Variant report

Variant	rs11175497
Chromosome Location	chr12:65041085-65041086
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:65040482..65043254-chr12:65048682..65050546,2	MCF-7	breast:
2	chr12:65032387..65033941-chr12:65038755..65041564,2	K562	blood:
3	chr12:65040502..65042059-chr12:65074229..65075840,2	MCF-7	breast:
4	chr12:65039325..65042042-chr12:65062487..65065547,3	K562	blood:

Variant related genes	Relation type
ENSG00000256314	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1008159	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1008160	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11175470	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11175471	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11175476	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11175478	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11175481	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11175509	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12230536	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12814316	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12816847	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12824246	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12829878	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12830436	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12831875	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12833931	0.82[AMR][1000 genomes]
rs17223244	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17223377	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17223391	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17823442	0.82[AMR][1000 genomes]
rs2078398	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35512928	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35674528	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35705715	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35860561	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7959471	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832443	chr12:64878856-65057265	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv832444	chr12:64981484-65168472	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv559203	chr12:65002969-65199922	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1045216	chr12:65009102-65176894	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv541513	chr12:65009102-65176894	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv469457	chr12:65009243-65195977	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv559204	chr12:65009243-65195977	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer 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 miRNA miRNA target site	15 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	chr12:65019800-65047400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:65021400-65043400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:65025000-65059600	Weak transcription	Thymus	Thymus
4	chr12:65025200-65044000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr12:65026400-65043200	Weak transcription	Fetal Stomach	stomach
6	chr12:65027400-65041800	Weak transcription	Spleen	Spleen
7	chr12:65027800-65047600	Weak transcription	Psoas Muscle	Psoas
8	chr12:65028200-65047400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:65028400-65047400	Weak transcription	NHDF-Ad	bronchial
10	chr12:65028400-65047400	Weak transcription	NHLF	lung
11	chr12:65028600-65056400	Weak transcription	NHEK	skin
12	chr12:65029000-65041800	Weak transcription	Left Ventricle	heart
13	chr12:65029200-65041600	Weak transcription	Fetal Muscle Leg	muscle
14	chr12:65029600-65042600	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr12:65029600-65044000	Weak transcription	Fetal Lung	lung
16	chr12:65031000-65047600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr12:65031200-65043400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr12:65031200-65043600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr12:65031200-65043800	Weak transcription	Fetal Intestine Small	intestine
20	chr12:65031400-65042600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:65031400-65043400	Weak transcription	Small Intestine	intestine
22	chr12:65032600-65041800	Weak transcription	Fetal Heart	heart
23	chr12:65033000-65041800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr12:65033000-65052600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr12:65033400-65043200	Weak transcription	HepG2	liver
26	chr12:65033400-65043400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr12:65033600-65059400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr12:65033800-65043800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr12:65034000-65042000	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr12:65034000-65043600	Weak transcription	Primary B cells from cord blood	blood
31	chr12:65034200-65043600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr12:65034600-65042600	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr12:65034800-65042800	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr12:65035400-65043400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr12:65037400-65041600	Weak transcription	Lung	lung
36	chr12:65037400-65045200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:65038000-65041800	Weak transcription	GM12878-XiMat	blood
38	chr12:65038000-65043600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr12:65038200-65043400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr12:65038200-65043600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr12:65038200-65044000	Weak transcription	HUVEC	blood vessel
42	chr12:65038200-65051200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:65038400-65042000	Weak transcription	Aorta	Aorta
44	chr12:65038400-65042000	Weak transcription	Placenta	Placenta
45	chr12:65038400-65043800	Weak transcription	Stomach Mucosa	stomach
46	chr12:65038400-65044000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:65038600-65041600	Weak transcription	Gastric	stomach
48	chr12:65038600-65043200	Weak transcription	Adipose Nuclei	Adipose
49	chr12:65038800-65041600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr12:65038800-65041800	Weak transcription	Pancreas	Pancrea

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