Variant report

Variant	rs12065163
Chromosome Location	chr1:92789305-92789306
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 124 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs10399670	1.00[EUR][1000 genomes]
rs10399724	1.00[EUR][1000 genomes]
rs10399865	1.00[EUR][1000 genomes]
rs10399960	1.00[EUR][1000 genomes]
rs11164364	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11164660	1.00[EUR][1000 genomes]
rs11166189	1.00[EUR][1000 genomes]
rs11166200	1.00[EUR][1000 genomes]
rs11166203	1.00[EUR][1000 genomes]
rs11166390	1.00[EUR][1000 genomes]
rs11166543	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11485369	0.99[AFR][1000 genomes]
rs12057715	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12057860	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12058147	1.00[EUR][1000 genomes]
rs12059439	1.00[EUR][1000 genomes]
rs12059473	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12059645	1.00[EUR][1000 genomes]
rs12061480	1.00[EUR][1000 genomes]
rs12061953	1.00[EUR][1000 genomes]
rs12062143	1.00[EUR][1000 genomes]
rs12063053	1.00[EUR][1000 genomes]
rs12063404	1.00[EUR][1000 genomes]
rs12064015	1.00[EUR][1000 genomes]
rs12064732	1.00[EUR][1000 genomes]
rs12065694	1.00[EUR][1000 genomes]
rs12065702	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12066980	1.00[EUR][1000 genomes]
rs12067302	1.00[EUR][1000 genomes]
rs12068883	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12069582	1.00[EUR][1000 genomes]
rs12069690	1.00[EUR][1000 genomes]
rs12069984	1.00[EUR][1000 genomes]
rs12070123	1.00[EUR][1000 genomes]
rs12070249	1.00[EUR][1000 genomes]
rs12071033	1.00[EUR][1000 genomes]
rs12071088	1.00[EUR][1000 genomes]
rs12072804	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12073274	1.00[EUR][1000 genomes]
rs12074384	1.00[EUR][1000 genomes]
rs12075870	1.00[EUR][1000 genomes]
rs12076399	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12076954	1.00[EUR][1000 genomes]
rs12078738	1.00[EUR][1000 genomes]
rs12080119	1.00[EUR][1000 genomes]
rs12080525	1.00[EUR][1000 genomes]
rs12081539	1.00[EUR][1000 genomes]
rs12083424	1.00[EUR][1000 genomes]
rs12085789	1.00[EUR][1000 genomes]
rs12086354	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12086426	1.00[EUR][1000 genomes]
rs12087282	1.00[EUR][1000 genomes]
rs12088142	0.99[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12088549	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs12088562	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12089666	1.00[EUR][1000 genomes]
rs12090217	1.00[EUR][1000 genomes]
rs12091427	0.99[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12092747	1.00[EUR][1000 genomes]
rs12093038	1.00[EUR][1000 genomes]
rs12093590	1.00[EUR][1000 genomes]
rs12093905	1.00[EUR][1000 genomes]
rs12094086	1.00[EUR][1000 genomes]
rs12095429	1.00[EUR][1000 genomes]
rs12097184	1.00[EUR][1000 genomes]
rs1483020	1.00[EUR][1000 genomes]
rs1483021	1.00[EUR][1000 genomes]
rs1487538	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17100275	1.00[EUR][1000 genomes]
rs17131601	1.00[EUR][1000 genomes]
rs17131604	1.00[EUR][1000 genomes]
rs17131606	1.00[EUR][1000 genomes]
rs17131614	1.00[EUR][1000 genomes]
rs17131625	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17131626	1.00[EUR][1000 genomes]
rs17131634	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2046297	1.00[EUR][1000 genomes]
rs28696358	1.00[EUR][1000 genomes]
rs28716853	1.00[EUR][1000 genomes]
rs35166258	0.99[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs41344152	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs57820459	1.00[EUR][1000 genomes]
rs58471288	1.00[EUR][1000 genomes]
rs59366523	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59385116	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59800659	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60332284	1.00[EUR][1000 genomes]
rs6657876	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6679077	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72956818	1.00[EUR][1000 genomes]
rs72956832	1.00[EUR][1000 genomes]
rs72956833	1.00[EUR][1000 genomes]
rs72956863	1.00[EUR][1000 genomes]
rs72956874	1.00[EUR][1000 genomes]
rs72956893	1.00[EUR][1000 genomes]
rs72958765	1.00[EUR][1000 genomes]
rs72958768	1.00[EUR][1000 genomes]
rs72958786	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72958791	1.00[EUR][1000 genomes]
rs72960809	0.99[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72960813	1.00[EUR][1000 genomes]
rs72960817	0.99[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72960824	0.99[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72960880	1.00[EUR][1000 genomes]
rs72960900	1.00[EUR][1000 genomes]
rs72962603	1.00[EUR][1000 genomes]
rs72962608	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72962610	1.00[EUR][1000 genomes]
rs72962621	1.00[EUR][1000 genomes]
rs72962625	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72962628	1.00[EUR][1000 genomes]
rs7512045	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7552286	1.00[EUR][1000 genomes]
rs9660398	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv530046	chr1:92277460-92799794	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv830592	chr1:92669282-92805629	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv870667	chr1:92697188-92813741	Active TSS Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv871352	chr1:92761127-92807238	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv870854	chr1:92765102-92807238	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv871387	chr1:92765102-92813741	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
10	esv3400141	chr1:92787714-92789662	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92765200-92791600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:92765200-92792000	Weak transcription	Aorta	Aorta
3	chr1:92765200-92792000	Weak transcription	Esophagus	oesophagus
4	chr1:92765600-92789600	Weak transcription	Psoas Muscle	Psoas
5	chr1:92765600-92791000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:92765600-92791600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:92765600-92791800	Weak transcription	Lung	lung
8	chr1:92765600-92791800	Weak transcription	Pancreas	Pancrea
9	chr1:92765600-92791800	Weak transcription	Right Ventricle	heart
10	chr1:92765600-92792000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:92765600-92792000	Weak transcription	Spleen	Spleen
12	chr1:92765800-92791600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:92765800-92791800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:92765800-92791800	Weak transcription	Gastric	stomach
15	chr1:92765800-92850000	Weak transcription	Small Intestine	intestine
16	chr1:92766000-92792000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:92766400-92791600	Weak transcription	Brain Hippocampus Middle	brain
18	chr1:92771000-92791400	Weak transcription	NHEK	skin
19	chr1:92771800-92794800	Weak transcription	Brain Angular Gyrus	brain
20	chr1:92771800-92823800	Weak transcription	Colonic Mucosa	Colon
21	chr1:92772000-92789400	Weak transcription	Fetal Brain Male	brain
22	chr1:92773000-92800800	Weak transcription	NHDF-Ad	bronchial
23	chr1:92773800-92791800	Weak transcription	NHLF	lung
24	chr1:92774000-92791800	Weak transcription	Brain Anterior Caudate	brain
25	chr1:92774200-92791800	Weak transcription	Brain Substantia Nigra	brain
26	chr1:92774200-92791800	Weak transcription	Thymus	Thymus
27	chr1:92778000-92791800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:92778000-92799200	Weak transcription	Hela-S3	cervix
29	chr1:92778200-92790000	Weak transcription	HMEC	breast
30	chr1:92779400-92789400	Weak transcription	Fetal Brain Female	brain
31	chr1:92780600-92791600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:92781800-92792000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr1:92782200-92803400	Weak transcription	Stomach Mucosa	stomach
34	chr1:92782800-92789600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr1:92784400-92808200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr1:92784600-92791600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr1:92785000-92791200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:92785000-92791200	Weak transcription	K562	blood
39	chr1:92785000-92792000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr1:92785200-92793400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr1:92786200-92791800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr1:92787400-92790200	Strong transcription	Fetal Muscle Leg	muscle
43	chr1:92788200-92791600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:92788400-92791800	Weak transcription	Fetal Intestine Small	intestine
45	chr1:92788400-92791800	Weak transcription	Fetal Stomach	stomach
46	chr1:92788800-92790000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr1:92788800-92790000	Strong transcription	Left Ventricle	heart
48	chr1:92788800-92790800	Strong transcription	Primary hematopoietic stem cells	blood
49	chr1:92788800-92791000	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr1:92788800-92791200	Strong transcription	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links