Variant report

Variant	rs1487538
Chromosome Location	chr1:92739717-92739718
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 135 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:128)

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	1.00[EUR][1000 genomes]
rs11164660	1.00[EUR][1000 genomes]
rs11166022	1.00[EUR][1000 genomes]
rs11166028	1.00[EUR][1000 genomes]
rs11166030	1.00[EUR][1000 genomes]
rs11166044	1.00[EUR][1000 genomes]
rs11166045	1.00[EUR][1000 genomes]
rs11166066	1.00[EUR][1000 genomes]
rs11166068	1.00[EUR][1000 genomes]
rs11166107	1.00[EUR][1000 genomes]
rs11166118	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[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11166543	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11485369	0.84[AFR][1000 genomes]
rs12057625	1.00[EUR][1000 genomes]
rs12057715	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12057860	1.00[EUR][1000 genomes]
rs12058147	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12059439	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12059473	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]
rs12065163	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12065626	1.00[EUR][1000 genomes]
rs12065694	1.00[EUR][1000 genomes]
rs12065702	1.00[EUR][1000 genomes]
rs12066980	1.00[EUR][1000 genomes]
rs12067302	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12068883	1.00[EUR][1000 genomes]
rs12069582	1.00[EUR][1000 genomes]
rs12069690	1.00[AMR][1000 genomes];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	1.00[EUR][1000 genomes]
rs12073274	1.00[EUR][1000 genomes]
rs12074384	1.00[EUR][1000 genomes]
rs12075870	1.00[EUR][1000 genomes]
rs12076399	0.92[AFR][1000 genomes];1.00[AMR][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]
rs12083424	1.00[EUR][1000 genomes]
rs12085789	1.00[EUR][1000 genomes]
rs12086354	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12086426	1.00[EUR][1000 genomes]
rs12087282	1.00[EUR][1000 genomes]
rs12088142	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12088549	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12088562	1.00[EUR][1000 genomes]
rs12089666	1.00[EUR][1000 genomes]
rs12090217	1.00[EUR][1000 genomes]
rs12091427	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12092747	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12093038	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];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]
rs12096979	1.00[EUR][1000 genomes]
rs12097184	1.00[EUR][1000 genomes]
rs1483020	1.00[EUR][1000 genomes]
rs1483021	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	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17131625	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17131626	1.00[EUR][1000 genomes]
rs17131634	1.00[EUR][1000 genomes]
rs2046297	1.00[EUR][1000 genomes]
rs2170644	1.00[EUR][1000 genomes]
rs28696358	1.00[EUR][1000 genomes]
rs35166258	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35428675	1.00[EUR][1000 genomes]
rs41344152	1.00[YRI][hapmap]
rs57820459	1.00[EUR][1000 genomes]
rs58471288	1.00[EUR][1000 genomes]
rs59366523	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59385116	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59800659	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60332284	1.00[EUR][1000 genomes]
rs6657876	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6679077	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][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]
rs72958705	1.00[AMR][1000 genomes]
rs72958718	1.00[AMR][1000 genomes]
rs72958765	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72958768	1.00[EUR][1000 genomes]
rs72958786	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72958791	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72960809	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72960813	1.00[EUR][1000 genomes]
rs72960817	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72960824	0.84[AFR][1000 genomes];1.00[AMR][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	1.00[EUR][1000 genomes]
rs72962610	1.00[EUR][1000 genomes]
rs72962621	1.00[EUR][1000 genomes]
rs72962625	1.00[EUR][1000 genomes]
rs72962628	1.00[EUR][1000 genomes]
rs7512045	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7552286	1.00[EUR][1000 genomes]
rs9660398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	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	nsv871508	chr1:92478130-92781579	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	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
7	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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92707200-92764000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:92708200-92741200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:92709000-92762800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:92710000-92745200	Weak transcription	Brain Hippocampus Middle	brain
5	chr1:92710600-92753200	Weak transcription	Small Intestine	intestine
6	chr1:92710600-92762000	Weak transcription	Fetal Brain Male	brain
7	chr1:92710600-92763400	Weak transcription	Brain Angular Gyrus	brain
8	chr1:92710600-92764000	Weak transcription	Gastric	stomach
9	chr1:92711000-92763600	Weak transcription	HSMMtube	muscle
10	chr1:92711200-92742800	Weak transcription	NHLF	lung
11	chr1:92711200-92761600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr1:92711200-92764000	Weak transcription	Spleen	Spleen
13	chr1:92719400-92745000	Weak transcription	Esophagus	oesophagus
14	chr1:92719400-92764000	Weak transcription	Pancreas	Pancrea
15	chr1:92719600-92760800	Weak transcription	Fetal Heart	heart
16	chr1:92720000-92763800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr1:92720400-92748400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr1:92721600-92742400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr1:92722400-92763400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr1:92723000-92763800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr1:92724000-92760600	Weak transcription	Colon Smooth Muscle	Colon
22	chr1:92724200-92740800	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr1:92724200-92745000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:92724200-92746200	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr1:92724200-92746400	Strong transcription	Dnd41	blood
26	chr1:92724400-92740000	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr1:92724400-92746400	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr1:92724400-92746600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:92724600-92763800	Weak transcription	Brain Substantia Nigra	brain
30	chr1:92724800-92747400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:92725800-92764000	Weak transcription	Colonic Mucosa	Colon
32	chr1:92726400-92742400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:92726800-92746400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr1:92727000-92763800	Weak transcription	Right Ventricle	heart
35	chr1:92727200-92740400	Weak transcription	Osteobl	bone
36	chr1:92727200-92742000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:92727200-92745200	Weak transcription	Lung	lung
38	chr1:92727200-92759200	Weak transcription	A549	lung
39	chr1:92727200-92763800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr1:92729800-92763800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr1:92730800-92739800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:92731400-92742000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr1:92731400-92745000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:92731400-92751200	Weak transcription	GM12878-XiMat	blood
45	chr1:92732000-92740400	Weak transcription	NH-A	brain
46	chr1:92732000-92750800	Weak transcription	Fetal Kidney	kidney
47	chr1:92732000-92763600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr1:92732400-92740400	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr1:92732600-92745000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr1:92732800-92740400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links