Variant report

Variant	rs2811325
Chromosome Location	chr1:62302622-62302623
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
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];0.82[TSI][hapmap];0.87[EUR][1000 genomes]
rs1572670	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2788615	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2799625	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	0.84[ASW][hapmap];0.94[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.93[MKK][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6587948	0.83[CHB][hapmap];0.84[CHD][hapmap];0.82[JPT][hapmap];0.86[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	nsv531876	chr1:62302313-62504349	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 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	chr1:62263800-62303800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:62263800-62343600	Weak transcription	Colonic Mucosa	Colon
7	chr1:62264600-62321600	Weak transcription	Pancreas	Pancrea
8	chr1:62264600-62335600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:62271800-62329800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:62278200-62316400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:62282800-62303600	Weak transcription	Hela-S3	cervix
12	chr1:62285600-62338000	Weak transcription	Fetal Kidney	kidney
13	chr1:62289400-62305400	Weak transcription	A549	lung
14	chr1:62290000-62304600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:62290600-62308600	Weak transcription	Brain Substantia Nigra	brain
16	chr1:62290800-62326000	Weak transcription	Left Ventricle	heart
17	chr1:62291400-62305000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:62291600-62305000	Weak transcription	Fetal Heart	heart
19	chr1:62292000-62304800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:62292000-62309200	Weak transcription	Gastric	stomach
21	chr1:62293800-62321600	Weak transcription	Esophagus	oesophagus
22	chr1:62293800-62343200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr1:62294400-62304000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr1:62294400-62330200	Weak transcription	Fetal Stomach	stomach
25	chr1:62294600-62321000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:62294800-62305200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr1:62294800-62324000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr1:62295000-62322600	Weak transcription	Primary B cells from peripheral blood	blood
29	chr1:62295200-62304600	Weak transcription	NHEK	skin
30	chr1:62295200-62307600	Weak transcription	Aorta	Aorta
31	chr1:62295800-62310800	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr1:62295800-62321600	Weak transcription	Primary T cells from cord blood	blood
33	chr1:62296000-62303000	Weak transcription	HMEC	breast
34	chr1:62296000-62303200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr1:62296000-62304000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr1:62296000-62310800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr1:62296000-62321400	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr1:62296000-62321400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr1:62296200-62321600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr1:62297400-62321400	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr1:62297600-62303600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr1:62297600-62307000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:62297800-62304200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr1:62297800-62310000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr1:62297800-62310600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr1:62297800-62313800	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr1:62297800-62321600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr1:62298000-62330000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr1:62298800-62303400	Weak transcription	HUVEC	blood vessel
50	chr1:62300200-62321800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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