Variant report

Variant	rs2058522
Chromosome Location	chr7:8174078-8174079
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10156091	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap]
rs10215221	1.00[ASN][1000 genomes]
rs2058523	1.00[ASN][1000 genomes]
rs2192346	1.00[ASN][1000 genomes]
rs34500452	0.95[ASN][1000 genomes]
rs3807845	0.95[ASN][1000 genomes]
rs59897701	0.95[ASN][1000 genomes]
rs6463769	0.91[ASN][1000 genomes]
rs6945305	1.00[ASN][1000 genomes]
rs6973579	0.91[ASN][1000 genomes]
rs7794722	0.95[ASN][1000 genomes]
rs7795490	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752177	chr7:7729247-8177689	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv917172	chr7:7854632-8807385	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv1020686	chr7:8095118-8311985	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv538723	chr7:8095118-8311985	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2058522	ICA1	cis	cerebellum	SCAN

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:8150600-8200000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr7:8152600-8183200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr7:8155800-8185600	Weak transcription	Fetal Heart	heart
4	chr7:8159200-8186600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:8162000-8177400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr7:8162400-8192800	Weak transcription	Colonic Mucosa	Colon
7	chr7:8166000-8179600	Weak transcription	Right Ventricle	heart
8	chr7:8166000-8179800	Weak transcription	Gastric	stomach
9	chr7:8166000-8180200	Weak transcription	Fetal Intestine Large	intestine
10	chr7:8166000-8180200	Weak transcription	Spleen	Spleen
11	chr7:8166000-8186600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:8167800-8179800	Weak transcription	Lung	lung
13	chr7:8167800-8192200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr7:8168000-8183200	Weak transcription	Left Ventricle	heart
15	chr7:8168400-8179800	Weak transcription	Pancreas	Pancrea
16	chr7:8168400-8180000	Weak transcription	Fetal Stomach	stomach
17	chr7:8168800-8179800	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr7:8169200-8186600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr7:8170000-8192000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr7:8170200-8175200	Enhancers	Fetal Thymus	thymus
21	chr7:8170200-8179800	Weak transcription	Fetal Intestine Small	intestine
22	chr7:8171200-8174400	Enhancers	Primary B cells from peripheral blood	blood
23	chr7:8171400-8174200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr7:8171400-8174400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
25	chr7:8171800-8174600	Enhancers	Fetal Kidney	kidney
26	chr7:8172000-8175400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr7:8172000-8180000	Weak transcription	Duodenum Mucosa	Duodenum
28	chr7:8172200-8174200	Enhancers	Thymus	Thymus
29	chr7:8172200-8174600	Enhancers	K562	blood
30	chr7:8172200-8175600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr7:8172400-8175000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr7:8172400-8187400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr7:8172400-8215800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr7:8172600-8175400	Enhancers	GM12878-XiMat	blood
35	chr7:8172600-8175800	Enhancers	Primary T cells from cord blood	blood
36	chr7:8172800-8175800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr7:8172800-8179800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr7:8172800-8180800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr7:8173000-8174200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:8173000-8177400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:8173000-8188400	Weak transcription	Primary B cells from cord blood	blood
42	chr7:8173200-8174400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr7:8173400-8174200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr7:8173600-8174200	Enhancers	NH-A	brain
45	chr7:8173800-8174200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:8173800-8174200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr7:8173800-8174200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
48	chr7:8173800-8174200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr7:8173800-8174200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr7:8173800-8174400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood

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