Variant report

Variant	rs12491854
Chromosome Location	chr3:195169284-195169285
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:195164614..195167502-chr3:195169044..195171295,4	K562	blood:
2	chr3:195164614..195167496-chr3:195169106..195172382,4	K562	blood:
3	chr3:195162020..195165766-chr3:195166533..195172631,9	MCF-7	breast:
4	chr3:195167880..195169802-chr3:195171668..195174752,4	K562	blood:
5	chr3:195167466..195170078-chr3:195181038..195183808,2	MCF-7	breast:
6	chr3:195167880..195169802-chr3:195172457..195174752,3	K562	blood:

Variant related genes	Relation type
ENSG00000114331	Chromatin interaction

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs11919965	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs12485302	0.90[AMR][1000 genomes]
rs12485380	0.86[AMR][1000 genomes]
rs12485407	0.86[AMR][1000 genomes]
rs12485433	0.90[AMR][1000 genomes]
rs12485787	0.86[AMR][1000 genomes]
rs12486168	1.00[CHB][hapmap]
rs12486220	1.00[CHB][hapmap]
rs12486241	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12486536	0.86[AMR][1000 genomes]
rs12486805	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes]
rs12486835	1.00[CHB][hapmap]
rs12487670	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes]
rs12487961	0.86[AMR][1000 genomes]
rs12488451	0.93[AMR][1000 genomes]
rs12488481	0.93[AMR][1000 genomes]
rs12488562	0.90[AMR][1000 genomes]
rs12488869	0.86[AMR][1000 genomes]
rs12488979	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.93[AMR][1000 genomes]
rs12489090	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes]
rs12489620	0.86[AMR][1000 genomes]
rs12489849	0.93[AMR][1000 genomes]
rs12490460	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12490658	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes]
rs12491026	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes]
rs12491371	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes]
rs12491581	0.90[AMR][1000 genomes]
rs12491670	0.93[AMR][1000 genomes]
rs12491736	0.93[AMR][1000 genomes]
rs12491788	0.86[AMR][1000 genomes]
rs12491808	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12492552	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes]
rs12494564	1.00[CEU][hapmap];0.86[AMR][1000 genomes]
rs12494759	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes]
rs12494773	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes]
rs12494820	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes]
rs12494883	0.86[AMR][1000 genomes]
rs12495657	0.93[AMR][1000 genomes]
rs12496202	0.90[AMR][1000 genomes]
rs12496204	0.93[AMR][1000 genomes]
rs12496885	0.86[AMR][1000 genomes]
rs12497178	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12497478	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes]
rs12497671	0.86[AMR][1000 genomes]
rs12497677	0.86[AMR][1000 genomes]
rs1808074	0.90[AMR][1000 genomes]
rs2029707	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2050807	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes]
rs2050808	0.93[AMR][1000 genomes]
rs34643420	0.93[AMR][1000 genomes]
rs35419807	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3773419	0.90[AMR][1000 genomes]
rs3773420	0.90[AMR][1000 genomes]
rs41266981	0.86[AMR][1000 genomes]
rs41266999	0.93[AMR][1000 genomes]
rs41267003	0.93[AMR][1000 genomes]
rs56211708	0.90[AMR][1000 genomes]
rs60040536	0.90[AMR][1000 genomes]
rs6767801	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes]
rs6798243	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes]
rs72499627	0.86[AMR][1000 genomes]
rs72607893	0.84[AMR][1000 genomes]
rs72607894	0.90[AMR][1000 genomes]
rs72607895	0.90[AMR][1000 genomes]
rs72607896	0.90[AMR][1000 genomes]
rs72607897	0.90[AMR][1000 genomes]
rs72607898	0.90[AMR][1000 genomes]
rs72607899	0.90[AMR][1000 genomes]
rs72607900	0.90[AMR][1000 genomes]
rs72607901	0.90[AMR][1000 genomes]
rs72607902	0.90[AMR][1000 genomes]
rs72611103	0.90[AMR][1000 genomes]
rs73890832	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73890833	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs755202	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes]
rs7653179	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs999331	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014826	chr3:194834615-195631793	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription 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 lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
2	nsv536876	chr3:194834615-195631793	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
3	nsv533904	chr3:194868329-195438728	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
4	esv1832781	chr3:194902818-195528226	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
5	nsv432508	chr3:194916131-195478861	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	59 gene(s)	inside rSNPs	diseases
6	nsv432510	chr3:194935314-195478861	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	59 gene(s)	inside rSNPs	diseases
7	nsv1005519	chr3:194964301-195340515	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
8	nsv432511	chr3:194986167-195479748	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
9	nsv432512	chr3:195007260-195475989	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases
10	nsv878138	chr3:195057001-195477791	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
11	nsv1006229	chr3:195071421-195474751	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
12	esv2754364	chr3:195102703-195553690	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases
13	esv2757028	chr3:195102787-195479748	Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
14	esv2759213	chr3:195102787-196071593	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
15	nsv432513	chr3:195121072-195478861	Strong transcription Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking 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 miRNA	52 gene(s)	inside rSNPs	diseases
16	nsv432514	chr3:195121110-195478861	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
17	nsv432515	chr3:195121110-195528226	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases
18	nsv829824	chr3:195131067-195286698	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
19	nsv10379	chr3:195166939-195170590	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195164600-195170800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr3:195164600-195171000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr3:195164600-195171200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:195166600-195172600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr3:195167200-195171600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr3:195167400-195170400	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr3:195167400-195171000	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr3:195167400-195171800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:195167400-195171800	Weak transcription	Primary B cells from cord blood	blood
10	chr3:195167400-195172200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr3:195167600-195170800	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr3:195168000-195171200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr3:195168000-195171800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr3:195169000-195169400	Enhancers	K562	blood

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