Variant report

Variant	rs4871093
Chromosome Location	chr8:121681577-121681578
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:121676047..121678791-chr8:121679807..121682137,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11783798	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11993445	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34245253	0.96[ASN][1000 genomes]
rs35780243	0.96[ASN][1000 genomes]
rs4076711	0.82[EUR][1000 genomes]
rs4077726	0.82[EUR][1000 genomes]
rs4077727	0.80[EUR][1000 genomes]
rs4307384	0.95[ASN][1000 genomes]
rs4360333	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4361791	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4366115	0.82[EUR][1000 genomes]
rs4392948	0.82[EUR][1000 genomes]
rs4512418	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4515598	0.82[EUR][1000 genomes]
rs4607661	0.82[EUR][1000 genomes]
rs4870742	0.95[ASN][1000 genomes]
rs4871092	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5003013	0.82[EUR][1000 genomes]
rs59486364	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6469944	0.82[EUR][1000 genomes]
rs66856703	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6986798	0.81[EUR][1000 genomes]
rs6987331	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6987352	0.81[EUR][1000 genomes]
rs7828909	0.82[EUR][1000 genomes]
rs7837985	0.82[EUR][1000 genomes]
rs7842679	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv6369	chr8:121654665-121699920	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv1016172	chr8:121679590-121929916	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv2627304	chr8:121680723-121682329	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv3492378	chr8:121680735-121681685	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3492379	chr8:121680735-121681685	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv891422	chr8:121680857-121819478	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv3395311	chr8:121680996-121683019	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv9493	chr8:121681428-121682246	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv2384067	chr8:121681489-121682196	Strong transcription Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv3487970	chr8:121681569-121682079	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv3479942	chr8:121681569-121682099	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121663600-121685000	Weak transcription	Aorta	Aorta
2	chr8:121667400-121690200	Weak transcription	Fetal Stomach	stomach
3	chr8:121672600-121690400	Weak transcription	Fetal Kidney	kidney
4	chr8:121672600-121699600	Weak transcription	HSMM	muscle
5	chr8:121673200-121684800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:121678000-121685400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:121678400-121683000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
8	chr8:121679000-121684800	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr8:121679000-121685800	Weak transcription	Psoas Muscle	Psoas
10	chr8:121679200-121685000	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr8:121679200-121685000	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr8:121679200-121686200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:121679600-121684800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr8:121679600-121685000	Weak transcription	Lung	lung
15	chr8:121679800-121714600	Weak transcription	Spleen	Spleen
16	chr8:121680000-121681600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:121680000-121682400	Strong transcription	Liver	Liver
18	chr8:121680000-121683200	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr8:121680000-121684000	Strong transcription	Primary T cells from cord blood	blood
20	chr8:121680200-121682200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:121680200-121682600	Enhancers	NHDF-Ad	bronchial
22	chr8:121680400-121681600	Enhancers	HSMMtube	muscle
23	chr8:121680400-121681600	Enhancers	Osteobl	bone
24	chr8:121680600-121681600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:121680600-121682400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr8:121680600-121683000	Strong transcription	HepG2	liver
27	chr8:121680600-121685200	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr8:121680600-121697600	Weak transcription	Gastric	stomach
29	chr8:121680600-121704600	Weak transcription	Fetal Intestine Large	intestine
30	chr8:121680800-121681600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:121680800-121681600	Enhancers	Muscle Satellite Cultured Cells	--
32	chr8:121680800-121701000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr8:121681000-121682200	Weak transcription	Primary B cells from cord blood	blood
34	chr8:121681000-121682200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr8:121681200-121681600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:121681200-121681600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr8:121681200-121681600	Weak transcription	NHLF	lung
38	chr8:121681200-121682200	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr8:121681400-121682400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr8:121681400-121684800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr8:121681400-121685000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr8:121681400-121685000	Weak transcription	Fetal Muscle Leg	muscle
43	chr8:121681400-121704200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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