Variant report

Variant	rs4761881
Chromosome Location	chr12:51758536-51758537
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:51717645..51719204-chr12:51757324..51760023,2	MCF-7	breast:
2	chr12:51744372..51748268-chr12:51756905..51759729,4	K562	blood:

Variant related genes	Relation type
ENSG00000110934	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10783434	0.81[AMR][1000 genomes]
rs11341	0.93[CEU][hapmap]
rs17860277	0.82[EUR][1000 genomes]
rs17860299	0.86[CEU][hapmap]
rs17860317	0.85[CEU][hapmap]
rs2067763	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2288367	0.86[CEU][hapmap]
rs3782470	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3858637	0.93[CEU][hapmap]
rs4761870	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4761898	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7311196	0.92[CEU][hapmap]
rs7312857	0.93[CEU][hapmap]

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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51735600-51761400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:51736400-51765400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:51744200-51761400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr12:51745800-51763000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:51746200-51761400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr12:51746200-51762400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:51746200-51762600	Weak transcription	Colonic Mucosa	Colon
8	chr12:51746200-51762800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:51746800-51759000	Strong transcription	Primary T cells from cord blood	blood
10	chr12:51746800-51759600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:51746800-51762600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:51747400-51759000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:51747400-51759600	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr12:51747400-51759800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr12:51747400-51760000	Strong transcription	Fetal Thymus	thymus
16	chr12:51747400-51761200	Strong transcription	Dnd41	blood
17	chr12:51747400-51762800	Strong transcription	NHEK	skin
18	chr12:51749000-51762000	Weak transcription	HUVEC	blood vessel
19	chr12:51749200-51761200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr12:51749600-51759400	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr12:51750200-51759000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:51751200-51783400	Weak transcription	Right Atrium	heart
23	chr12:51751600-51762400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:51752000-51758800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr12:51752000-51762800	Weak transcription	Lung	lung
26	chr12:51752000-51765000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr12:51752600-51759600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:51752800-51762600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr12:51752800-51765000	Weak transcription	Placenta	Placenta
30	chr12:51752800-51765200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr12:51753200-51762000	Weak transcription	GM12878-XiMat	blood
32	chr12:51753200-51781400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr12:51754000-51758800	Enhancers	Brain Cingulate Gyrus	brain
34	chr12:51754200-51761400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr12:51754200-51764600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr12:51754400-51764600	Weak transcription	NHDF-Ad	bronchial
37	chr12:51754600-51761200	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr12:51754600-51763000	Weak transcription	Gastric	stomach
39	chr12:51755000-51765200	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr12:51755600-51759000	Genic enhancers	Fetal Intestine Small	intestine
41	chr12:51755600-51765000	Weak transcription	Esophagus	oesophagus
42	chr12:51755800-51761200	Weak transcription	Primary hematopoietic stem cells	blood
43	chr12:51755800-51762800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr12:51756200-51762800	Weak transcription	Pancreas	Pancrea
45	chr12:51756400-51759000	Enhancers	HepG2	liver
46	chr12:51756400-51759200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr12:51756400-51759600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr12:51756400-51762600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr12:51756600-51762800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr12:51756600-51765000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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