Variant report

Variant	rs41312063
Chromosome Location	chr7:150640738-150640739
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs11980123	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	esv2758140	chr7:150538821-150663697	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv2759574	chr7:150538821-150663697	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
8	nsv465212	chr7:150598492-150667210	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv609000	chr7:150598492-150667210	Genic enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
10	nsv465213	chr7:150606288-150667210	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
11	nsv609001	chr7:150606288-150667210	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
12	nsv1022246	chr7:150619660-150779924	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
13	nsv889463	chr7:150640285-150700946	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	20 gene(s)	inside rSNPs	diseases
14	nsv889464	chr7:150640285-150723467	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
15	nsv889465	chr7:150640285-150800823	Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150634400-150643800	Enhancers	HMEC	breast
2	chr7:150634800-150643600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:150635000-150644400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr7:150635600-150642400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:150635600-150642600	Weak transcription	Brain Anterior Caudate	brain
6	chr7:150635600-150648000	Weak transcription	Ovary	ovary
7	chr7:150637000-150642000	Weak transcription	Fetal Brain Female	brain
8	chr7:150637200-150641200	Enhancers	Fetal Heart	heart
9	chr7:150637800-150642400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr7:150637800-150652400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr7:150638000-150641600	Weak transcription	Fetal Intestine Small	intestine
12	chr7:150638000-150642000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:150638600-150640800	Enhancers	Primary T cells fromperipheralblood	blood
14	chr7:150638600-150641800	Enhancers	Esophagus	oesophagus
15	chr7:150638600-150642200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:150638800-150643400	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr7:150639400-150643400	Enhancers	Fetal Intestine Large	intestine
18	chr7:150639600-150642200	Weak transcription	Fetal Lung	lung
19	chr7:150639600-150642600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr7:150639600-150650800	Weak transcription	Pancreas	Pancrea
21	chr7:150639800-150641800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr7:150639800-150642200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:150639800-150642600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr7:150639800-150645000	Weak transcription	Right Atrium	heart
25	chr7:150639800-150649200	Weak transcription	Gastric	stomach
26	chr7:150640000-150640800	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr7:150640000-150641200	Weak transcription	Spleen	Spleen
28	chr7:150640000-150641200	Weak transcription	NHEK	skin
29	chr7:150640000-150641800	Weak transcription	Colon Smooth Muscle	Colon
30	chr7:150640000-150643400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr7:150640200-150641000	Weak transcription	Fetal Muscle Trunk	muscle
32	chr7:150640200-150642400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr7:150640400-150641000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:150640400-150641200	Weak transcription	Right Ventricle	heart
35	chr7:150640400-150641800	Strong transcription	Stomach Smooth Muscle	stomach
36	chr7:150640400-150642200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:150640400-150642200	Weak transcription	Left Ventricle	heart
38	chr7:150640400-150643400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr7:150640400-150646800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr7:150640600-150641200	Weak transcription	K562	blood
41	chr7:150640600-150641800	Strong transcription	Fetal Stomach	stomach
42	chr7:150640600-150642000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr7:150640600-150642600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr7:150640600-150648800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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