Variant report

Variant	rs12767644
Chromosome Location	chr10:91522707-91522708
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 198 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:195)

rs_ID	r²[population]
rs10082422	0.88[EUR][1000 genomes]
rs10430622	0.88[EUR][1000 genomes]
rs10430645	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs10430646	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs10430647	0.88[EUR][1000 genomes]
rs1048057	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs10509579	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs1062465	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs10785893	0.81[EUR][1000 genomes]
rs10785894	0.81[EUR][1000 genomes]
rs10785895	0.81[EUR][1000 genomes]
rs10785896	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs10785899	0.88[EUR][1000 genomes]
rs10785901	0.88[EUR][1000 genomes]
rs10785902	0.90[EUR][1000 genomes]
rs10881614	0.94[CEU][hapmap]
rs10881615	0.81[EUR][1000 genomes]
rs10881616	0.81[EUR][1000 genomes]
rs10881618	0.94[CEU][hapmap];0.81[EUR][1000 genomes]
rs10881619	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs10881621	0.81[EUR][1000 genomes]
rs10881623	0.81[EUR][1000 genomes]
rs10881626	0.88[EUR][1000 genomes]
rs10881627	0.86[EUR][1000 genomes]
rs10881628	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs10881629	0.94[CEU][hapmap];0.84[EUR][1000 genomes]
rs10881630	0.88[EUR][1000 genomes]
rs10881631	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs10881632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10881633	0.88[EUR][1000 genomes]
rs10881634	0.88[EUR][1000 genomes]
rs10881635	0.88[EUR][1000 genomes]
rs10881636	0.88[EUR][1000 genomes]
rs10881637	0.88[EUR][1000 genomes]
rs10881638	0.88[EUR][1000 genomes]
rs10881639	0.88[EUR][1000 genomes]
rs10881640	0.88[EUR][1000 genomes]
rs10881643	0.88[EUR][1000 genomes]
rs10881644	0.88[EUR][1000 genomes]
rs10881646	0.86[CEU][hapmap];0.88[EUR][1000 genomes]
rs10881647	0.93[CEU][hapmap];0.88[EUR][1000 genomes]
rs10881648	0.89[EUR][1000 genomes]
rs10881649	0.90[EUR][1000 genomes]
rs10881650	0.86[EUR][1000 genomes]
rs10881651	0.90[EUR][1000 genomes]
rs10881652	0.87[EUR][1000 genomes]
rs10881653	0.91[EUR][1000 genomes]
rs10881654	0.90[EUR][1000 genomes]
rs10881655	0.90[EUR][1000 genomes]
rs10881656	0.90[EUR][1000 genomes]
rs10881657	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10881658	0.90[EUR][1000 genomes]
rs10881659	0.90[EUR][1000 genomes]
rs10881660	0.90[EUR][1000 genomes]
rs10881662	0.90[EUR][1000 genomes]
rs10881663	0.85[EUR][1000 genomes]
rs10881664	0.94[CEU][hapmap];0.90[EUR][1000 genomes]
rs10881665	0.90[EUR][1000 genomes]
rs10881666	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs10881667	0.88[EUR][1000 genomes]
rs10881668	0.88[EUR][1000 genomes]
rs10881669	0.88[EUR][1000 genomes]
rs10881670	0.88[EUR][1000 genomes]
rs10982	0.88[EUR][1000 genomes]
rs11185825	0.94[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11185830	0.81[EUR][1000 genomes]
rs11185831	0.80[EUR][1000 genomes]
rs11185833	0.81[EUR][1000 genomes]
rs11185851	0.88[EUR][1000 genomes]
rs11185852	0.88[EUR][1000 genomes]
rs11185853	0.88[EUR][1000 genomes]
rs11185855	0.88[EUR][1000 genomes]
rs11185858	0.88[EUR][1000 genomes]
rs11185861	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs11185864	0.88[EUR][1000 genomes]
rs11185867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11185870	0.90[EUR][1000 genomes]
rs11185878	0.88[EUR][1000 genomes]
rs11185879	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11185880	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs11185881	0.88[EUR][1000 genomes]
rs11185884	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11185886	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11185889	0.86[EUR][1000 genomes]
rs1126480	0.90[EUR][1000 genomes]
rs11813204	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11813214	0.88[EUR][1000 genomes]
rs11814174	0.93[YRI][hapmap]
rs11816741	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12218194	0.81[EUR][1000 genomes]
rs12243552	0.88[EUR][1000 genomes]
rs12247868	0.90[EUR][1000 genomes]
rs12248156	0.88[EUR][1000 genomes]
rs12249500	0.90[EUR][1000 genomes]
rs12250365	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs12253793	0.88[EUR][1000 genomes]
rs12254296	0.88[EUR][1000 genomes]
rs12256229	0.87[EUR][1000 genomes]
rs12264026	0.88[EUR][1000 genomes]
rs12264044	0.89[EUR][1000 genomes]
rs12763178	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12773740	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12773865	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12776628	0.88[EUR][1000 genomes]
rs12779880	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12948	0.88[EUR][1000 genomes]
rs1409358	0.94[CEU][hapmap];0.81[EUR][1000 genomes]
rs1555868	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs17125278	0.94[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs1886997	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs1886998	0.88[EUR][1000 genomes]
rs2017527	0.90[EUR][1000 genomes]
rs2026549	0.90[EUR][1000 genomes]
rs2026550	0.94[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2026551	0.90[EUR][1000 genomes]
rs2077946	0.93[CEU][hapmap];0.90[EUR][1000 genomes]
rs2094212	0.81[EUR][1000 genomes]
rs2094213	0.81[EUR][1000 genomes]
rs2182396	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs2418928	0.88[EUR][1000 genomes]
rs34089128	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34135002	0.80[EUR][1000 genomes]
rs35339677	0.87[AFR][1000 genomes]
rs35754486	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35929113	0.88[EUR][1000 genomes]
rs36190073	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3740036	0.90[EUR][1000 genomes]
rs3740037	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs3758384	0.88[EUR][1000 genomes]
rs3758385	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs3758389	0.86[EUR][1000 genomes]
rs3824609	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs3908479	0.81[EUR][1000 genomes]
rs4126596	0.88[EUR][1000 genomes]
rs4558081	0.81[EUR][1000 genomes]
rs56664691	0.90[EUR][1000 genomes]
rs61481124	0.90[EUR][1000 genomes]
rs61870788	0.90[EUR][1000 genomes]
rs61872460	0.82[EUR][1000 genomes]
rs6586217	0.88[EUR][1000 genomes]
rs6586218	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs7070916	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7073779	0.81[EUR][1000 genomes]
rs7074093	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7074112	0.88[EUR][1000 genomes]
rs7074290	0.88[EUR][1000 genomes]
rs7076259	0.94[CEU][hapmap]
rs7077349	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs7081362	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs7085805	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs7087240	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs7087789	0.94[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs7088104	0.94[CEU][hapmap];0.81[EUR][1000 genomes]
rs7088570	0.81[EUR][1000 genomes]
rs7089108	0.88[EUR][1000 genomes]
rs7089326	0.88[EUR][1000 genomes]
rs7089473	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs7090618	0.88[EUR][1000 genomes]
rs7092444	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs7094633	0.81[EUR][1000 genomes]
rs7095702	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7095818	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs7096466	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs7096826	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7097496	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs7100603	0.94[CEU][hapmap];0.81[EUR][1000 genomes]
rs716781	0.88[CEU][hapmap]
rs727427	0.88[CEU][hapmap]
rs735936	0.83[EUR][1000 genomes]
rs7893678	0.88[EUR][1000 genomes]
rs7895001	0.88[EUR][1000 genomes]
rs7895379	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs7896461	0.88[EUR][1000 genomes]
rs7898670	0.94[CEU][hapmap];0.90[EUR][1000 genomes]
rs7899264	0.88[EUR][1000 genomes]
rs7901438	0.88[EUR][1000 genomes]
rs7902655	0.88[EUR][1000 genomes]
rs7904847	0.88[EUR][1000 genomes]
rs7906112	0.88[EUR][1000 genomes]
rs7907852	0.94[CEU][hapmap]
rs7909550	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs7910001	0.88[EUR][1000 genomes]
rs7912347	0.90[EUR][1000 genomes]
rs7912464	0.88[CEU][hapmap];0.90[EUR][1000 genomes]
rs7914590	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7919866	0.88[EUR][1000 genomes]
rs7921817	0.88[EUR][1000 genomes]
rs8181361	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs8181406	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9325443	0.94[CEU][hapmap];0.83[EUR][1000 genomes]
rs9325444	0.88[CEU][hapmap]
rs943129	0.81[EUR][1000 genomes]
rs962524	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs9663129	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs980520	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054572	chr10:91471956-91537070	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1046241	chr10:91478562-91614437	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv869080	chr10:91498641-91712834	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12767644	LINC00865	cis	Artery Tibial	GTEx
rs12767644	RP11-248C1.3	cis	Artery Tibial	GTEx
rs12767644	LINC00865	cis	Nerve Tibial	GTEx

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91461600-91546600	Weak transcription	Small Intestine	intestine
2	chr10:91467600-91538400	Weak transcription	Fetal Heart	heart
3	chr10:91469600-91523600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr10:91472600-91530200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr10:91474600-91530200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr10:91478400-91524200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr10:91478400-91542400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr10:91480800-91542200	Weak transcription	Fetal Kidney	kidney
9	chr10:91483200-91523600	Weak transcription	Brain Hippocampus Middle	brain
10	chr10:91485000-91532600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr10:91504200-91531800	Weak transcription	Colon Smooth Muscle	Colon
12	chr10:91504200-91544200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr10:91505000-91536600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr10:91506400-91531200	Weak transcription	Esophagus	oesophagus
15	chr10:91506400-91539800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr10:91506400-91541200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr10:91506400-91543800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr10:91506400-91544800	Weak transcription	Ovary	ovary
19	chr10:91506400-91549000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr10:91506600-91522800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr10:91506600-91540000	Weak transcription	Fetal Stomach	stomach
22	chr10:91506600-91540200	Weak transcription	Fetal Intestine Small	intestine
23	chr10:91506600-91540400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr10:91506600-91542000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr10:91506600-91543600	Weak transcription	Brain Germinal Matrix	brain
26	chr10:91506600-91554200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr10:91509600-91523600	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr10:91510200-91523600	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr10:91510400-91523600	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr10:91511400-91523600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr10:91513800-91538400	Weak transcription	Psoas Muscle	Psoas
32	chr10:91514000-91523000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr10:91514000-91523400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr10:91514000-91523600	Strong transcription	Dnd41	blood
35	chr10:91514000-91523600	Strong transcription	Hela-S3	cervix
36	chr10:91514200-91523600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr10:91514200-91523600	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr10:91515400-91523600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr10:91516200-91523600	Strong transcription	HSMM	muscle
40	chr10:91517400-91523600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr10:91517400-91536000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr10:91518000-91523400	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr10:91518000-91523400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr10:91518000-91523600	Strong transcription	NHDF-Ad	bronchial
45	chr10:91518200-91523400	Strong transcription	K562	blood
46	chr10:91518200-91523600	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr10:91518200-91523600	Strong transcription	Primary B cells from peripheral blood	blood
48	chr10:91518400-91523200	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr10:91518400-91523400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr10:91518400-91523400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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