Variant report

Variant	rs17095127
Chromosome Location	chr12:45229477-45229478
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:45228113..45230766-chr12:45231414..45233959,2	K562	blood:
2	chr12:45228200..45231167-chr12:45235682..45238420,2	K562	blood:
3	chr12:45229297..45232222-chr12:45268941..45271789,2	K562	blood:

Variant related genes	Relation type
ENSG00000184613	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10161447	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10506258	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10785535	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10785536	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10785537	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10785538	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10785540	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182754	0.82[EUR][1000 genomes]
rs11504491	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11524561	0.82[AMR][1000 genomes]
rs11833874	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12227370	0.95[EUR][1000 genomes]
rs12316579	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12818329	0.89[EUR][1000 genomes]
rs1376126	0.92[CEU][hapmap];0.81[AMR][1000 genomes]
rs1395397	0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1506679	0.86[CEU][hapmap]
rs1605296	0.82[CEU][hapmap];0.80[CHB][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1605297	0.92[CEU][hapmap];0.84[CHB][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1605298	0.92[CEU][hapmap];0.84[CHB][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1857927	0.86[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2055675	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2055676	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2055677	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2258058	0.84[AMR][1000 genomes]
rs2408083	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2408084	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2408085	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2465109	0.85[AMR][1000 genomes]
rs2658948	0.84[CEU][hapmap]
rs2658954	0.81[EUR][1000 genomes]
rs2658957	0.92[CEU][hapmap];0.88[CHB][hapmap];0.85[AMR][1000 genomes]
rs2658959	0.82[AMR][1000 genomes]
rs2658965	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2658966	0.84[CHB][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2710453	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2710455	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2710457	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2710459	0.92[CEU][hapmap];0.88[CHB][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2710460	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2710461	0.85[AMR][1000 genomes]
rs2710462	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4238095	0.92[CEU][hapmap];0.88[CHB][hapmap];0.85[AMR][1000 genomes]
rs4300447	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4415832	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4499065	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4768075	0.92[CEU][hapmap];0.88[CHB][hapmap];0.85[AMR][1000 genomes]
rs4768577	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4768578	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55741117	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56892258	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57190502	0.95[EUR][1000 genomes]
rs74079970	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7957052	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7957160	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7960817	1.00[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap]
rs7971834	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7973268	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7975618	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7976293	1.00[JPT][hapmap]
rs884259	0.92[CEU][hapmap];0.84[CHB][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs884260	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs978696	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3378050	chr12:44963059-45264289	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv832394	chr12:45077573-45269305	Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
3	nsv1036926	chr12:45131884-45273648	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
4	nsv541484	chr12:45131884-45273648	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
5	nsv983317	chr12:45228308-45229655	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45213600-45237800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:45220200-45229800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:45220600-45242000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr12:45221800-45242000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:45225200-45231400	Enhancers	Fetal Intestine Small	intestine
6	chr12:45226200-45230600	Enhancers	Fetal Brain Male	brain
7	chr12:45226800-45230000	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr12:45227400-45230800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr12:45227800-45230400	Enhancers	Fetal Brain Female	brain
10	chr12:45228000-45229600	Enhancers	Primary T cells fromperipheralblood	blood
11	chr12:45228000-45231200	Enhancers	Fetal Intestine Large	intestine
12	chr12:45228000-45231400	Enhancers	Duodenum Mucosa	Duodenum
13	chr12:45228400-45229600	Enhancers	Esophagus	oesophagus
14	chr12:45228400-45229800	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr12:45228400-45230200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr12:45228800-45230000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:45228800-45230000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:45228800-45230000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:45228800-45230600	Enhancers	NHEK	skin
20	chr12:45228800-45231800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr12:45228800-45232000	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr12:45228800-45234200	Enhancers	Primary T cells from cord blood	blood
23	chr12:45229000-45229600	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr12:45229000-45229600	Enhancers	Brain Angular Gyrus	brain
25	chr12:45229000-45229600	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr12:45229000-45229600	Enhancers	Stomach Smooth Muscle	stomach
27	chr12:45229000-45229800	Enhancers	Brain Anterior Caudate	brain
28	chr12:45229000-45229800	Enhancers	Brain Cingulate Gyrus	brain
29	chr12:45229000-45229800	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr12:45229000-45230000	Enhancers	Brain Hippocampus Middle	brain
31	chr12:45229000-45230200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:45229000-45231200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr12:45229000-45231600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr12:45229200-45229600	Enhancers	Pancreas	Pancrea
35	chr12:45229200-45229800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:45229200-45230000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr12:45229200-45230000	Enhancers	Brain Substantia Nigra	brain
38	chr12:45229200-45230400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr12:45229400-45229800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr12:45229400-45230000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr12:45229400-45230200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:45229400-45230400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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