Variant report

Variant	rs12491351
Chromosome Location	chr3:21713210-21713211
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:21705075..21707006-chr3:21711502..21714008,3	K562	blood:
2	chr3:21705697..21707746-chr3:21710936..21713423,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1021351	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs1032314	0.82[GIH][hapmap];0.81[MEX][hapmap];0.81[TSI][hapmap]
rs11710743	0.86[CEU][hapmap];0.95[CHB][hapmap];0.81[CHD][hapmap];0.85[GIH][hapmap];0.85[JPT][hapmap]
rs1320292	0.93[MEX][hapmap];0.87[AMR][1000 genomes]
rs1490157	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2335812	0.86[CEU][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34604888	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3860585	0.81[AMR][1000 genomes]
rs3936575	0.93[MEX][hapmap];0.82[AMR][1000 genomes]
rs4241507	0.82[AMR][1000 genomes]
rs4298061	0.86[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];0.90[JPT][hapmap];0.86[MEX][hapmap];0.83[TSI][hapmap];0.84[ASN][1000 genomes]
rs6550616	0.83[AMR][1000 genomes]
rs6550619	0.84[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap]
rs7610303	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7630501	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9828403	0.86[CEU][hapmap];0.91[GIH][hapmap];0.81[MEX][hapmap];0.90[TSI][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9839129	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs986043	0.81[AMR][1000 genomes]
rs9864337	0.82[GIH][hapmap];0.86[MEX][hapmap];0.84[AMR][1000 genomes]
rs986503	0.86[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9881055	0.91[CEU][hapmap];0.85[GIH][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534005	chr3:21387588-22003293	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1010460	chr3:21516810-21839871	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv834631	chr3:21612283-21763887	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv1007048	chr3:21666807-21865229	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv536516	chr3:21666807-21865229	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21696600-21713400	Weak transcription	Fetal Heart	heart
2	chr3:21705200-21713800	Weak transcription	Psoas Muscle	Psoas
3	chr3:21707400-21713800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:21707400-21719600	Weak transcription	Fetal Lung	lung
5	chr3:21707800-21713800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:21707800-21719800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr3:21708000-21715600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr3:21708200-21719800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr3:21709800-21713600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr3:21709800-21713800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr3:21709800-21714400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr3:21710000-21713400	Weak transcription	HMEC	breast
13	chr3:21710000-21713800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr3:21710000-21713800	Weak transcription	Aorta	Aorta
15	chr3:21710000-21719600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr3:21710000-21724400	Weak transcription	Left Ventricle	heart
17	chr3:21711200-21719600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr3:21712200-21715200	Enhancers	HUVEC	blood vessel
19	chr3:21712400-21717400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:21712800-21715000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr3:21713200-21714000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr3:21713200-21714200	Enhancers	NHDF-Ad	bronchial
23	chr3:21713200-21714600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr3:21713200-21714600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr3:21713200-21714600	Enhancers	HSMM	muscle
26	chr3:21713200-21715400	Enhancers	NH-A	brain
27	chr3:21713200-21715400	Enhancers	NHLF	lung
28	chr3:21713200-21715600	Enhancers	Muscle Satellite Cultured Cells	--

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