Variant report

Variant	rs7526622
Chromosome Location	chr1:196621892-196621893
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	chr1:196621426..196625290-chr1:196639780..196642382,3	K562	blood:
2	chr1:196461764..196464743-chr1:196621639..196623886,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10733085	1.00[EUR][1000 genomes]
rs10754186	1.00[EUR][1000 genomes]
rs11799956	1.00[EUR][1000 genomes]
rs11810886	1.00[EUR][1000 genomes]
rs1339953	1.00[EUR][1000 genomes]
rs34860966	1.00[EUR][1000 genomes]
rs57291296	1.00[EUR][1000 genomes]
rs58029172	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59464070	1.00[EUR][1000 genomes]
rs60858311	1.00[EUR][1000 genomes]
rs61005987	1.00[EUR][1000 genomes]
rs61234560	1.00[EUR][1000 genomes]
rs6674960	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6675088	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6676437	1.00[EUR][1000 genomes]
rs6676634	1.00[EUR][1000 genomes]
rs6682755	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6684014	1.00[EUR][1000 genomes]
rs6689826	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6701301	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6701566	1.00[EUR][1000 genomes]
rs6702372	1.00[EUR][1000 genomes]
rs73067676	1.00[EUR][1000 genomes]
rs73067680	1.00[EUR][1000 genomes]
rs73067681	1.00[EUR][1000 genomes]
rs73067684	1.00[EUR][1000 genomes]
rs73067685	1.00[EUR][1000 genomes]
rs73067688	1.00[EUR][1000 genomes]
rs73067689	1.00[EUR][1000 genomes]
rs73067702	1.00[EUR][1000 genomes]
rs73069708	1.00[EUR][1000 genomes]
rs73069711	1.00[EUR][1000 genomes]
rs73069713	1.00[EUR][1000 genomes]
rs73069718	1.00[EUR][1000 genomes]
rs73069736	1.00[EUR][1000 genomes]
rs73069738	1.00[EUR][1000 genomes]
rs73069741	1.00[EUR][1000 genomes]
rs73069743	1.00[EUR][1000 genomes]
rs73069750	1.00[EUR][1000 genomes]
rs73069787	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73069791	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73069796	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73071737	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73071798	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73071802	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73073535	1.00[EUR][1000 genomes]
rs7523390	1.00[EUR][1000 genomes]
rs7535653	1.00[EUR][1000 genomes]
rs7537967	1.00[EUR][1000 genomes]
rs9659561	1.00[EUR][1000 genomes]
rs9662866	1.00[EUR][1000 genomes]
rs9728591	1.00[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	nsv931415	chr1:196270759-196744780	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv2757766	chr1:196590837-196961802	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv428290	chr1:196590837-196961802	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	esv2758990	chr1:196590837-197169772	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv427897	chr1:196590837-197169772	Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv428565	chr1:196604434-196772489	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv872958	chr1:196615838-196645117	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
9	nsv872959	chr1:196619720-196660261	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
10	nsv872960	chr1:196621221-196641257	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196619800-196623800	Active TSS	K562	blood
2	chr1:196619800-196625000	Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr1:196620000-196623400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:196620400-196623800	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr1:196620400-196623800	Active TSS	NHDF-Ad	bronchial
6	chr1:196620400-196626000	Active TSS	Liver	Liver
7	chr1:196620600-196622200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:196620600-196622600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:196620600-196623000	Active TSS	Fetal Lung	lung
10	chr1:196620600-196623600	Active TSS	Fetal Muscle Leg	muscle
11	chr1:196620600-196623800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:196620600-196623800	Active TSS	NHLF	lung
13	chr1:196620600-196624600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:196620800-196622000	Active TSS	Fetal Kidney	kidney
15	chr1:196620800-196622200	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr1:196620800-196622200	Active TSS	Fetal Intestine Large	intestine
17	chr1:196620800-196623200	Active TSS	Stomach Smooth Muscle	stomach
18	chr1:196620800-196623400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:196620800-196623600	Active TSS	HSMM	muscle
20	chr1:196620800-196625000	Active TSS	Adipose Nuclei	Adipose
21	chr1:196621000-196622000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:196621000-196622200	Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr1:196621000-196622400	Active TSS	NH-A	brain
24	chr1:196621000-196622800	Active TSS	Dnd41	blood
25	chr1:196621000-196623400	Active TSS	Muscle Satellite Cultured Cells	--
26	chr1:196621000-196623600	Active TSS	Osteobl	bone
27	chr1:196621000-196625000	Active TSS	Rectal Mucosa Donor 31	rectum
28	chr1:196621200-196622800	Weak transcription	Brain Hippocampus Middle	brain
29	chr1:196621400-196622000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:196621400-196622000	Active TSS	HMEC	breast
31	chr1:196621400-196622200	Weak transcription	HSMMtube	muscle
32	chr1:196621400-196622600	Active TSS	Primary hematopoietic stem cells	blood
33	chr1:196621400-196622600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr1:196621400-196622800	Weak transcription	Ovary	ovary
35	chr1:196621400-196622800	Weak transcription	Right Atrium	heart
36	chr1:196621400-196623000	Weak transcription	Psoas Muscle	Psoas
37	chr1:196621400-196623000	Active TSS	HUVEC	blood vessel
38	chr1:196621400-196623800	Active TSS	A549	lung
39	chr1:196621400-196623800	Weak transcription	Hela-S3	cervix
40	chr1:196621400-196624400	Weak transcription	Fetal Stomach	stomach
41	chr1:196621400-196630000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr1:196621800-196624000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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