Variant report

Variant	rs2013701
Chromosome Location	chr4:89885086-89885087
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:89883284..89885618-chr4:89895803..89899472,3	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10008568	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs10015415	0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs13149750	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs1458562	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs1708667	0.80[ASN][1000 genomes]
rs1795720	0.80[ASN][1000 genomes]
rs1795736	0.80[ASN][1000 genomes]
rs1795739	0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs1812329	0.95[ASN][1000 genomes]
rs1903003	0.85[CEU][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1964516	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2045517	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs2125409	0.83[ASN][1000 genomes]
rs2178586	0.80[ASN][1000 genomes]
rs2609261	0.83[CHB][hapmap]
rs2609262	0.83[CHB][hapmap]
rs2869966	1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs2869967	1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs2904259	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3846287	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4416442	0.94[ASN][1000 genomes]
rs4505789	0.86[ASN][1000 genomes]
rs4693974	0.85[CHB][hapmap];0.83[ASN][1000 genomes]
rs4693978	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs4693980	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6823536	0.80[ASN][1000 genomes]
rs6824218	0.89[ASN][1000 genomes]
rs6828137	0.84[JPT][hapmap]
rs6837671	0.93[ASN][1000 genomes]
rs6849143	0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs6852288	0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs6852928	0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs7671167	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7671261	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7674369	0.95[ASN][1000 genomes]
rs7682317	0.94[ASN][1000 genomes]
rs7690839	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470051	chr4:89644931-90643144	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1009354	chr4:89725914-89985155	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv998651	chr4:89800245-89933445	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv537175	chr4:89800245-89933445	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv879532	chr4:89811195-89917135	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv879533	chr4:89832532-89917135	ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv1007025	chr4:89837734-90098046	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv537176	chr4:89837734-90098046	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	esv1829430	chr4:89853598-89908308	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:89871000-89888600	Weak transcription	Small Intestine	intestine
2	chr4:89873000-89886000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr4:89877000-89889000	Weak transcription	Gastric	stomach
4	chr4:89877800-89885600	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr4:89878400-89927600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr4:89878600-89888600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr4:89879600-89885800	Weak transcription	Esophagus	oesophagus
8	chr4:89879600-89888800	Weak transcription	Psoas Muscle	Psoas
9	chr4:89879600-89894000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr4:89879600-89911200	Weak transcription	K562	blood
11	chr4:89879600-89913000	Weak transcription	Aorta	Aorta
12	chr4:89879800-89894600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr4:89879800-89909200	Weak transcription	Ovary	ovary
14	chr4:89880000-89902400	Weak transcription	Colon Smooth Muscle	Colon
15	chr4:89880000-89903000	Weak transcription	Pancreas	Pancrea
16	chr4:89882200-89889000	Weak transcription	Hela-S3	cervix
17	chr4:89882400-89885800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr4:89882400-89889000	Weak transcription	Adipose Nuclei	Adipose
19	chr4:89882400-89894200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:89882400-89916400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr4:89883400-89886400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr4:89883600-89885200	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr4:89883600-89885400	Enhancers	Fetal Intestine Large	intestine
24	chr4:89883600-89886600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:89884000-89886400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr4:89884200-89887000	Enhancers	Placenta	Placenta
27	chr4:89884600-89886400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr4:89884600-89886600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:89884600-89886600	Enhancers	Stomach Mucosa	stomach
30	chr4:89884600-89886600	Enhancers	HMEC	breast
31	chr4:89884600-89886600	Enhancers	NHDF-Ad	bronchial
32	chr4:89884800-89885600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr4:89884800-89885600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr4:89884800-89885600	Enhancers	Osteobl	bone
35	chr4:89884800-89886400	Enhancers	NHEK	skin
36	chr4:89884800-89886600	Enhancers	Muscle Satellite Cultured Cells	--
37	chr4:89885000-89885200	Enhancers	H9 Cell Line	embryonic stem cell
38	chr4:89885000-89885200	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr4:89885000-89885200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr4:89885000-89885200	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr4:89885000-89885200	Enhancers	HepG2	liver
42	chr4:89885000-89885400	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr4:89885000-89885400	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr4:89885000-89885400	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr4:89885000-89885400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr4:89885000-89885400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr4:89885000-89885400	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr4:89885000-89885400	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr4:89885000-89885400	Flanking Active TSS	A549	lung
50	chr4:89885000-89885400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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