Variant report

Variant	rs10064711
Chromosome Location	chr5:43712982-43712983
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:43706278..43710005-chr5:43710732..43713947,4	K562	blood:
2	chr5:43708302..43711548-chr5:43712823..43716429,4	K562	blood:

Extended variants
information (count: 213 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:209)

rs_ID	r²[population]
rs10035353	0.82[ASN][1000 genomes]
rs10039531	0.85[ASN][1000 genomes]
rs10042852	1.00[ASN][1000 genomes]
rs10045029	0.85[ASN][1000 genomes]
rs10050726	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10054514	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10055374	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10058080	1.00[CEU][hapmap]
rs10058555	0.94[EUR][1000 genomes]
rs10059603	0.86[ASN][1000 genomes]
rs10059613	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10062920	0.93[ASN][1000 genomes]
rs10065107	0.85[ASN][1000 genomes]
rs10066806	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10068765	0.95[ASN][1000 genomes]
rs10069201	0.81[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs10069341	0.95[ASN][1000 genomes]
rs10071683	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10073552	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10077102	0.99[ASN][1000 genomes]
rs10077972	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10079935	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10155531	0.95[ASN][1000 genomes]
rs10461741	1.00[CEU][hapmap]
rs10461742	1.00[CEU][hapmap]
rs10461745	0.86[ASN][1000 genomes]
rs10461747	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10461748	0.93[ASN][1000 genomes]
rs10462054	1.00[CEU][hapmap]
rs10462055	0.82[EUR][1000 genomes]
rs10462056	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10462057	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10472386	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10472388	0.93[ASN][1000 genomes]
rs11737988	0.96[ASN][1000 genomes]
rs12332274	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12697461	0.85[ASN][1000 genomes]
rs12697462	0.85[ASN][1000 genomes]
rs13159393	0.82[EUR][1000 genomes]
rs13161149	1.00[CEU][hapmap]
rs13161165	0.85[ASN][1000 genomes]
rs13161298	1.00[CEU][hapmap]
rs13163981	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13165656	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13166593	1.00[CEU][hapmap]
rs13170672	0.85[EUR][1000 genomes]
rs13173365	0.89[ASN][1000 genomes]
rs13173498	0.85[EUR][1000 genomes]
rs13173726	0.82[EUR][1000 genomes]
rs13174983	0.84[ASN][1000 genomes]
rs13175037	0.82[EUR][1000 genomes]
rs13175688	1.00[CEU][hapmap]
rs13177107	1.00[CEU][hapmap]
rs13177579	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13178040	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13178059	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13179099	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13182721	0.93[ASN][1000 genomes]
rs13183124	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13183238	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13184712	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13187446	0.93[ASN][1000 genomes]
rs13187695	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13188640	1.00[CEU][hapmap]
rs13188683	1.00[CEU][hapmap]
rs13357293	0.85[ASN][1000 genomes]
rs13360905	0.82[YRI][hapmap]
rs13361045	0.93[ASN][1000 genomes]
rs16873404	1.00[CEU][hapmap]
rs16873421	1.00[CEU][hapmap]
rs16873433	1.00[CEU][hapmap]
rs16873454	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs16873455	0.85[EUR][1000 genomes]
rs16873466	0.85[EUR][1000 genomes]
rs16873471	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16873502	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2042950	1.00[CEU][hapmap]
rs2303732	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2303733	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28520030	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34003086	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34028586	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34079397	0.85[EUR][1000 genomes]
rs34132518	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34184759	0.93[ASN][1000 genomes]
rs34289650	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34315545	0.85[ASN][1000 genomes]
rs34325384	0.95[ASN][1000 genomes]
rs34361701	0.85[EUR][1000 genomes]
rs34361740	0.96[ASN][1000 genomes]
rs34378343	0.85[ASN][1000 genomes]
rs34420640	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34435369	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34571724	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34748969	0.85[ASN][1000 genomes]
rs34814715	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34844158	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34871596	0.82[ASN][1000 genomes]
rs34897533	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34902970	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35023467	0.90[ASN][1000 genomes]
rs35047682	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35072002	0.95[ASN][1000 genomes]
rs35141665	0.85[EUR][1000 genomes]
rs35151191	0.93[ASN][1000 genomes]
rs35228179	0.85[ASN][1000 genomes]
rs35249562	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35370110	0.85[EUR][1000 genomes]
rs35383935	0.95[ASN][1000 genomes]
rs35388758	0.91[ASN][1000 genomes]
rs35429460	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35442919	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35580004	0.82[ASN][1000 genomes]
rs35592802	0.85[ASN][1000 genomes]
rs35606071	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35609488	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35663171	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35672591	0.93[ASN][1000 genomes]
rs35687864	0.85[ASN][1000 genomes]
rs35696038	0.88[ASN][1000 genomes]
rs35697559	0.91[ASN][1000 genomes]
rs35773128	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35818459	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35842681	0.93[ASN][1000 genomes]
rs35867146	0.95[ASN][1000 genomes]
rs35955731	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3764980	1.00[CEU][hapmap]
rs3792917	1.00[CEU][hapmap]
rs3792921	1.00[CEU][hapmap]
rs3805720	1.00[CEU][hapmap]
rs3805721	1.00[CEU][hapmap]
rs3828695	1.00[CEU][hapmap]
rs3828696	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3884574	0.85[ASN][1000 genomes]
rs3884575	0.85[ASN][1000 genomes]
rs4318792	0.85[ASN][1000 genomes]
rs4380668	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4382179	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4403180	0.93[ASN][1000 genomes]
rs4449542	0.85[ASN][1000 genomes]
rs4476731	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4484444	0.85[ASN][1000 genomes]
rs4493678	0.93[ASN][1000 genomes]
rs62367653	0.85[EUR][1000 genomes]
rs62367658	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62368561	0.85[EUR][1000 genomes]
rs62368564	0.85[EUR][1000 genomes]
rs62368567	0.85[EUR][1000 genomes]
rs62368570	0.82[EUR][1000 genomes]
rs62368571	0.85[EUR][1000 genomes]
rs62368574	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62368575	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62368577	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62368578	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62368581	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62368584	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62368632	0.93[ASN][1000 genomes]
rs62368636	0.91[EUR][1000 genomes]
rs62368637	0.91[EUR][1000 genomes]
rs62368638	0.86[ASN][1000 genomes]
rs62368640	0.90[ASN][1000 genomes]
rs62368641	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62368655	0.93[ASN][1000 genomes]
rs62368656	0.82[EUR][1000 genomes]
rs62369476	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62369480	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62369481	0.82[EUR][1000 genomes]
rs6451719	1.00[CEU][hapmap]
rs6451722	0.83[ASN][1000 genomes]
rs6862487	1.00[CEU][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6863699	0.96[ASN][1000 genomes]
rs6868008	0.83[ASN][1000 genomes]
rs6868763	1.00[CEU][hapmap]
rs6869748	0.88[ASN][1000 genomes]
rs6871373	0.89[JPT][hapmap]
rs6872959	0.95[ASN][1000 genomes]
rs6874033	0.93[ASN][1000 genomes]
rs6875118	0.93[ASN][1000 genomes]
rs6875365	0.85[ASN][1000 genomes]
rs6875400	0.85[ASN][1000 genomes]
rs6878821	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6892300	0.93[ASN][1000 genomes]
rs6895383	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6897045	0.88[ASN][1000 genomes]
rs6897559	0.85[ASN][1000 genomes]
rs71629187	0.85[EUR][1000 genomes]
rs71629189	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71629192	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71629193	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs716960	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73753626	0.89[ASN][1000 genomes]
rs73753650	0.85[ASN][1000 genomes]
rs73753651	0.85[ASN][1000 genomes]
rs73753652	0.85[ASN][1000 genomes]
rs7708386	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7711370	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7713661	0.87[ASN][1000 genomes]
rs7713856	0.85[ASN][1000 genomes]
rs7716562	1.00[CEU][hapmap]
rs7717645	0.86[ASN][1000 genomes]
rs7721405	0.85[ASN][1000 genomes]
rs7723874	0.88[ASN][1000 genomes]
rs7724195	0.85[ASN][1000 genomes]
rs7725789	0.93[ASN][1000 genomes]
rs7733259	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9292896	0.85[ASN][1000 genomes]
rs9686857	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9784611	0.88[ASN][1000 genomes]
rs9918185	0.88[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	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv881108	chr5:43527432-43800333	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	esv3471542	chr5:43665651-43824536	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	esv3471543	chr5:43665767-43824443	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10064711	RP11-159F24.1	cis	Thyroid	GTEx

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43680800-43715400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:43684200-43715400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr5:43684800-43714600	Weak transcription	Aorta	Aorta
4	chr5:43697000-43715000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr5:43704800-43715200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr5:43705000-43715600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr5:43705600-43713000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr5:43706000-43716600	Weak transcription	Primary T cells from cord blood	blood
9	chr5:43706000-43725000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:43706400-43713200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr5:43711800-43714400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:43711800-43714800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:43711800-43715600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:43711800-43715600	Weak transcription	HSMMtube	muscle
15	chr5:43712000-43714600	Weak transcription	Fetal Heart	heart
16	chr5:43712400-43715400	Weak transcription	HSMM	muscle
17	chr5:43712800-43713000	Enhancers	Fetal Lung	lung

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