Variant report

Variant	rs72962660
Chromosome Location	chr3:120502646-120502647
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	chr3:120495942..120499120-chr3:120500885..120503419,3	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs57378115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72962654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72962662	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv869548	chr3:120320731-121076337	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv916869	chr3:120360281-120973169	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv877378	chr3:120381530-120606438	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1005396	chr3:120460741-120580319	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv829700	chr3:120469191-120675763	Strong transcription Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1012541	chr3:120482402-120580319	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv1014477	chr3:120482402-120583166	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120462800-120503000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:120463000-120504200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:120463000-120504800	Weak transcription	Fetal Brain Male	brain
4	chr3:120463400-120503000	Weak transcription	Small Intestine	intestine
5	chr3:120482200-120505200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr3:120482200-120517600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr3:120483200-120509800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr3:120483400-120521200	Weak transcription	Fetal Heart	heart
9	chr3:120486000-120505000	Weak transcription	Colon Smooth Muscle	Colon
10	chr3:120487600-120503000	Weak transcription	Right Ventricle	heart
11	chr3:120488600-120503200	Weak transcription	Psoas Muscle	Psoas
12	chr3:120491600-120511000	Weak transcription	HMEC	breast
13	chr3:120492400-120510600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr3:120493400-120503400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr3:120494400-120511000	Weak transcription	K562	blood
16	chr3:120495200-120503400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:120495400-120510200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr3:120495600-120504600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr3:120496200-120510200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr3:120496600-120506200	Weak transcription	Fetal Brain Female	brain
21	chr3:120498800-120502800	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr3:120499200-120515400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr3:120499600-120511000	Weak transcription	Hela-S3	cervix
24	chr3:120500200-120504400	Weak transcription	Gastric	stomach
25	chr3:120500200-120509200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr3:120500200-120511000	Weak transcription	NHLF	lung
27	chr3:120500400-120504600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr3:120500400-120504600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr3:120500400-120504600	Weak transcription	Aorta	Aorta
30	chr3:120500400-120504600	Weak transcription	Lung	lung
31	chr3:120500400-120504800	Weak transcription	Pancreas	Pancrea
32	chr3:120500400-120505400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr3:120500400-120505400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr3:120500400-120505400	Weak transcription	Left Ventricle	heart
35	chr3:120500400-120505800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr3:120500400-120509200	Weak transcription	Ovary	ovary
37	chr3:120500400-120510600	Weak transcription	NHDF-Ad	bronchial
38	chr3:120500400-120511000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr3:120500400-120511000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr3:120500600-120502800	Weak transcription	Fetal Muscle Leg	muscle
41	chr3:120500600-120504600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr3:120500600-120509600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr3:120500600-120509600	Weak transcription	Thymus	Thymus
44	chr3:120500600-120509800	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr3:120500600-120510600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr3:120500600-120510800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr3:120500600-120510800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr3:120500600-120511000	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr3:120500600-120511600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr3:120500600-120513000	Weak transcription	HepG2	liver

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