Variant report

Variant	rs11834808
Chromosome Location	chr12:124190582-124190583
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:124185897..124191093-chr12:124195290..124198994,7	MCF-7	breast:
2	chr12:124188235..124191139-chr12:124193941..124195953,3	MCF-7	breast:
3	chr12:124189784..124191716-chr12:124194882..124197193,2	K562	blood:
4	chr12:124157024..124160371-chr12:124188986..124191737,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185344	Chromatin interaction

Extended variants
information (count: 187 )
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	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1060637	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1060639	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10732574	0.83[ASN][1000 genomes]
rs10734903	0.80[EUR][1000 genomes];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	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10846549	0.86[ASN][1000 genomes]
rs10846550	0.81[ASN][1000 genomes]
rs1139320	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1139789	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11572920	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11572952	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11609591	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11610473	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11611354	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11611450	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11612030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11612479	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11612927	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11613632	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614155	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614468	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614659	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11615162	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11829958	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11830462	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11831536	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11833604	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11834141	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11834492	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11837144	0.83[ASN][1000 genomes]
rs12580486	0.83[ASN][1000 genomes]
rs12811354	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12813758	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12817576	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12817757	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12818596	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12819746	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12820195	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12821242	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12822546	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12823866	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12824075	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12825800	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12827074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12828408	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12828633	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12829893	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12829984	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12830927	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12831081	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1399961	0.83[ASN][1000 genomes]
rs1515815	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1878077	0.83[ASN][1000 genomes]
rs1962020	0.92[EUR][1000 genomes]
rs2176152	0.83[ASN][1000 genomes]
rs2203500	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2222060	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2250026	0.82[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	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34996665	0.86[ASN][1000 genomes]
rs35114195	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35158437	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35416308	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35649708	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35804181	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35900897	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35911711	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35946281	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36018806	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3817309	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4930708	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6488888	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6488891	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488892	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488893	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488894	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488897	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66471742	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66647364	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66690784	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67178535	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67516712	0.86[EUR][1000 genomes]
rs7132115	0.83[ASN][1000 genomes]
rs7133199	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7133543	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7133734	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7134074	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7135267	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7135660	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7136939	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7138503	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71458814	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7294984	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7295552	0.83[ASN][1000 genomes]
rs7296804	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7297576	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7298440	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7298831	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7300721	0.83[ASN][1000 genomes]
rs7301065	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7301641	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7302649	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302788	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7304052	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7304837	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7305701	0.93[ASN][1000 genomes]
rs7305838	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7306549	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7307008	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307343	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7308234	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7308398	0.83[ASN][1000 genomes]
rs7308862	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7309528	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7310918	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311789	0.83[ASN][1000 genomes]
rs7313032	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7313140	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7313261	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73219037	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7397160	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7397230	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7397930	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7398082	0.83[ASN][1000 genomes]
rs7398152	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7398298	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7399128	0.83[ASN][1000 genomes]
rs7399224	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7953596	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7953599	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7956751	0.83[ASN][1000 genomes]
rs7957429	1.00[ASN][1000 genomes]
rs7958693	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7959553	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7960017	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7960403	0.83[ASN][1000 genomes]
rs7960951	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7963498	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7963968	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964443	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7968029	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7969130	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7969234	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7969964	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973155	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973695	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7974279	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7974331	0.83[ASN][1000 genomes]
rs7975119	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975233	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7978447	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7979528	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs968203	0.83[ASN][1000 genomes]
rs9787987	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	nsv519344	chr12:124171903-124194438	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs11834808	TCTN2	cis	Thyroid	GTEx
rs11834808	TCTN2	cis	Skin Sun Exposed Lower leg	GTEx
rs11834808	ATP6V0A2	cis	Adipose Subcutaneous	GTEx
rs11834808	ATP6V0A2	cis	Nerve Tibial	GTEx
rs11834808	TCTN2	cis	Esophagus Muscularis	GTEx
rs11834808	TCTN2	cis	Adipose Subcutaneous	GTEx
rs11834808	TCTN2	cis	Artery Tibial	GTEx
rs11834808	TCTN2	cis	lung	GTEx
rs11834808	TCTN2	cis	Muscle Skeletal	GTEx
rs11834808	TCTN2	cis	Nerve Tibial	GTEx

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124156400-124196000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr12:124156400-124196000	Weak transcription	Thymus	Thymus
3	chr12:124156600-124195600	Weak transcription	Esophagus	oesophagus
4	chr12:124156600-124195800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr12:124156600-124195800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr12:124156600-124196000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:124156600-124196000	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr12:124156600-124196000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr12:124156600-124196000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr12:124156800-124196000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:124156800-124196000	Weak transcription	HUVEC	blood vessel
12	chr12:124156800-124196200	Weak transcription	HSMM	muscle
13	chr12:124157000-124193000	Strong transcription	Fetal Stomach	stomach
14	chr12:124157000-124196000	Weak transcription	Fetal Heart	heart
15	chr12:124157000-124196000	Weak transcription	NH-A	brain
16	chr12:124158400-124193800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr12:124160000-124195600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr12:124160200-124191000	Weak transcription	Colonic Mucosa	Colon
19	chr12:124160200-124195800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:124160200-124196000	Weak transcription	Right Ventricle	heart
21	chr12:124161600-124196000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr12:124161800-124195800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr12:124164200-124195800	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr12:124164200-124196000	Weak transcription	Fetal Thymus	thymus
25	chr12:124166200-124195800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr12:124166800-124196000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr12:124170600-124192800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:124170800-124193200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:124173400-124196000	Weak transcription	GM12878-XiMat	blood
30	chr12:124174800-124192800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:124176000-124195800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr12:124176200-124195800	Weak transcription	HMEC	breast
33	chr12:124176200-124196200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr12:124176200-124196400	Weak transcription	Gastric	stomach
35	chr12:124177600-124191000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr12:124177600-124195800	Weak transcription	Hela-S3	cervix
37	chr12:124180400-124192800	Strong transcription	Ovary	ovary
38	chr12:124180800-124192400	Strong transcription	Fetal Muscle Trunk	muscle
39	chr12:124181200-124192800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:124181200-124195800	Weak transcription	Stomach Mucosa	stomach
41	chr12:124181600-124196000	Weak transcription	Primary T cells from cord blood	blood
42	chr12:124181800-124192000	Strong transcription	Fetal Intestine Small	intestine
43	chr12:124181800-124195800	Weak transcription	Primary B cells from peripheral blood	blood
44	chr12:124182000-124196000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:124182400-124190800	Weak transcription	NHDF-Ad	bronchial
46	chr12:124182400-124195600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr12:124183000-124192800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr12:124183000-124192800	Strong transcription	Brain Anterior Caudate	brain
49	chr12:124183000-124193000	Strong transcription	Brain Germinal Matrix	brain
50	chr12:124183600-124192000	Weak transcription	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links