Variant report

Variant	rs1479869
Chromosome Location	chr3:140007294-140007295
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1011758	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10513102	1.00[CHB][hapmap]
rs11915085	1.00[CHD][hapmap]
rs13061767	1.00[CHD][hapmap]
rs13066966	0.96[CEU][hapmap];0.92[YRI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1351313	0.81[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];0.89[MEX][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes]
rs1383021	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[ASN][1000 genomes]
rs1479868	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1479871	1.00[ASN][1000 genomes]
rs1531637	1.00[ASN][1000 genomes]
rs4327349	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4683485	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[TSI][hapmap];0.85[YRI][hapmap];0.87[EUR][1000 genomes]
rs4683816	0.83[ASW][hapmap];1.00[CHD][hapmap]
rs6784585	1.00[CHB][hapmap];0.86[GIH][hapmap];1.00[ASN][1000 genomes]
rs6792173	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[ASN][1000 genomes]
rs6802157	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[ASN][1000 genomes]
rs71314547	1.00[ASN][1000 genomes]
rs9289603	0.84[GIH][hapmap]
rs967861	0.85[CEU][hapmap];0.81[GIH][hapmap]
rs9811609	0.80[CEU][hapmap];0.82[EUR][1000 genomes]
rs9832534	0.82[GIH][hapmap]
rs9864847	1.00[CHB][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432486	chr3:139924092-140049121	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv2757891	chr3:139925764-140524730	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv2759181	chr3:139925764-140524730	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv829740	chr3:139925767-140106169	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv527831	chr3:139932966-140533823	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv963581	chr3:139998123-140007344	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv460867	chr3:140007294-140180563	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv591861	chr3:140007294-140180563	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:139995400-140007400	Weak transcription	HSMMtube	muscle
2	chr3:139999600-140015600	Weak transcription	Pancreas	Pancrea
3	chr3:140003600-140009400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:140003800-140007400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr3:140004400-140009200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:140004400-140015600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr3:140004600-140008800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr3:140004800-140008800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr3:140004800-140009200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr3:140004800-140015600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr3:140005000-140007800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr3:140006600-140010600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:140006800-140013400	Enhancers	HMEC	breast
14	chr3:140007000-140010600	Enhancers	NHEK	skin
15	chr3:140007000-140012400	Enhancers	NHDF-Ad	bronchial
16	chr3:140007200-140007600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr3:140007200-140008000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:140007200-140008000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr3:140007200-140008000	Enhancers	NH-A	brain
20	chr3:140007200-140008600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr3:140007200-140010000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr3:140007200-140010400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:140007200-140012400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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