Variant report

Variant	rs4761870
Chromosome Location	chr12:51751621-51751622
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	chr12:51748131..51749813-chr12:51749850..51751876,3	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11609991	0.83[ASN][1000 genomes]
rs12578771	0.80[EUR][1000 genomes]
rs12581282	0.80[EUR][1000 genomes]
rs17860277	0.88[EUR][1000 genomes]
rs17860287	0.84[EUR][1000 genomes]
rs17860296	0.85[EUR][1000 genomes]
rs17860302	0.85[EUR][1000 genomes]
rs17860346	0.81[EUR][1000 genomes]
rs17860364	0.80[EUR][1000 genomes]
rs17860365	0.81[EUR][1000 genomes]
rs17860378	0.80[EUR][1000 genomes]
rs17860380	0.81[EUR][1000 genomes]
rs17860382	0.81[EUR][1000 genomes]
rs17860387	0.81[EUR][1000 genomes]
rs2067763	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3782470	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4761881	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4761898	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs58213562	0.80[EUR][1000 genomes]
rs60641385	0.80[EUR][1000 genomes]
rs61570206	0.80[EUR][1000 genomes]
rs7311196	0.83[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	nsv482304	chr12:51653496-51814917	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv832408	chr12:51696605-51871339	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51735400-51756000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:51735600-51761400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr12:51736400-51765400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:51739400-51754200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:51740800-51753200	Weak transcription	NHDF-Ad	bronchial
6	chr12:51744200-51761400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr12:51745600-51752400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr12:51745800-51753200	Weak transcription	Stomach Mucosa	stomach
9	chr12:51745800-51763000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:51746000-51752800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr12:51746000-51755600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr12:51746000-51756400	Strong transcription	Placenta Amnion	Placenta Amnion
13	chr12:51746200-51752400	Weak transcription	Brain Angular Gyrus	brain
14	chr12:51746200-51752600	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr12:51746200-51753400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr12:51746200-51754800	Weak transcription	K562	blood
17	chr12:51746200-51757400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr12:51746200-51761400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr12:51746200-51762400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr12:51746200-51762600	Weak transcription	Colonic Mucosa	Colon
21	chr12:51746200-51762800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:51746600-51755600	Strong transcription	Fetal Intestine Small	intestine
23	chr12:51746800-51752400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:51746800-51759000	Strong transcription	Primary T cells from cord blood	blood
25	chr12:51746800-51759600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr12:51746800-51762600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:51747400-51754200	Weak transcription	Pancreas	Pancrea
28	chr12:51747400-51758200	Strong transcription	Thymus	Thymus
29	chr12:51747400-51759000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr12:51747400-51759600	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr12:51747400-51759800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr12:51747400-51760000	Strong transcription	Fetal Thymus	thymus
33	chr12:51747400-51761200	Strong transcription	Dnd41	blood
34	chr12:51747400-51762800	Strong transcription	NHEK	skin
35	chr12:51747800-51756400	Strong transcription	NHLF	lung
36	chr12:51747800-51758200	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr12:51748000-51757600	Strong transcription	Duodenum Mucosa	Duodenum
38	chr12:51748400-51753400	Strong transcription	Fetal Stomach	stomach
39	chr12:51748400-51754600	Strong transcription	Gastric	stomach
40	chr12:51748600-51753200	Strong transcription	Brain Inferior Temporal Lobe	brain
41	chr12:51749000-51762000	Weak transcription	HUVEC	blood vessel
42	chr12:51749200-51761200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr12:51749600-51752800	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr12:51749600-51759400	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr12:51749800-51753800	Weak transcription	Primary hematopoietic stem cells	blood
46	chr12:51750200-51752800	Enhancers	Primary B cells from peripheral blood	blood
47	chr12:51750200-51755000	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr12:51750200-51759000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr12:51750400-51753400	Strong transcription	Brain Substantia Nigra	brain
50	chr12:51750400-51755600	Weak transcription	Brain Anterior Caudate	brain

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