Variant report

Variant	rs12773740
Chromosome Location	chr10:91545006-91545007
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 199 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:196)

rs_ID	r²[population]
rs10082422	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10430622	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10430645	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10430646	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10430647	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1048057	0.88[EUR][1000 genomes]
rs10509579	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1062465	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10785893	0.83[EUR][1000 genomes]
rs10785894	0.83[EUR][1000 genomes]
rs10785895	0.83[EUR][1000 genomes]
rs10785896	0.83[EUR][1000 genomes]
rs10785899	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10785901	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10785902	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10881615	0.83[EUR][1000 genomes]
rs10881616	0.83[EUR][1000 genomes]
rs10881617	0.81[EUR][1000 genomes]
rs10881618	0.83[EUR][1000 genomes]
rs10881619	0.83[EUR][1000 genomes]
rs10881621	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10881623	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10881626	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10881627	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10881628	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10881629	0.87[EUR][1000 genomes]
rs10881630	0.91[EUR][1000 genomes]
rs10881631	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10881632	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10881633	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10881634	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10881635	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10881636	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10881637	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10881638	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10881639	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10881640	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10881643	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10881644	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10881646	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10881647	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10881648	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10881649	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10881650	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10881651	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10881652	0.89[EUR][1000 genomes]
rs10881653	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10881654	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10881655	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10881656	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10881657	0.87[EUR][1000 genomes]
rs10881658	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10881659	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10881660	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10881662	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10881663	0.86[EUR][1000 genomes]
rs10881664	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10881665	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10881666	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10881667	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10881668	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10881669	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10881670	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10881671	0.83[EUR][1000 genomes]
rs10982	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11185825	0.87[ASN][1000 genomes]
rs11185830	0.83[EUR][1000 genomes]
rs11185831	0.82[EUR][1000 genomes]
rs11185833	0.83[EUR][1000 genomes]
rs11185851	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11185852	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11185853	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11185855	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11185858	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11185861	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11185864	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11185867	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11185870	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11185878	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11185879	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11185880	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11185881	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11185884	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11185886	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11185889	0.84[EUR][1000 genomes]
rs11185892	0.84[EUR][1000 genomes]
rs1126480	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11813204	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11813214	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11816741	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12218194	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12243552	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12247868	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12248156	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12249500	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12250365	0.91[EUR][1000 genomes]
rs12253793	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12254296	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12256229	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12264026	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12264044	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12763178	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12767644	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12773865	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12776628	0.86[EUR][1000 genomes]
rs12779880	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12948	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1409358	0.83[EUR][1000 genomes]
rs1555868	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17125278	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1886997	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1886998	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1887037	0.82[EUR][1000 genomes]
rs2017527	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2026549	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2026550	0.88[EUR][1000 genomes]
rs2026551	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2077946	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2094212	0.83[EUR][1000 genomes]
rs2094213	0.83[EUR][1000 genomes]
rs2182396	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2418928	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34089128	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34135002	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35754486	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35929113	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs36190073	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3740036	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3740037	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3758384	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3758385	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3758389	0.91[EUR][1000 genomes]
rs3824609	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3908479	0.83[EUR][1000 genomes]
rs4126596	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4558081	0.83[EUR][1000 genomes]
rs55772495	0.82[EUR][1000 genomes]
rs56664691	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61481124	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61870788	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61872460	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6586217	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6586218	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7070916	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7073779	0.83[EUR][1000 genomes]
rs7074093	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7074112	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7074290	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7076259	0.82[EUR][1000 genomes]
rs7077349	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7081362	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7085805	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7087240	0.83[EUR][1000 genomes]
rs7087789	0.85[ASN][1000 genomes]
rs7088104	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7088570	0.83[EUR][1000 genomes]
rs7089108	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7089326	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7089473	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7090618	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7092444	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7094633	0.83[EUR][1000 genomes]
rs7095702	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7095818	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7096466	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7096826	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7097496	0.83[EUR][1000 genomes]
rs7100603	0.83[EUR][1000 genomes]
rs716781	0.82[EUR][1000 genomes]
rs735936	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7893678	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7895001	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7895379	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7896461	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7898670	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7899264	0.91[EUR][1000 genomes]
rs7901438	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7902655	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7902875	0.82[EUR][1000 genomes]
rs7904847	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7906112	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7909550	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7910001	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7912347	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7912464	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7914590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7919866	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7921817	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8181361	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8181406	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9325443	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9325444	0.81[EUR][1000 genomes]
rs943129	0.83[EUR][1000 genomes]
rs962524	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9663129	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs980520	0.82[AMR][1000 genomes];0.91[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	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
2	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
3	nsv1036581	chr10:91526705-91691536	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12773740	RP11-248C1.3	cis	Artery Tibial	GTEx
rs12773740	LINC00865	cis	Nerve Tibial	GTEx
rs12773740	LINC00865	cis	Artery Tibial	GTEx

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91461600-91546600	Weak transcription	Small Intestine	intestine
2	chr10:91506400-91549000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:91506600-91554200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr10:91523000-91549400	Weak transcription	Adipose Nuclei	Adipose
5	chr10:91523400-91549000	Weak transcription	K562	blood
6	chr10:91529600-91549000	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr10:91533200-91554400	Weak transcription	NHEK	skin
8	chr10:91540600-91546600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr10:91540600-91554200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr10:91540800-91545200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr10:91540800-91549600	Weak transcription	Lung	lung
12	chr10:91540800-91554000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr10:91541000-91548800	Weak transcription	Dnd41	blood
14	chr10:91541000-91549000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr10:91541200-91549000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr10:91541200-91549200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr10:91541200-91552000	Weak transcription	HMEC	breast
18	chr10:91541200-91554800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr10:91541400-91546200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr10:91541400-91546600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr10:91541400-91547800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr10:91541400-91548800	Weak transcription	Primary T cells from cord blood	blood
23	chr10:91541400-91549000	Weak transcription	Fetal Thymus	thymus
24	chr10:91541400-91549200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr10:91541400-91550200	Weak transcription	Fetal Intestine Small	intestine
26	chr10:91541400-91560000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr10:91541600-91549000	Weak transcription	Thymus	Thymus
28	chr10:91541600-91552200	Weak transcription	Hela-S3	cervix
29	chr10:91541600-91554000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr10:91542600-91554000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr10:91544400-91549000	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr10:91544600-91554000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr10:91545000-91545200	Enhancers	Aorta	Aorta

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