Variant report

Variant	rs7306549
Chromosome Location	chr12:124156897-124156898
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:124155376..124157580-chr12:124194948..124197481,2	K562	blood:
2	chr12:124155020..124157089-chr12:124215035..124217819,2	MCF-7	breast:
3	chr12:124155436..124158746-chr12:124195101..124198299,4	MCF-7	breast:
4	chr12:124131124..124134135-chr12:124154416..124157411,3	K562	blood:
5	chr12:124116825..124119400-chr12:124154444..124157055,3	MCF-7	breast:
6	chr12:124143980..124146532-chr12:124155769..124157495,2	MCF-7	breast:
7	chr12:124150219..124152252-chr12:124155815..124157987,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000111361	Chromatin interaction
ENSG00000185344	Chromatin interaction
ENSG00000111358	Chromatin interaction

Extended variants
information (count: 217 )
Associated
traits (count: 17 )

rSNPs within LD-proxies of this variant (count:190)

rs_ID	r²[population]
rs10160842	0.84[ASN][1000 genomes]
rs10160937	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1040156	0.84[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap]
rs1051793	0.92[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1060637	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10732574	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10734905	1.00[CHB][hapmap]
rs10734906	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap]
rs10734908	0.84[ASN][1000 genomes]
rs10744158	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10744160	0.85[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.84[ASN][1000 genomes]
rs10744161	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10744162	0.85[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs10773032	0.84[ASN][1000 genomes]
rs10773034	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10846535	0.92[CEU][hapmap];0.90[MEX][hapmap]
rs10846537	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10846540	0.82[EUR][1000 genomes]
rs10846549	0.81[ASN][1000 genomes]
rs10846553	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1139320	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11572920	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11572952	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11609591	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11611354	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11611450	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11612030	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11612479	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11612927	0.96[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11613632	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11614155	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11614468	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11614659	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11615162	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11615300	0.84[EUR][1000 genomes]
rs11829958	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11830462	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11831536	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11833604	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11834141	0.89[EUR][1000 genomes]
rs11834492	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11834808	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11837144	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap]
rs12580486	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12811354	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12813346	0.81[EUR][1000 genomes]
rs12813758	0.90[EUR][1000 genomes]
rs12817576	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12817757	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12818596	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12819746	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12820195	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12821219	0.83[EUR][1000 genomes]
rs12821242	0.96[CEU][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12822546	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12823866	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12824075	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12825800	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12827074	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12828408	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12828633	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12829893	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.86[TSI][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12829984	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12830927	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12831081	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1399961	1.00[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap]
rs1515815	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1878077	0.81[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap]
rs1962020	0.87[EUR][1000 genomes]
rs2176152	0.81[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap]
rs2203500	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2222060	0.92[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2222061	0.83[EUR][1000 genomes]
rs2250026	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs2271660	0.85[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap]
rs2271662	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2333834	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2333837	0.81[ASN][1000 genomes]
rs2333838	0.85[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap]
rs2333840	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs34247974	0.84[ASN][1000 genomes]
rs34534928	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34996665	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35114195	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35158437	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35416308	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35649708	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35804181	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35900897	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35911711	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35946281	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3748269	0.89[CEU][hapmap];0.84[MEX][hapmap]
rs3817309	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4456350	0.89[CEU][hapmap]
rs4930708	0.84[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488888	0.92[CEU][hapmap];0.85[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.81[TSI][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6488891	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6488892	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6488893	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6488894	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6488897	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488899	0.84[ASN][1000 genomes]
rs66471742	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66647364	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66690784	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67178535	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67516712	0.92[EUR][1000 genomes]
rs7132115	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap]
rs7133199	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7133543	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7133734	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7134074	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7135267	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7135542	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7135660	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7136939	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.86[TSI][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7137946	0.96[CEU][hapmap];0.90[MEX][hapmap];0.81[TSI][hapmap];0.84[EUR][1000 genomes]
rs7138503	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7139193	0.96[CEU][hapmap];0.90[MEX][hapmap];0.81[TSI][hapmap];0.84[EUR][1000 genomes]
rs71458814	0.89[EUR][1000 genomes]
rs7294984	0.92[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7295552	0.81[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs7296804	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7297576	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7298440	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7298831	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7301065	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7301641	0.81[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap]
rs7301907	0.84[EUR][1000 genomes]
rs7302183	0.87[CEU][hapmap]
rs7302449	0.84[EUR][1000 genomes]
rs7302649	0.96[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7302708	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7302788	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7304052	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7304837	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7305701	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7305838	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7307008	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7307343	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7308234	0.95[CEU][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7308398	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7308862	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7309528	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7310918	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7313032	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7313140	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7313261	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7313628	0.85[CEU][hapmap]
rs73219037	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7397160	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7397230	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7397745	0.81[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.84[ASN][1000 genomes]
rs7397930	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7398082	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7398152	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7398298	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7398384	0.81[ASN][1000 genomes]
rs7398606	0.84[ASN][1000 genomes]
rs7398641	0.84[ASN][1000 genomes]
rs7398851	0.84[ASN][1000 genomes]
rs7399128	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7399224	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs786444	0.89[CEU][hapmap];0.84[MEX][hapmap]
rs786448	0.89[CEU][hapmap];0.84[MEX][hapmap]
rs7953596	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7953599	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.88[TSI][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7957429	0.93[ASN][1000 genomes]
rs7958693	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7959553	0.96[CEU][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7960017	0.87[ASN][1000 genomes]
rs7960951	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7963498	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7963968	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7964443	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7966867	0.96[CEU][hapmap];0.85[MEX][hapmap];0.83[EUR][1000 genomes]
rs7968029	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7969130	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7969234	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7969964	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7973155	0.96[CEU][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7973695	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7974279	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975119	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7975233	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7978447	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7979528	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs882563	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.84[ASN][1000 genomes]
rs908373	0.81[CEU][hapmap]
rs9788204	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050598	chr12:123991646-124214332	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv541623	chr12:123991646-124214332	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1040356	chr12:124094758-124172731	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	diseases
5	esv2757517	chr12:124110122-124195856	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
6	esv2759918	chr12:124110122-124195856	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	nsv1041918	chr12:124115035-124184855	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
8	nsv1042866	chr12:124115035-124195856	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
9	nsv442292	chr12:124115047-124195854	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	esv35148	chr12:124119120-124196120	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	esv2756516	chr12:124119120-124196120	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
12	nsv1053101	chr12:124119155-124172731	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
13	nsv524660	chr12:124119983-124194438	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv455733	chr12:124119983-124195856	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
15	nsv560496	chr12:124119983-124195856	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
16	nsv1036843	chr12:124122376-124169697	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
17	nsv1052065	chr12:124127003-124157939	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
18	nsv1051385	chr12:124127003-124160021	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
19	nsv1053923	chr12:124127003-124162750	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
20	nsv1037556	chr12:124127003-124166978	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
21	nsv1043738	chr12:124127003-124169697	Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
22	nsv1046151	chr12:124127003-124172731	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
23	nsv1045476	chr12:124127003-124174020	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
24	nsv1055052	chr12:124127003-124176120	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
25	nsv1044734	chr12:124127003-124179417	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
26	nsv560497	chr12:124129460-124195856	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
27	nsv560498	chr12:124129924-124195856	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:17)

SNP	Gene	Cis/trans	Tissue	Source
rs7306549	TCTN2	cis	Muscle Skeletal	GTEx
rs7306549	TCTN2	cis	Thyroid	GTEx
rs7306549	TCTN2	cis	Nerve Tibial	GTEx
rs7306549	TCTN2	cis	lung	GTEx
rs7306549	DDX55	cis	cerebellum	SCAN
rs7306549	DDX55	cis	parietal	SCAN
rs7306549	TCTN2	cis	Artery Tibial	GTEx
rs7306549	TCTN2	cis	Stomach	GTEx
rs7306549	TCTN2	cis	Esophagus Muscularis	GTEx
rs7306549	SETD1B	cis	parietal	SCAN
rs7306549	TCTN2	cis	parietal	SCAN
rs7306549	CABP1	cis	cerebellum	SCAN
rs7306549	TCTN2	cis	cerebellum	SCAN
rs7306549	TCTN2	cis	Skin Sun Exposed Lower leg	GTEx
rs7306549	ATP6V0A2	cis	Nerve Tibial	GTEx
rs7306549	ATP6V0A2	cis	parietal	SCAN
rs7306549	TCTN2	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124156000-124157000	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr12:124156200-124157000	Enhancers	Primary T killer memory cells from peripheral blood	blood
3	chr12:124156200-124157000	Flanking Active TSS	Brain Germinal Matrix	brain
4	chr12:124156200-124157000	Enhancers	Spleen	Spleen
5	chr12:124156200-124169000	Weak transcription	Primary B cells from cord blood	blood
6	chr12:124156200-124182000	Weak transcription	Small Intestine	intestine
7	chr12:124156400-124157000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:124156400-124157000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:124156400-124157000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:124156400-124157000	Enhancers	Fetal Heart	heart
11	chr12:124156400-124157000	Enhancers	Gastric	stomach
12	chr12:124156400-124158200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:124156400-124158200	Weak transcription	Left Ventricle	heart
14	chr12:124156400-124158400	Weak transcription	Aorta	Aorta
15	chr12:124156400-124159200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr12:124156400-124159200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:124156400-124159400	Weak transcription	Right Ventricle	heart
18	chr12:124156400-124159600	Weak transcription	Placenta	Placenta
19	chr12:124156400-124161400	Weak transcription	Psoas Muscle	Psoas
20	chr12:124156400-124196000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr12:124156400-124196000	Weak transcription	Thymus	Thymus
22	chr12:124156600-124157000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr12:124156600-124157000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr12:124156600-124157000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr12:124156600-124157000	Genic enhancers	Fetal Stomach	stomach
26	chr12:124156600-124157000	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr12:124156600-124158400	Enhancers	Fetal Brain Male	brain
28	chr12:124156600-124158400	Weak transcription	Fetal Intestine Small	intestine
29	chr12:124156600-124159000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:124156600-124159200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr12:124156600-124159200	Weak transcription	Primary T cells from cord blood	blood
32	chr12:124156600-124159400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr12:124156600-124159400	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr12:124156600-124159400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr12:124156600-124163600	Weak transcription	Fetal Thymus	thymus
36	chr12:124156600-124165400	Weak transcription	GM12878-XiMat	blood
37	chr12:124156600-124165600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr12:124156600-124165600	Weak transcription	HSMMtube	muscle
39	chr12:124156600-124165800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr12:124156600-124173000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr12:124156600-124175800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:124156600-124176000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr12:124156600-124180600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr12:124156600-124189800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr12:124156600-124195600	Weak transcription	Esophagus	oesophagus
46	chr12:124156600-124195800	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr12:124156600-124195800	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr12:124156600-124196000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr12:124156600-124196000	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr12:124156600-124196000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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