Variant report

Variant	rs6721757
Chromosome Location	chr2:151346231-151346232
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT1	chr2:151346163-151346859	Hela-S3	cervix:	n/a	chr2:151346483-151346492 chr2:151346481-151346495 chr2:151346484-151346493

Variant related genes	Relation type
RND3	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10497060	0.81[ASN][1000 genomes]
rs10803791	0.96[ASN][1000 genomes]
rs10930130	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11686078	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12692718	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12692720	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12692722	0.86[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12692729	0.84[ASN][1000 genomes]
rs12692739	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12692740	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12692747	0.89[ASN][1000 genomes]
rs12692748	0.96[CEU][hapmap];0.93[JPT][hapmap]
rs13011082	0.82[ASN][1000 genomes]
rs13011088	0.95[ASN][1000 genomes]
rs13012155	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs13031372	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1569158	0.96[ASN][1000 genomes]
rs1609302	0.96[CEU][hapmap];0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1852688	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1852689	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1852690	0.82[ASN][1000 genomes]
rs1919142	0.93[ASN][1000 genomes]
rs2222760	0.89[CHD][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs6432778	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.86[MKK][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6432779	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.82[MKK][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6432791	0.93[ASN][1000 genomes]
rs6722263	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6735265	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6757626	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72865991	0.81[ASN][1000 genomes]
rs7561737	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7586782	0.95[ASN][1000 genomes]
rs7600506	0.95[ASN][1000 genomes]
rs7603369	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7603608	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7605020	0.93[ASN][1000 genomes]
rs7609510	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001838	chr2:150819672-151745876	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv535980	chr2:150819672-151745876	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv532473	chr2:151164210-151701860	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv834414	chr2:151209374-151413309	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151344000-151348000	Weak transcription	Fetal Heart	heart
2	chr2:151344000-151352000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:151344200-151347600	Weak transcription	Osteobl	bone
4	chr2:151344200-151347800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:151344200-151347800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr2:151344200-151347800	Weak transcription	HUVEC	blood vessel
7	chr2:151344200-151348000	Weak transcription	Hela-S3	cervix
8	chr2:151344200-151348200	Weak transcription	NH-A	brain
9	chr2:151344200-151348400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:151344200-151348600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:151344200-151348600	Weak transcription	Liver	Liver
12	chr2:151344200-151351200	Weak transcription	NHEK	skin
13	chr2:151344200-151351800	Weak transcription	HMEC	breast
14	chr2:151344200-151352600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:151344400-151347600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:151344400-151352000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:151344600-151349400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:151344600-151352000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:151344800-151347800	Enhancers	NHDF-Ad	bronchial
20	chr2:151345200-151347000	Enhancers	NHLF	lung
21	chr2:151345600-151347800	Weak transcription	A549	lung
22	chr2:151345600-151349600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:151345800-151346800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:151345800-151351200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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