Variant report

Variant	rs12140995
Chromosome Location	chr1:169182068-169182069
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 238 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:232)

rs_ID	r²[population]
rs10800406	0.84[EUR][1000 genomes]
rs10800407	0.84[EUR][1000 genomes]
rs10800410	0.90[EUR][1000 genomes]
rs10800411	0.90[EUR][1000 genomes]
rs10800413	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10800415	0.89[EUR][1000 genomes]
rs10800417	0.89[EUR][1000 genomes]
rs10800418	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10800419	0.88[EUR][1000 genomes]
rs10800420	0.89[EUR][1000 genomes]
rs10919076	0.84[EUR][1000 genomes]
rs10919082	0.88[EUR][1000 genomes]
rs10919083	0.88[EUR][1000 genomes]
rs10919084	0.88[EUR][1000 genomes]
rs10919086	0.87[EUR][1000 genomes]
rs10919090	0.90[EUR][1000 genomes]
rs10919094	0.90[EUR][1000 genomes]
rs10919097	1.00[ASN][1000 genomes]
rs10919098	1.00[ASN][1000 genomes]
rs10919099	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10919100	1.00[ASN][1000 genomes]
rs10919101	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10919104	1.00[ASN][1000 genomes]
rs10919106	0.88[EUR][1000 genomes]
rs10919107	0.88[EUR][1000 genomes]
rs10919108	0.88[EUR][1000 genomes]
rs10919109	1.00[ASN][1000 genomes]
rs10919110	1.00[ASN][1000 genomes]
rs10919111	1.00[ASN][1000 genomes]
rs11802117	0.88[EUR][1000 genomes]
rs11802143	0.88[EUR][1000 genomes]
rs11806445	1.00[ASN][1000 genomes]
rs11808938	0.89[EUR][1000 genomes]
rs11809256	0.89[EUR][1000 genomes]
rs11810319	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12057856	0.88[EUR][1000 genomes]
rs12059281	0.88[EUR][1000 genomes]
rs12060959	0.90[ASN][1000 genomes]
rs12061405	1.00[ASN][1000 genomes]
rs12062884	1.00[ASN][1000 genomes]
rs12065884	0.88[EUR][1000 genomes]
rs12067018	0.88[EUR][1000 genomes]
rs12067072	0.90[EUR][1000 genomes]
rs12070031	1.00[ASN][1000 genomes]
rs12071122	1.00[ASN][1000 genomes]
rs12071224	1.00[ASN][1000 genomes]
rs12071277	0.90[EUR][1000 genomes]
rs12072226	0.88[EUR][1000 genomes]
rs12072953	0.88[EUR][1000 genomes]
rs12074492	1.00[ASN][1000 genomes]
rs12075832	0.90[EUR][1000 genomes]
rs12076469	0.88[EUR][1000 genomes]
rs12080100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12081283	0.89[EUR][1000 genomes]
rs12081562	1.00[ASN][1000 genomes]
rs12082618	0.84[EUR][1000 genomes]
rs12082810	0.84[EUR][1000 genomes]
rs12083287	0.90[EUR][1000 genomes]
rs12084549	0.89[EUR][1000 genomes]
rs12086292	0.90[EUR][1000 genomes]
rs12086983	0.84[EUR][1000 genomes]
rs12089118	0.84[EUR][1000 genomes]
rs12089602	1.00[ASN][1000 genomes]
rs12116551	0.82[EUR][1000 genomes]
rs12117362	0.82[EUR][1000 genomes]
rs12117559	0.81[EUR][1000 genomes]
rs12120493	0.88[EUR][1000 genomes]
rs12120960	0.81[EUR][1000 genomes]
rs12121395	0.89[EUR][1000 genomes]
rs12122348	0.82[EUR][1000 genomes]
rs12123168	0.88[EUR][1000 genomes]
rs12124144	0.88[EUR][1000 genomes]
rs12124168	0.88[EUR][1000 genomes]
rs12124738	0.82[EUR][1000 genomes]
rs12124744	0.90[EUR][1000 genomes]
rs12125057	0.82[EUR][1000 genomes]
rs12125921	0.88[EUR][1000 genomes]
rs12125985	0.88[EUR][1000 genomes]
rs12126032	0.90[EUR][1000 genomes]
rs12126266	0.89[EUR][1000 genomes]
rs12127305	0.90[EUR][1000 genomes]
rs12127613	0.86[EUR][1000 genomes]
rs12129969	0.90[EUR][1000 genomes]
rs12129979	0.90[EUR][1000 genomes]
rs12130764	0.90[EUR][1000 genomes]
rs12130858	0.81[EUR][1000 genomes]
rs12135928	0.84[EUR][1000 genomes]
rs12140967	0.84[EUR][1000 genomes]
rs12141151	0.89[EUR][1000 genomes]
rs12141917	0.89[EUR][1000 genomes]
rs12143131	0.81[EUR][1000 genomes]
rs12143135	0.81[EUR][1000 genomes]
rs12143790	0.82[EUR][1000 genomes]
rs12143963	0.82[EUR][1000 genomes]
rs12143965	0.87[EUR][1000 genomes]
rs12144230	0.81[EUR][1000 genomes]
rs12144705	0.84[EUR][1000 genomes]
rs12145193	0.82[EUR][1000 genomes]
rs12145939	0.84[EUR][1000 genomes]
rs12145969	0.89[EUR][1000 genomes]
rs12354315	0.84[EUR][1000 genomes]
rs12562404	0.86[EUR][1000 genomes]
rs12564596	0.88[EUR][1000 genomes]
rs12568636	0.90[EUR][1000 genomes]
rs12724093	0.88[EUR][1000 genomes]
rs12724812	0.87[EUR][1000 genomes]
rs12724863	0.90[EUR][1000 genomes]
rs12728614	0.82[EUR][1000 genomes]
rs12734206	0.90[EUR][1000 genomes]
rs12735503	0.88[EUR][1000 genomes]
rs12736110	0.86[EUR][1000 genomes]
rs12736723	0.90[EUR][1000 genomes]
rs12736817	0.81[EUR][1000 genomes]
rs12739920	0.87[EUR][1000 genomes]
rs12740226	1.00[ASN][1000 genomes]
rs12740501	0.81[EUR][1000 genomes]
rs12741540	0.87[EUR][1000 genomes]
rs12744184	0.86[EUR][1000 genomes]
rs12744341	0.85[EUR][1000 genomes]
rs12744655	0.86[EUR][1000 genomes]
rs12745732	0.83[EUR][1000 genomes]
rs12745997	0.88[EUR][1000 genomes]
rs12747242	0.90[EUR][1000 genomes]
rs12750161	0.81[EUR][1000 genomes]
rs12751062	0.87[EUR][1000 genomes]
rs12753816	0.82[EUR][1000 genomes]
rs12755385	0.87[EUR][1000 genomes]
rs12756799	0.88[EUR][1000 genomes]
rs12758208	0.84[EUR][1000 genomes]
rs1320965	0.83[EUR][1000 genomes]
rs1320967	0.84[EUR][1000 genomes]
rs1320968	0.84[EUR][1000 genomes]
rs1358712	0.84[EUR][1000 genomes]
rs1419323	0.84[EUR][1000 genomes]
rs1419324	0.84[EUR][1000 genomes]
rs17349467	0.82[EUR][1000 genomes]
rs1830492	0.88[EUR][1000 genomes]
rs1830495	0.88[EUR][1000 genomes]
rs1936533	0.82[EUR][1000 genomes]
rs2012763	0.84[EUR][1000 genomes]
rs2032044	0.90[EUR][1000 genomes]
rs2040446	0.82[EUR][1000 genomes]
rs2050119	0.88[EUR][1000 genomes]
rs2143287	0.84[EUR][1000 genomes]
rs2157597	0.82[EUR][1000 genomes]
rs2179492	0.90[EUR][1000 genomes]
rs2300159	0.87[EUR][1000 genomes]
rs2420010	0.84[EUR][1000 genomes]
rs2420012	0.89[EUR][1000 genomes]
rs34250651	0.88[EUR][1000 genomes]
rs35144581	1.00[ASN][1000 genomes]
rs35447001	0.82[EUR][1000 genomes]
rs35458577	0.82[EUR][1000 genomes]
rs35631014	0.88[EUR][1000 genomes]
rs35774511	0.88[EUR][1000 genomes]
rs36079696	0.88[EUR][1000 genomes]
rs3737681	0.88[EUR][1000 genomes]
rs3753297	0.89[EUR][1000 genomes]
rs3753298	1.00[ASN][1000 genomes]
rs3753300	0.87[EUR][1000 genomes]
rs3766053	0.84[EUR][1000 genomes]
rs3766054	0.84[EUR][1000 genomes]
rs3766055	0.84[EUR][1000 genomes]
rs3766059	0.88[EUR][1000 genomes]
rs3766060	0.88[EUR][1000 genomes]
rs3766061	0.88[EUR][1000 genomes]
rs3766062	0.90[EUR][1000 genomes]
rs3766064	0.82[ASN][1000 genomes]
rs3766065	0.90[EUR][1000 genomes]
rs3766066	0.90[EUR][1000 genomes]
rs3766067	0.90[EUR][1000 genomes]
rs3766069	0.90[EUR][1000 genomes]
rs3766070	0.90[EUR][1000 genomes]
rs3766071	0.90[EUR][1000 genomes]
rs3766077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3766082	1.00[ASN][1000 genomes]
rs3820053	0.88[EUR][1000 genomes]
rs3820055	0.88[EUR][1000 genomes]
rs3820056	0.88[EUR][1000 genomes]
rs3820057	1.00[ASN][1000 genomes]
rs4140540	0.90[EUR][1000 genomes]
rs4385775	0.89[EUR][1000 genomes]
rs4445529	0.89[EUR][1000 genomes]
rs4656181	0.88[EUR][1000 genomes]
rs4656653	0.84[EUR][1000 genomes]
rs4656654	0.88[EUR][1000 genomes]
rs4656655	0.88[EUR][1000 genomes]
rs4656656	0.88[EUR][1000 genomes]
rs4656659	0.90[EUR][1000 genomes]
rs4656660	0.90[EUR][1000 genomes]
rs4656661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4656662	0.89[EUR][1000 genomes]
rs4656664	0.81[EUR][1000 genomes]
rs4656665	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4656666	0.89[EUR][1000 genomes]
rs4656667	0.88[EUR][1000 genomes]
rs4656668	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4656669	0.81[EUR][1000 genomes]
rs61806209	0.88[EUR][1000 genomes]
rs61806242	0.82[EUR][1000 genomes]
rs61806244	0.82[EUR][1000 genomes]
rs61808870	0.81[EUR][1000 genomes]
rs61808871	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61808872	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6679084	0.89[EUR][1000 genomes]
rs6688038	0.89[EUR][1000 genomes]
rs6688139	0.89[EUR][1000 genomes]
rs6695177	0.88[EUR][1000 genomes]
rs6695252	0.88[EUR][1000 genomes]
rs6703463	0.89[EUR][1000 genomes]
rs6704482	0.89[EUR][1000 genomes]
rs67485965	0.86[EUR][1000 genomes]
rs72700019	0.87[EUR][1000 genomes]
rs745922	0.84[EUR][1000 genomes]
rs7516097	0.82[EUR][1000 genomes]
rs7518554	0.88[EUR][1000 genomes]
rs7529937	0.84[EUR][1000 genomes]
rs7541564	0.87[EUR][1000 genomes]
rs7541675	0.88[EUR][1000 genomes]
rs7541700	0.85[EUR][1000 genomes]
rs7547686	0.85[EUR][1000 genomes]
rs7552484	0.84[EUR][1000 genomes]
rs909929	0.90[EUR][1000 genomes]
rs909930	0.90[EUR][1000 genomes]
rs909931	0.90[EUR][1000 genomes]
rs932394	0.87[EUR][1000 genomes]
rs932395	0.88[EUR][1000 genomes]
rs958581	0.86[EUR][1000 genomes]
rs9887854	0.84[EUR][1000 genomes]
rs9887857	0.84[EUR][1000 genomes]
rs9887903	0.84[EUR][1000 genomes]
rs9887916	0.84[EUR][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	esv3522071	chr1:168978325-169339044	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	esv3522072	chr1:168978325-169339044	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv429913	chr1:169177019-169296744	Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv1834321	chr1:169180302-169240975	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv1845262	chr1:169180302-169240975	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs12140995	NME7	cis	Heart Left Ventricle	GTEx
rs12140995	NME7	Cis_1M	lymphoblastoid	RTeQTL
rs12140995	NME7	cis	Artery Tibial	GTEx
rs12140995	NME7	cis	Esophagus Muscularis	GTEx

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169130400-169195200	Weak transcription	Pancreas	Pancrea
2	chr1:169163600-169184000	Weak transcription	Ovary	ovary
3	chr1:169167800-169186800	Weak transcription	Primary T cells from cord blood	blood
4	chr1:169168000-169183800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:169171600-169184000	Weak transcription	Fetal Intestine Small	intestine
6	chr1:169172400-169183800	Weak transcription	Brain Germinal Matrix	brain
7	chr1:169172400-169207600	Weak transcription	Esophagus	oesophagus
8	chr1:169172600-169227000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:169173200-169202000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:169173600-169183800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr1:169176600-169206200	Weak transcription	Aorta	Aorta
12	chr1:169177400-169207400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:169178600-169191400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:169180000-169210000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:169180600-169206200	Weak transcription	Left Ventricle	heart
16	chr1:169181200-169184000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr1:169181400-169185400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:169181800-169184400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr1:169182000-169184600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr1:169182000-169185400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:169182000-169201000	Weak transcription	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links