Variant report

Variant	rs7963498
Chromosome Location	chr12:124158502-124158503
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:124157626..124159857-chr12:124196461..124198464,2	MCF-7	breast:
2	chr12:124157962..124160129-chr12:124161284..124163771,2	MCF-7	breast:
3	chr12:124155436..124158746-chr12:124195101..124198299,4	MCF-7	breast:
4	chr12:124157620..124159905-chr12:124196914..124199226,2	K562	blood:
5	chr12:124157024..124160371-chr12:124188986..124191737,3	MCF-7	breast:
6	chr12:124127308..124129753-chr12:124158031..124160799,2	K562	blood:

Variant related genes	Relation type
ENSG00000185344	Chromatin interaction

Extended variants
information (count: 198 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:171)

rs_ID	r²[population]
rs10160937	0.83[ASN][1000 genomes]
rs1040156	0.83[ASN][1000 genomes]
rs1051793	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1060637	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1060639	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10732574	0.83[ASN][1000 genomes]
rs10734903	0.83[ASN][1000 genomes]
rs10734905	0.83[ASN][1000 genomes]
rs10734906	0.83[ASN][1000 genomes]
rs10744157	0.83[ASN][1000 genomes]
rs10744158	0.83[ASN][1000 genomes]
rs10744159	0.83[ASN][1000 genomes]
rs10773026	0.83[ASN][1000 genomes]
rs10773030	0.83[ASN][1000 genomes]
rs10846537	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10846549	0.86[ASN][1000 genomes]
rs10846550	0.81[ASN][1000 genomes]
rs1139320	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1139789	0.83[ASN][1000 genomes]
rs11572920	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11572952	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11609591	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11610473	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11611354	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11611450	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11612030	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11612479	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11612927	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11613632	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614155	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614468	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614659	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11615162	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11829958	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11830462	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11831536	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11833604	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11834141	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11834492	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11834808	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11837144	0.83[ASN][1000 genomes]
rs12580486	0.83[ASN][1000 genomes]
rs12811354	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12813758	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12817576	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12817757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12818596	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12819746	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12820195	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12821242	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12822546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12823866	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12824075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12825800	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12827074	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12828408	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12828633	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12829893	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12829984	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12830927	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12831081	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1399961	0.83[ASN][1000 genomes]
rs1515815	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1878077	0.83[ASN][1000 genomes]
rs1962020	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2176152	0.83[ASN][1000 genomes]
rs2203500	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2222060	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2250026	0.81[EUR][1000 genomes]
rs2271660	0.83[ASN][1000 genomes]
rs2271661	0.83[ASN][1000 genomes]
rs2271662	0.83[ASN][1000 genomes]
rs2333836	0.83[ASN][1000 genomes]
rs2333838	0.83[ASN][1000 genomes]
rs2333839	0.83[ASN][1000 genomes]
rs2333840	0.83[ASN][1000 genomes]
rs34534928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34996665	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35114195	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35158437	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35416308	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35649708	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35804181	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35900897	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35911711	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35946281	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36018806	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3817309	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4930708	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6488888	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6488891	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488892	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488893	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488894	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488897	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66471742	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66647364	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66690784	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67178535	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67516712	0.85[EUR][1000 genomes]
rs7132115	0.83[ASN][1000 genomes]
rs7133199	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7133543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7133734	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7134074	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7135267	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7135660	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7136939	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7138503	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71458814	0.94[EUR][1000 genomes]
rs7294984	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7295552	0.83[ASN][1000 genomes]
rs7296804	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7297576	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7298440	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7298831	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7300721	0.83[ASN][1000 genomes]
rs7301065	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7301641	0.83[ASN][1000 genomes]
rs7302649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302788	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7304052	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7304837	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7305701	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7305838	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7306549	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7307008	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307343	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7308234	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7308398	0.83[ASN][1000 genomes]
rs7308862	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7309528	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7310918	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311789	0.83[ASN][1000 genomes]
rs7313032	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7313140	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7313261	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73219037	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7397160	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7397230	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7397930	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7398082	0.83[ASN][1000 genomes]
rs7398152	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7398298	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7399128	0.83[ASN][1000 genomes]
rs7399224	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7953596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7953599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7956751	0.83[ASN][1000 genomes]
rs7957429	1.00[ASN][1000 genomes]
rs7958693	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7959553	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7960017	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7960403	0.83[ASN][1000 genomes]
rs7960951	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7963968	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964443	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7968029	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7969130	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7969234	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7969964	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973155	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973695	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7974279	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7974331	0.83[ASN][1000 genomes]
rs7975119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7978447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7979528	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs968203	0.83[ASN][1000 genomes]
rs9787987	0.83[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	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	nsv832534	chr12:124157605-124234611	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs7963498	TCTN2	cis	Skin Sun Exposed Lower leg	GTEx
rs7963498	TCTN2	cis	Nerve Tibial	GTEx
rs7963498	TCTN2	cis	Esophagus Muscularis	GTEx
rs7963498	ATP6V0A2	cis	Adipose Subcutaneous	GTEx
rs7963498	TCTN2	cis	lung	GTEx
rs7963498	TCTN2	cis	Thyroid	GTEx
rs7963498	ATP6V0A2	cis	Nerve Tibial	GTEx
rs7963498	TCTN2	cis	Artery Tibial	GTEx
rs7963498	TCTN2	cis	Adipose Subcutaneous	GTEx
rs7963498	TCTN2	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124156200-124169000	Weak transcription	Primary B cells from cord blood	blood
2	chr12:124156200-124182000	Weak transcription	Small Intestine	intestine
3	chr12:124156400-124159200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:124156400-124159200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:124156400-124159400	Weak transcription	Right Ventricle	heart
6	chr12:124156400-124159600	Weak transcription	Placenta	Placenta
7	chr12:124156400-124161400	Weak transcription	Psoas Muscle	Psoas
8	chr12:124156400-124196000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:124156400-124196000	Weak transcription	Thymus	Thymus
10	chr12:124156600-124159000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:124156600-124159200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr12:124156600-124159200	Weak transcription	Primary T cells from cord blood	blood
13	chr12:124156600-124159400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr12:124156600-124159400	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr12:124156600-124159400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr12:124156600-124163600	Weak transcription	Fetal Thymus	thymus
17	chr12:124156600-124165400	Weak transcription	GM12878-XiMat	blood
18	chr12:124156600-124165600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr12:124156600-124165600	Weak transcription	HSMMtube	muscle
20	chr12:124156600-124165800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr12:124156600-124173000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr12:124156600-124175800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:124156600-124176000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr12:124156600-124180600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr12:124156600-124189800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr12:124156600-124195600	Weak transcription	Esophagus	oesophagus
27	chr12:124156600-124195800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr12:124156600-124195800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr12:124156600-124196000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr12:124156600-124196000	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr12:124156600-124196000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr12:124156600-124196000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr12:124156800-124158800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:124156800-124158800	Weak transcription	Fetal Intestine Large	intestine
35	chr12:124156800-124159200	Weak transcription	NHDF-Ad	bronchial
36	chr12:124156800-124159400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr12:124156800-124159400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr12:124156800-124159400	Weak transcription	Brain Substantia Nigra	brain
39	chr12:124156800-124159400	Weak transcription	Colonic Mucosa	Colon
40	chr12:124156800-124159400	Weak transcription	Pancreas	Pancrea
41	chr12:124156800-124159400	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr12:124156800-124159400	Weak transcription	Rectal Smooth Muscle	rectum
43	chr12:124156800-124159600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:124156800-124159600	Weak transcription	Brain Hippocampus Middle	brain
45	chr12:124156800-124159600	Weak transcription	Duodenum Mucosa	Duodenum
46	chr12:124156800-124165000	Weak transcription	Right Atrium	heart
47	chr12:124156800-124165800	Weak transcription	NHEK	skin
48	chr12:124156800-124166000	Weak transcription	A549	lung
49	chr12:124156800-124168400	Weak transcription	NHLF	lung
50	chr12:124156800-124170800	Weak transcription	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links