Variant report

Variant	rs11752791
Chromosome Location	chr6:109885646-109885647
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 135 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:129)

rs_ID	r²[population]
rs10457192	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10457194	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10457195	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10457203	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1046943	0.88[CEU][hapmap]
rs1048203	0.86[CHB][hapmap]
rs10499053	0.90[CHB][hapmap];0.82[JPT][hapmap];0.92[ASN][1000 genomes]
rs10782162	0.95[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs10782163	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10872034	0.88[ASN][1000 genomes]
rs11153183	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11153188	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11153213	1.00[CEU][hapmap];0.94[CHB][hapmap];0.81[YRI][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11153215	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[EUR][1000 genomes]
rs11251	0.92[CEU][hapmap];0.86[JPT][hapmap]
rs11754340	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11754455	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11755641	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11758651	0.85[AMR][1000 genomes]
rs12190372	0.80[CEU][hapmap];0.81[CHB][hapmap]
rs12190920	0.90[CHB][hapmap]
rs12191353	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12192268	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12192776	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12193719	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12194061	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12194157	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12195904	0.83[EUR][1000 genomes]
rs12197114	0.86[CHB][hapmap]
rs12197180	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12197838	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12197950	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12198938	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12199154	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12201356	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12201444	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[EUR][1000 genomes]
rs12204548	1.00[CEU][hapmap];0.85[CHB][hapmap];0.81[YRI][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12205140	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12205485	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12208018	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12208933	0.95[CHB][hapmap];0.88[JPT][hapmap];0.94[ASN][1000 genomes]
rs12210706	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12212476	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12214639	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12215077	1.00[CEU][hapmap];0.85[CHB][hapmap];0.81[EUR][1000 genomes]
rs12524639	0.86[CHB][hapmap]
rs12528392	0.86[CHB][hapmap]
rs12528781	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13191066	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13199109	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13199135	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13201430	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13201947	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13201951	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13203587	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13204102	0.90[ASN][1000 genomes]
rs13204500	0.89[ASN][1000 genomes]
rs1321328	0.95[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs13220915	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1322124	1.00[CEU][hapmap];0.85[CHB][hapmap];0.81[EUR][1000 genomes]
rs1358998	0.86[CHB][hapmap]
rs1406899	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1476387	0.88[CEU][hapmap];0.86[JPT][hapmap]
rs1476388	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17070591	0.88[CEU][hapmap]
rs1923725	0.86[CHB][hapmap]
rs1960325	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1980591	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1998811	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2024849	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2024850	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2024852	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2024853	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2025147	0.80[CEU][hapmap];0.86[CHB][hapmap]
rs2025148	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2148089	0.87[ASN][1000 genomes]
rs2208209	0.94[ASN][1000 genomes]
rs2236084	0.88[CEU][hapmap]
rs2236582	0.86[CHB][hapmap]
rs2273752	1.00[CEU][hapmap];0.85[CHB][hapmap];0.81[EUR][1000 genomes]
rs2277113	0.88[CEU][hapmap];0.86[JPT][hapmap]
rs2277114	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2357124	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36131450	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3734652	0.88[CEU][hapmap]
rs3757234	0.86[CHB][hapmap]
rs3757235	0.88[CEU][hapmap]
rs3778474	0.92[CEU][hapmap];0.87[JPT][hapmap]
rs3799842	0.84[CEU][hapmap]
rs3799845	1.00[CEU][hapmap];0.95[CHB][hapmap];0.84[YRI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3799849	1.00[CEU][hapmap];0.90[CHB][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3899233	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4141930	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[EUR][1000 genomes]
rs4490694	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4945833	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4947016	0.81[EUR][1000 genomes]
rs6568592	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs68042406	0.88[ASN][1000 genomes]
rs6906216	0.90[ASN][1000 genomes]
rs6911700	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6914498	0.95[CHB][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs6916579	0.88[ASN][1000 genomes]
rs6920292	0.89[ASN][1000 genomes]
rs6920372	0.88[CEU][hapmap]
rs6926096	0.90[ASN][1000 genomes]
rs71541003	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs729888	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs730089	0.88[CEU][hapmap]
rs7341297	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs736830	0.88[CEU][hapmap]
rs749517	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs752262	0.86[CHB][hapmap]
rs7748669	0.92[CEU][hapmap];0.86[JPT][hapmap]
rs7754650	0.92[CEU][hapmap];0.86[JPT][hapmap]
rs7755941	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7767525	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7768973	0.88[CEU][hapmap]
rs7773095	0.86[CHB][hapmap]
rs7773950	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs910730	0.91[CEU][hapmap];0.81[JPT][hapmap]
rs9480947	0.88[CEU][hapmap]
rs9480948	0.86[CHB][hapmap]
rs9480956	0.88[CEU][hapmap]
rs9480957	0.86[CHB][hapmap]
rs9487100	0.86[CHB][hapmap]
rs9487103	0.87[CEU][hapmap]
rs971434	0.95[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs974034	0.88[CEU][hapmap]
rs9791241	0.88[CEU][hapmap]

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	nsv1026012	chr6:109851638-109999379	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv604484	chr6:109851937-109997529	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1019389	chr6:109868058-109987502	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv538416	chr6:109868058-109987502	Genic enhancers ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv7953	chr6:109885153-109893563	Strong transcription Weak transcription	n/a	n/a	inside rSNPs	diseases
6	nsv917318	chr6:109885195-109982375	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11752791	C6orf199	Cis_1M	lymphoblastoid	RTeQTL
rs11752791	SMPD2	cis	Whole Blood	GTEx
rs11752791	RP11-425D10.10	cis	Skin Sun Exposed Lower leg	GTEx
rs11752791	RP11-425D10.10	cis	Esophagus Mucosa	GTEx
rs11752791	ZBTB24	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:109867000-109885800	Weak transcription	Ovary	ovary
2	chr6:109878400-109886200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr6:109878800-109894000	Weak transcription	Pancreas	Pancrea
4	chr6:109878800-109903600	Weak transcription	Psoas Muscle	Psoas
5	chr6:109879000-109903800	Weak transcription	Thymus	Thymus
6	chr6:109879000-109906000	Weak transcription	Left Ventricle	heart
7	chr6:109879000-109917400	Weak transcription	Aorta	Aorta
8	chr6:109879400-109893400	Weak transcription	Primary T cells from cord blood	blood
9	chr6:109879600-109886400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr6:109879800-109900600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr6:109880800-109900000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr6:109881000-109900000	Weak transcription	Adipose Nuclei	Adipose
13	chr6:109881200-109902400	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr6:109883400-109886200	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr6:109884000-109886200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr6:109885000-109886000	Strong transcription	Primary B cells from cord blood	blood
17	chr6:109885000-109886600	Weak transcription	Primary B cells from peripheral blood	blood
18	chr6:109885000-109902400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr6:109885200-109900200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr6:109885600-109887800	Weak transcription	Primary T helper cells PMA-I stimulated	--

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