Variant report

Variant	rs4851462
Chromosome Location	chr2:98357163-98357164
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:98326109..98328548-chr2:98356181..98358918,2	MCF-7	breast:
2	chr2:98355724..98358443-chr2:98358896..98360638,2	MCF-7	breast:
3	chr2:98356777..98357774-chr2:99001218..99001971,3	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11678558	0.86[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs11678591	0.96[CEU][hapmap]
rs11679828	0.96[CEU][hapmap];0.83[GIH][hapmap];0.90[TSI][hapmap]
rs11680321	0.87[EUR][1000 genomes]
rs11684749	0.83[EUR][1000 genomes]
rs11686881	0.87[CEU][hapmap];0.89[CHB][hapmap];0.81[CHD][hapmap];0.85[JPT][hapmap];0.90[LWK][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11687510	0.82[CEU][hapmap];0.87[TSI][hapmap]
rs11688829	0.96[CEU][hapmap]
rs11691494	0.83[EUR][1000 genomes]
rs11692010	0.85[EUR][1000 genomes]
rs11692470	0.96[CEU][hapmap]
rs12052222	0.80[EUR][1000 genomes]
rs12104810	0.80[EUR][1000 genomes]
rs12988571	0.96[CEU][hapmap];0.83[GIH][hapmap];0.94[TSI][hapmap];0.83[EUR][1000 genomes]
rs12995673	0.83[EUR][1000 genomes]
rs13006932	0.85[EUR][1000 genomes]
rs13008968	0.81[EUR][1000 genomes]
rs13020776	0.83[EUR][1000 genomes]
rs13023980	0.96[CEU][hapmap]
rs13032265	0.83[EUR][1000 genomes]
rs13033383	0.87[CEU][hapmap];0.90[MKK][hapmap];0.88[TSI][hapmap]
rs13034929	0.83[EUR][1000 genomes]
rs1470483	0.85[EUR][1000 genomes]
rs17488834	0.87[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17488897	0.96[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs17489454	0.95[CEU][hapmap];0.97[TSI][hapmap];0.83[EUR][1000 genomes]
rs17489915	0.83[EUR][1000 genomes]
rs17489984	0.83[EUR][1000 genomes]
rs17490429	0.96[CEU][hapmap]
rs1838797	0.80[EUR][1000 genomes]
rs2044458	0.87[EUR][1000 genomes]
rs2278700	0.96[CEU][hapmap];0.97[TSI][hapmap];0.82[EUR][1000 genomes]
rs2305143	0.96[CEU][hapmap];0.97[TSI][hapmap];0.83[EUR][1000 genomes]
rs2871183	0.83[EUR][1000 genomes]
rs3192177	0.87[CEU][hapmap];0.90[LWK][hapmap];0.90[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs34149969	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34502870	0.83[EUR][1000 genomes]
rs34654057	0.87[EUR][1000 genomes]
rs35424768	0.85[EUR][1000 genomes]
rs4311104	0.83[EUR][1000 genomes]
rs55776387	0.83[EUR][1000 genomes]
rs6711101	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs6738389	0.96[CEU][hapmap];0.94[TSI][hapmap];0.87[EUR][1000 genomes]
rs71412824	0.82[EUR][1000 genomes]
rs717417	0.82[EUR][1000 genomes]
rs7421146	0.85[CEU][hapmap]
rs895438	0.96[CEU][hapmap];0.83[GIH][hapmap];0.87[TSI][hapmap];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv874696	chr2:98309882-98362907	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4851462	ACTR1B	cis	Esophagus Muscularis	GTEx
rs4851462	ZNF514	cis	cerebellum	SCAN

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98336400-98361400	Weak transcription	Primary B cells from cord blood	blood
2	chr2:98336600-98358800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr2:98337800-98357400	Strong transcription	Dnd41	blood
4	chr2:98338800-98358800	Strong transcription	Thymus	Thymus
5	chr2:98339600-98357200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:98342600-98357200	Strong transcription	Primary T cells from cord blood	blood
7	chr2:98343600-98357200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr2:98345000-98366400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr2:98347000-98360600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr2:98347200-98357400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr2:98347200-98358800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:98348200-98372400	Weak transcription	Esophagus	oesophagus
13	chr2:98348800-98364600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:98350000-98360400	Weak transcription	Fetal Intestine Small	intestine
15	chr2:98351600-98357200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:98352200-98398800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr2:98353400-98358400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:98354200-98357200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:98354200-98357400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr2:98354400-98358800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:98354400-98368200	Weak transcription	Colonic Mucosa	Colon
22	chr2:98355000-98359600	Genic enhancers	Primary T cells fromperipheralblood	blood
23	chr2:98355000-98373200	Weak transcription	Gastric	stomach
24	chr2:98356200-98358000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr2:98356400-98357800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr2:98356600-98357200	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr2:98356600-98358200	Weak transcription	Spleen	Spleen
28	chr2:98356600-98360000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr2:98356600-98360200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr2:98356600-98362000	Weak transcription	Colon Smooth Muscle	Colon
31	chr2:98356800-98357800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr2:98356800-98358200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
33	chr2:98356800-98362200	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr2:98356800-98363000	Weak transcription	HSMMtube	muscle
35	chr2:98357000-98357200	Enhancers	Brain Substantia Nigra	brain
36	chr2:98357000-98357200	Enhancers	HepG2	liver
37	chr2:98357000-98357200	Enhancers	K562	blood
38	chr2:98357000-98357400	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr2:98357000-98357400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:98357000-98358000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:98357000-98358800	Genic enhancers	Fetal Thymus	thymus
42	chr2:98357000-98359000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
43	chr2:98357000-98359200	Enhancers	Fetal Muscle Leg	muscle
44	chr2:98357000-98365400	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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