Variant report

Variant	rs12812332
Chromosome Location	chr12:122938768-122938769
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122905298..122908189-chr12:122936931..122940541,4	K562	blood:
2	chr12:122934144..122936687-chr12:122938638..122940695,2	K562	blood:

Variant related genes	Relation type
ENSG00000130779	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10161184	0.84[CEU][hapmap];0.90[CHB][hapmap]
rs10161488	0.86[EUR][1000 genomes]
rs10744218	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10744242	0.84[CHB][hapmap];0.95[JPT][hapmap]
rs10773090	0.83[CEU][hapmap];0.80[EUR][1000 genomes]
rs10773108	0.84[EUR][1000 genomes]
rs10773117	0.82[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.86[EUR][1000 genomes]
rs10773162	0.92[EUR][1000 genomes]
rs10773230	0.84[CHB][hapmap];0.95[JPT][hapmap]
rs10846714	0.82[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.81[EUR][1000 genomes]
rs10846852	0.93[EUR][1000 genomes]
rs10846899	0.85[ASN][1000 genomes]
rs10846912	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10846968	0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11057522	0.82[CEU][hapmap]
rs11057813	0.84[EUR][1000 genomes]
rs11057819	0.84[EUR][1000 genomes]
rs11058178	0.81[ASN][1000 genomes]
rs11058272	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11058562	0.95[JPT][hapmap]
rs1129167	0.83[CEU][hapmap];0.86[CHB][hapmap]
rs11503023	0.85[EUR][1000 genomes]
rs11610303	0.84[CHB][hapmap];0.95[JPT][hapmap]
rs11830957	0.93[EUR][1000 genomes]
rs12314537	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12817342	0.89[CHB][hapmap];0.95[JPT][hapmap]
rs12818177	0.85[EUR][1000 genomes]
rs12829449	0.92[EUR][1000 genomes]
rs1392142	0.82[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.90[EUR][1000 genomes]
rs1532579	0.82[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.90[EUR][1000 genomes]
rs1553178	0.95[CHB][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes]
rs2341438	0.93[EUR][1000 genomes]
rs3825096	0.95[CHB][hapmap];0.86[JPT][hapmap];0.90[EUR][1000 genomes]
rs4356269	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs4758657	0.90[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs4758658	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs4758660	0.84[CHB][hapmap];0.95[JPT][hapmap]
rs4758664	0.91[EUR][1000 genomes]
rs4758692	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs4758693	0.82[EUR][1000 genomes]
rs4758695	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs6416295	0.84[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs6488947	0.82[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.84[EUR][1000 genomes]
rs6489014	0.89[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6489051	0.84[CHB][hapmap];0.95[JPT][hapmap]
rs6489056	0.95[JPT][hapmap]
rs7132830	0.84[ASN][1000 genomes]
rs7134381	0.84[CHB][hapmap];0.95[JPT][hapmap]
rs7296680	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs7298839	0.84[CHB][hapmap];0.90[JPT][hapmap]
rs7303688	0.81[ASN][1000 genomes]
rs7305360	0.90[EUR][1000 genomes]
rs7311573	0.89[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7313121	0.81[EUR][1000 genomes]
rs7313284	0.83[CEU][hapmap];0.80[EUR][1000 genomes]
rs7955513	0.89[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7959550	0.82[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.93[EUR][1000 genomes]
rs7961258	0.82[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.86[EUR][1000 genomes]
rs7964981	0.93[EUR][1000 genomes]
rs7970007	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7972832	0.90[EUR][1000 genomes]
rs7973480	0.90[EUR][1000 genomes]
rs7974160	0.82[CEU][hapmap]
rs7975492	0.82[CEU][hapmap];0.85[CHB][hapmap]
rs7978119	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs868181	0.82[CEU][hapmap];0.84[CHB][hapmap]
rs9788228	0.85[CEU][hapmap];0.81[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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv973945	chr12:122923254-122958354	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122922800-122960400	Weak transcription	Right Atrium	heart
2	chr12:122934800-122942800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:122935400-122943800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:122936600-122939200	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr12:122936600-122939200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr12:122936600-122939800	Enhancers	Primary T cells fromperipheralblood	blood
7	chr12:122936800-122939000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr12:122936800-122939200	Enhancers	Primary T cells from cord blood	blood
9	chr12:122937000-122938800	Enhancers	GM12878-XiMat	blood
10	chr12:122937000-122939000	Enhancers	Primary B cells from cord blood	blood
11	chr12:122937200-122938800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr12:122937200-122938800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr12:122937200-122939000	Enhancers	Primary B cells from peripheral blood	blood
14	chr12:122937200-122939000	Enhancers	Primary hematopoietic stem cells	blood
15	chr12:122937200-122939000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:122937200-122939000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:122937200-122939000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:122937200-122939200	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr12:122937200-122939600	Enhancers	Fetal Thymus	thymus
20	chr12:122937400-122938800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
21	chr12:122937400-122938800	Enhancers	Small Intestine	intestine
22	chr12:122937400-122939000	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr12:122937400-122939000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr12:122937400-122939000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:122937400-122939000	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr12:122937400-122939800	Enhancers	Duodenum Mucosa	Duodenum
27	chr12:122937600-122938800	Enhancers	Thymus	Thymus
28	chr12:122937600-122939000	Enhancers	Spleen	Spleen
29	chr12:122937800-122939200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr12:122937800-122939200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr12:122937800-122939200	Enhancers	Dnd41	blood
32	chr12:122937800-122939200	Enhancers	Hela-S3	cervix
33	chr12:122938000-122939000	Enhancers	Placenta	Placenta
34	chr12:122938200-122938800	Enhancers	Fetal Intestine Large	intestine
35	chr12:122938200-122939000	Enhancers	Esophagus	oesophagus
36	chr12:122938400-122938800	Enhancers	Muscle Satellite Cultured Cells	--
37	chr12:122938400-122938800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:122938400-122938800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:122938400-122938800	Enhancers	Colon Smooth Muscle	Colon
40	chr12:122938400-122938800	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr12:122938400-122938800	Enhancers	NHEK	skin
42	chr12:122938400-122939000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr12:122938400-122939000	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr12:122938400-122939000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr12:122938400-122939400	Flanking Active TSS	HepG2	liver
46	chr12:122938400-122940200	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr12:122938600-122938800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr12:122938600-122939000	Enhancers	HMEC	breast
49	chr12:122938600-122939200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:122938600-122939200	Enhancers	Primary T killer memory cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links