Variant report

Variant	rs10192067
Chromosome Location	chr2:187384177-187384178
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 116 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs10172511	0.81[EUR][1000 genomes]
rs10172850	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10189971	0.81[EUR][1000 genomes]
rs10193268	0.81[EUR][1000 genomes]
rs10196208	0.82[EUR][1000 genomes]
rs10205506	0.81[EUR][1000 genomes]
rs10205705	0.80[EUR][1000 genomes]
rs10210844	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1026118	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.81[EUR][1000 genomes]
rs10931239	0.81[EUR][1000 genomes]
rs10931242	0.81[EUR][1000 genomes]
rs10931245	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11673938	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11676936	0.80[EUR][1000 genomes]
rs11683595	0.81[EUR][1000 genomes]
rs11889909	0.81[EUR][1000 genomes]
rs12473076	0.95[JPT][hapmap]
rs12475522	0.82[EUR][1000 genomes]
rs12611673	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12619990	0.81[EUR][1000 genomes]
rs12693447	0.81[EUR][1000 genomes]
rs12693449	0.81[EUR][1000 genomes]
rs12693451	0.81[EUR][1000 genomes]
rs12993773	0.95[JPT][hapmap]
rs12997583	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs12999247	0.95[JPT][hapmap]
rs13018154	0.87[ASN][1000 genomes]
rs13025505	0.95[JPT][hapmap]
rs1349154	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.81[EUR][1000 genomes]
rs1375321	0.81[EUR][1000 genomes]
rs1375324	0.81[EUR][1000 genomes]
rs1375325	0.81[EUR][1000 genomes]
rs1375326	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1448851	0.81[EUR][1000 genomes]
rs1448852	0.81[EUR][1000 genomes]
rs1448854	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs1448860	0.81[EUR][1000 genomes]
rs1448861	0.81[EUR][1000 genomes]
rs1448863	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1451874	0.95[JPT][hapmap]
rs1470230	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1562646	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.81[EUR][1000 genomes]
rs1562647	0.81[EUR][1000 genomes]
rs1900835	0.80[EUR][1000 genomes]
rs1975594	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1992930	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2044919	1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2119865	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2197816	0.81[EUR][1000 genomes]
rs2305409	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2370691	0.81[EUR][1000 genomes]
rs2370692	0.81[EUR][1000 genomes]
rs3768775	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3768776	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4144785	0.91[JPT][hapmap]
rs4144786	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4144822	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4144824	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4666701	0.81[EUR][1000 genomes]
rs4666704	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4666705	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4667081	0.81[EUR][1000 genomes]
rs4667086	0.81[EUR][1000 genomes]
rs4667089	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4667091	0.85[AMR][1000 genomes]
rs4667093	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4667094	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4667097	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4667098	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4667099	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4667100	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4667101	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4667102	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4667103	0.87[ASN][1000 genomes]
rs56044376	0.84[AMR][1000 genomes]
rs6434171	0.81[EUR][1000 genomes]
rs6434177	0.93[CEU][hapmap];0.81[YRI][hapmap];0.82[EUR][1000 genomes]
rs6434179	0.95[JPT][hapmap]
rs6434181	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6434182	0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs6434183	0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs6434184	0.86[ASN][1000 genomes]
rs6712627	0.95[JPT][hapmap]
rs6717081	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6717965	0.81[EUR][1000 genomes]
rs6732188	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6732449	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6734700	0.87[ASN][1000 genomes]
rs6740632	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6741184	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6745873	0.80[EUR][1000 genomes]
rs6747289	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6749314	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6752407	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6759502	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7556814	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7562659	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7568700	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7569642	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7570883	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7576323	0.87[ASN][1000 genomes]
rs7581081	0.81[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs7582052	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7586276	0.95[JPT][hapmap]
rs7586291	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7587410	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7595269	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7606494	0.81[EUR][1000 genomes]
rs7607162	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs980540	0.81[EUR][1000 genomes]
rs9807987	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs988110	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv459988	chr2:187364878-187440683	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv584031	chr2:187364878-187440683	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10192067	RP11-410E4.1	cis	Artery Tibial	GTEx

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187357600-187386200	Strong transcription	Dnd41	blood
2	chr2:187358600-187385800	Weak transcription	Esophagus	oesophagus
3	chr2:187359600-187386400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:187359800-187387200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:187360000-187386800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:187361200-187385600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:187361400-187389200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:187363000-187385600	Weak transcription	Aorta	Aorta
9	chr2:187363000-187387800	Weak transcription	Pancreas	Pancrea
10	chr2:187363000-187408800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:187363200-187397600	Weak transcription	Small Intestine	intestine
12	chr2:187367200-187385600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:187367200-187396800	Weak transcription	Gastric	stomach
14	chr2:187367200-187405800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:187370800-187385600	Weak transcription	Fetal Stomach	stomach
16	chr2:187370800-187385600	Weak transcription	Spleen	Spleen
17	chr2:187370800-187385800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:187370800-187385800	Weak transcription	Lung	lung
19	chr2:187370800-187386800	Weak transcription	Stomach Mucosa	stomach
20	chr2:187371000-187385800	Weak transcription	Thymus	Thymus
21	chr2:187371000-187389400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:187371000-187395800	Weak transcription	Fetal Heart	heart
23	chr2:187371000-187407800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr2:187371400-187385600	Weak transcription	Ovary	ovary
25	chr2:187372200-187390000	Weak transcription	Fetal Brain Male	brain
26	chr2:187373600-187385600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:187373600-187385600	Weak transcription	Fetal Muscle Leg	muscle
28	chr2:187373600-187388000	Weak transcription	Psoas Muscle	Psoas
29	chr2:187373600-187395800	Weak transcription	HSMMtube	muscle
30	chr2:187373600-187397600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr2:187373800-187385800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr2:187373800-187385800	Weak transcription	Left Ventricle	heart
33	chr2:187373800-187386000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr2:187373800-187387000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr2:187373800-187387800	Weak transcription	Right Ventricle	heart
36	chr2:187373800-187390200	Weak transcription	Brain Anterior Caudate	brain
37	chr2:187374000-187385800	Weak transcription	Fetal Brain Female	brain
38	chr2:187374000-187388600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr2:187374200-187386400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr2:187374200-187386600	Weak transcription	Colon Smooth Muscle	Colon
41	chr2:187374200-187386600	Weak transcription	Stomach Smooth Muscle	stomach
42	chr2:187374400-187386400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr2:187374400-187389800	Weak transcription	Brain Germinal Matrix	brain
44	chr2:187374400-187396200	Weak transcription	Brain Substantia Nigra	brain
45	chr2:187374400-187398800	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr2:187374600-187386000	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr2:187374800-187386000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr2:187374800-187387800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr2:187374800-187388400	Weak transcription	NHLF	lung
50	chr2:187375200-187387000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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