Variant report

Variant	rs11982617
Chromosome Location	chr7:102500447-102500448
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:102499316..102501151-chr7:102502125..102504544,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10487279	0.96[EUR][1000 genomes]
rs1057066	0.86[EUR][1000 genomes]
rs4400322	0.87[EUR][1000 genomes]
rs61404409	0.92[EUR][1000 genomes]
rs6952186	0.82[ASN][1000 genomes]
rs6973081	0.96[EUR][1000 genomes]
rs73408241	0.89[EUR][1000 genomes]
rs73408272	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	esv2752138	chr7:102358320-102787135	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv470382	chr7:102375663-102538515	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv608057	chr7:102440184-102538515	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv608058	chr7:102466741-102571713	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv608059	chr7:102470455-102504773	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv464667	chr7:102486254-102624192	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	nsv608060	chr7:102486254-102624192	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102470000-102516400	Weak transcription	Pancreas	Pancrea
2	chr7:102477800-102500800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:102498800-102501200	Enhancers	HSMM	muscle
4	chr7:102499000-102501400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:102499200-102500600	Enhancers	Colon Smooth Muscle	Colon
6	chr7:102499200-102501200	Enhancers	Fetal Stomach	stomach
7	chr7:102499200-102501200	Enhancers	NHLF	lung
8	chr7:102499400-102500600	Enhancers	Stomach Smooth Muscle	stomach
9	chr7:102499600-102500600	Enhancers	Aorta	Aorta
10	chr7:102499600-102500600	Enhancers	Fetal Muscle Leg	muscle
11	chr7:102499600-102500800	Enhancers	Fetal Lung	lung
12	chr7:102499600-102501200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:102499600-102501200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:102499600-102501200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr7:102499600-102501200	Strong transcription	K562	blood
16	chr7:102499600-102501400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:102499800-102500600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:102499800-102500600	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr7:102499800-102501000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr7:102499800-102501200	Enhancers	A549	lung
21	chr7:102500000-102500600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr7:102500000-102500600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr7:102500000-102500600	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr7:102500000-102500600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr7:102500000-102500600	Enhancers	Left Ventricle	heart
26	chr7:102500000-102500800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr7:102500000-102500800	Enhancers	Fetal Kidney	kidney
28	chr7:102500000-102501000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr7:102500000-102501000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:102500000-102501000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:102500000-102501200	Enhancers	Gastric	stomach
32	chr7:102500000-102501200	Enhancers	Ovary	ovary
33	chr7:102500000-102501200	Enhancers	HSMMtube	muscle
34	chr7:102500000-102501200	Enhancers	Osteobl	bone
35	chr7:102500000-102501800	Enhancers	NHDF-Ad	bronchial
36	chr7:102500200-102500600	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr7:102500200-102500600	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr7:102500200-102500800	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr7:102500200-102501200	Enhancers	H1 Cell Line	embryonic stem cell
40	chr7:102500200-102501200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr7:102500200-102501600	Enhancers	HUVEC	blood vessel
42	chr7:102500400-102500600	Enhancers	H9 Cell Line	embryonic stem cell
43	chr7:102500400-102500600	Flanking Active TSS	HepG2	liver
44	chr7:102500400-102501400	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr7:102500400-102503600	Weak transcription	Placenta Amnion	Placenta Amnion

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