Variant report

Variant	rs2799625
Chromosome Location	chr1:62301702-62301703
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	chr1:62294253..62296248-chr1:62299623..62302341,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11207848	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs1286813	1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs1572670	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2788615	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2811325	0.94[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4456122	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[ASN][1000 genomes]
rs6587948	0.83[CHB][hapmap];0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000294	chr1:61746280-62350718	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer 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	28 gene(s)	inside rSNPs	diseases
2	esv3693319	chr1:62207254-62402549	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv830004	chr1:62242944-62382228	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv1099	chr1:62275317-62315943	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv518627	chr1:62279594-62517947	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv522020	chr1:62279594-62517947	Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62220200-62310800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr1:62228600-62391800	Weak transcription	Small Intestine	intestine
3	chr1:62250000-62302800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:62251200-62306400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr1:62255600-62302400	Weak transcription	Brain Anterior Caudate	brain
6	chr1:62263800-62303800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr1:62263800-62343600	Weak transcription	Colonic Mucosa	Colon
8	chr1:62264600-62321600	Weak transcription	Pancreas	Pancrea
9	chr1:62264600-62335600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:62271800-62329800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr1:62278200-62316400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:62282800-62303600	Weak transcription	Hela-S3	cervix
13	chr1:62283800-62302600	Strong transcription	Rectal Mucosa Donor 31	rectum
14	chr1:62285600-62338000	Weak transcription	Fetal Kidney	kidney
15	chr1:62287800-62302200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:62289400-62305400	Weak transcription	A549	lung
17	chr1:62290000-62304600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:62290600-62308600	Weak transcription	Brain Substantia Nigra	brain
19	chr1:62290800-62326000	Weak transcription	Left Ventricle	heart
20	chr1:62291400-62305000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:62291600-62305000	Weak transcription	Fetal Heart	heart
22	chr1:62292000-62304800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:62292000-62309200	Weak transcription	Gastric	stomach
24	chr1:62292200-62302200	Weak transcription	Colon Smooth Muscle	Colon
25	chr1:62292400-62302200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr1:62293400-62302000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr1:62293600-62302200	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr1:62293800-62321600	Weak transcription	Esophagus	oesophagus
29	chr1:62293800-62343200	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr1:62294400-62304000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr1:62294400-62330200	Weak transcription	Fetal Stomach	stomach
32	chr1:62294600-62321000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:62294800-62302000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr1:62294800-62305200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr1:62294800-62324000	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr1:62295000-62322600	Weak transcription	Primary B cells from peripheral blood	blood
37	chr1:62295200-62304600	Weak transcription	NHEK	skin
38	chr1:62295200-62307600	Weak transcription	Aorta	Aorta
39	chr1:62295800-62302400	Weak transcription	HepG2	liver
40	chr1:62295800-62310800	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr1:62295800-62321600	Weak transcription	Primary T cells from cord blood	blood
42	chr1:62296000-62302200	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr1:62296000-62303000	Weak transcription	HMEC	breast
44	chr1:62296000-62303200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr1:62296000-62304000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr1:62296000-62310800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr1:62296000-62321400	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr1:62296000-62321400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr1:62296200-62321600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr1:62296600-62301800	Weak transcription	Duodenum Mucosa	Duodenum

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