Variant report

Variant	rs1001518
Chromosome Location	chr3:140010660-140010661
allele	A/G
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: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11927781	1.00[YRI][hapmap]
rs16850127	0.84[LWK][hapmap];1.00[YRI][hapmap]
rs16850130	0.84[LWK][hapmap];1.00[YRI][hapmap]
rs1871496	0.82[YRI][hapmap]
rs6790576	1.00[YRI][hapmap]
rs7649047	1.00[YRI][hapmap]
rs9863506	0.84[LWK][hapmap];1.00[YRI][hapmap]

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:31 , 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	chr3:140007800-140010800	Weak transcription	NHLF	lung
8	chr3:140008000-140010800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr3:140008600-140010800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr3:140009200-140011200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr3:140009400-140011200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr3:140009400-140015400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr3:140009800-140010800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr3:140009800-140017800	Weak transcription	Right Atrium	heart
15	chr3:140010200-140011400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr3:140010200-140012200	Enhancers	NH-A	brain
17	chr3:140010200-140012400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr3:140010400-140011000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr3:140010400-140011600	Enhancers	Osteobl	bone
20	chr3:140010400-140012200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr3:140010400-140012200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr3:140010400-140012200	Enhancers	HSMM	muscle
23	chr3:140010400-140013400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr3:140010600-140011200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr3:140010600-140011200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr3:140010600-140011200	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr3:140010600-140011200	Flanking Active TSS	NHEK	skin
28	chr3:140010600-140011600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr3:140010600-140012200	Enhancers	HSMMtube	muscle
30	chr3:140010600-140012400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr3:140010600-140014800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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