Variant report

Variant	rs11514251
Chromosome Location	chr12:62736946-62736947
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10877822	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10877827	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10877828	0.95[CEU][hapmap];0.85[CHB][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10877833	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10877839	0.85[CEU][hapmap]
rs11174442	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12316469	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1532435	0.85[CEU][hapmap]
rs4145153	0.85[CEU][hapmap]
rs767390	0.85[CEU][hapmap]
rs7969077	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7975633	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035150	chr12:62615347-62785005	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1049465	chr12:62657011-62785005	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1053403	chr12:62657011-62809413	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv530690	chr12:62678463-62999462	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv899153	chr12:62716330-62817736	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
6	esv1803510	chr12:62729782-62802643	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62698400-62741800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr12:62698600-62745800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:62700000-62737000	Weak transcription	NHLF	lung
4	chr12:62700000-62757000	Weak transcription	HUVEC	blood vessel
5	chr12:62701600-62738600	Weak transcription	Fetal Brain Male	brain
6	chr12:62701600-62742000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr12:62701600-62769200	Weak transcription	NHEK	skin
8	chr12:62710000-62744400	Weak transcription	Pancreas	Pancrea
9	chr12:62712200-62755400	Weak transcription	Small Intestine	intestine
10	chr12:62717000-62737000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr12:62717000-62737400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr12:62717000-62750200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr12:62717000-62769200	Weak transcription	Fetal Kidney	kidney
14	chr12:62717000-62777000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr12:62717000-62783200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr12:62717000-62784600	Weak transcription	Colon Smooth Muscle	Colon
17	chr12:62717200-62752600	Weak transcription	HepG2	liver
18	chr12:62717200-62756800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:62717200-62778400	Weak transcription	Hela-S3	cervix
20	chr12:62717600-62742000	Weak transcription	NH-A	brain
21	chr12:62719600-62740800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr12:62725400-62747000	Weak transcription	A549	lung
23	chr12:62725600-62737000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr12:62725600-62749000	Weak transcription	HMEC	breast
25	chr12:62727000-62743200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:62727200-62738800	Weak transcription	Osteobl	bone
27	chr12:62727200-62753000	Weak transcription	HSMMtube	muscle
28	chr12:62729200-62740400	Weak transcription	Fetal Heart	heart
29	chr12:62729200-62753000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr12:62729600-62737400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:62729800-62776800	Weak transcription	HSMM	muscle
32	chr12:62730000-62763800	Weak transcription	Psoas Muscle	Psoas
33	chr12:62731200-62737200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr12:62732200-62737000	Weak transcription	Brain Cingulate Gyrus	brain
35	chr12:62734200-62739600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
36	chr12:62734600-62738800	Weak transcription	Brain Anterior Caudate	brain
37	chr12:62735000-62738400	Strong transcription	Primary hematopoietic stem cells	blood
38	chr12:62735000-62739000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr12:62735400-62738800	Strong transcription	Primary B cells from cord blood	blood
40	chr12:62735400-62739600	Strong transcription	Primary T cells from cord blood	blood
41	chr12:62735600-62740800	Strong transcription	Primary B cells from peripheral blood	blood
42	chr12:62735600-62758600	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr12:62735800-62738400	Strong transcription	K562	blood
44	chr12:62735800-62739600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr12:62735800-62739600	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr12:62735800-62739800	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr12:62736000-62738000	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr12:62736000-62738800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr12:62736000-62739800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr12:62736200-62737000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links