Variant report

Variant	rs2061928
Chromosome Location	chr3:140011156-140011157
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:140004703..140007058-chr3:140009329..140011674,2	MCF-7	breast:
2	chr3:140009863..140011937-chr3:140014588..140017496,2	K562	blood:
3	chr3:140009863..140012696-chr3:140014385..140017496,3	K562	blood:
4	chr3:140010384..140011884-chr3:140017839..140020263,2	MCF-7	breast:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11917245	0.80[YRI][hapmap];0.81[ASN][1000 genomes]
rs11918688	1.00[EUR][1000 genomes]
rs11924457	0.82[ASW][hapmap];0.88[GIH][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11927090	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1383020	1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1479866	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs16850133	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2061927	1.00[CHB][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2061929	0.94[ASN][1000 genomes]
rs2086330	1.00[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34648747	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3903534	1.00[MEX][hapmap]
rs4076964	0.80[ASN][1000 genomes]
rs4077501	0.84[ASW][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap];1.00[TSI][hapmap]
rs4142786	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4234485	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4263252	0.84[ASW][hapmap];0.88[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4362682	1.00[CHB][hapmap]
rs4365587	1.00[EUR][1000 genomes]
rs4438621	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4518083	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs56834107	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57193140	1.00[EUR][1000 genomes]
rs57446026	0.87[ASN][1000 genomes]
rs57563861	1.00[EUR][1000 genomes]
rs57865055	1.00[EUR][1000 genomes]
rs58140595	1.00[EUR][1000 genomes]
rs59385932	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61015005	1.00[EUR][1000 genomes]
rs6414345	0.85[CHD][hapmap];1.00[GIH][hapmap]
rs6439912	1.00[CHB][hapmap]
rs6439913	0.81[ASN][1000 genomes]
rs6439914	1.00[CHB][hapmap];1.00[GIH][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6765022	0.85[CHD][hapmap];0.88[ASN][1000 genomes]
rs6765087	1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6773144	1.00[CHB][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6782976	1.00[CHB][hapmap]
rs72990191	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72990200	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73867103	1.00[EUR][1000 genomes]
rs73867105	1.00[EUR][1000 genomes]
rs73867110	1.00[EUR][1000 genomes]
rs73870712	1.00[EUR][1000 genomes]
rs73870714	1.00[EUR][1000 genomes]
rs73870715	1.00[EUR][1000 genomes]
rs7610342	1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs7626587	0.85[CHD][hapmap];0.80[ASN][1000 genomes]
rs7626588	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7638929	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs967861	0.88[ASN][1000 genomes]
rs9844835	0.80[ASN][1000 genomes]
rs995578	1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
7	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
8	esv34489	chr3:140009020-140469302	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	esv2757012	chr3:140009220-140460228	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:139999600-140015600	Weak transcription	Pancreas	Pancrea
2	chr3:140004400-140015600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:140004800-140015600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr3:140006800-140013400	Enhancers	HMEC	breast
5	chr3:140007000-140012400	Enhancers	NHDF-Ad	bronchial
6	chr3:140007200-140012400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr3:140009200-140011200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr3:140009400-140011200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:140009400-140015400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr3:140009800-140017800	Weak transcription	Right Atrium	heart
11	chr3:140010200-140011400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr3:140010200-140012200	Enhancers	NH-A	brain
13	chr3:140010200-140012400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr3:140010400-140011600	Enhancers	Osteobl	bone
15	chr3:140010400-140012200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:140010400-140012200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr3:140010400-140012200	Enhancers	HSMM	muscle
18	chr3:140010400-140013400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr3:140010600-140011200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr3:140010600-140011200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr3:140010600-140011200	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr3:140010600-140011200	Flanking Active TSS	NHEK	skin
23	chr3:140010600-140011600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:140010600-140012200	Enhancers	HSMMtube	muscle
25	chr3:140010600-140012400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr3:140010600-140014800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr3:140010800-140011200	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr3:140010800-140011400	Enhancers	NHLF	lung
29	chr3:140010800-140011800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr3:140011000-140011600	Enhancers	Adipose Nuclei	Adipose
31	chr3:140011000-140012000	Enhancers	Fetal Lung	lung
32	chr3:140011000-140012600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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