Variant report

Variant	rs11794753
Chromosome Location	chr9:102968313-102968314
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:102963195..102965922-chr9:102967763..102971400,3	K562	blood:
2	chr9:102966427..102968883-chr9:103006907..103008626,2	K562	blood:
3	chr9:102963787..102966660-chr9:102967225..102969263,2	K562	blood:

Extended variants
information (count: 204 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:198)

rs_ID	r²[population]
rs10512269	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs10760719	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs10760721	0.92[EUR][1000 genomes]
rs10760722	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs10819718	1.00[ASN][1000 genomes]
rs10819721	0.89[CEU][hapmap]
rs10819725	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs10819726	0.88[CEU][hapmap];0.89[EUR][1000 genomes]
rs10819727	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs10819729	0.92[EUR][1000 genomes]
rs10819730	0.87[CEU][hapmap];0.92[EUR][1000 genomes]
rs10819731	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs10819732	0.88[CEU][hapmap];0.92[EUR][1000 genomes]
rs10819733	0.92[EUR][1000 genomes]
rs10819736	0.92[EUR][1000 genomes]
rs10819738	0.92[EUR][1000 genomes]
rs10819740	0.92[EUR][1000 genomes]
rs10819741	0.92[EUR][1000 genomes]
rs10819742	0.90[EUR][1000 genomes]
rs10819743	0.87[EUR][1000 genomes]
rs10819745	0.90[EUR][1000 genomes]
rs10819746	0.90[EUR][1000 genomes]
rs10819747	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs10819748	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs10819750	0.90[EUR][1000 genomes]
rs10819758	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10819760	1.00[ASN][1000 genomes]
rs10819765	1.00[ASN][1000 genomes]
rs10819766	1.00[ASN][1000 genomes]
rs10819768	1.00[ASN][1000 genomes]
rs10988967	0.89[CEU][hapmap]
rs10988977	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs10988978	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs10988979	0.89[EUR][1000 genomes]
rs10988980	0.88[EUR][1000 genomes]
rs10988981	0.87[EUR][1000 genomes]
rs10988982	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs10988983	0.89[EUR][1000 genomes]
rs10988984	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs10988988	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs10988989	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs10988992	0.92[EUR][1000 genomes]
rs10988993	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs10988994	0.88[CEU][hapmap];0.91[EUR][1000 genomes]
rs10988996	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs10989000	0.92[EUR][1000 genomes]
rs10989001	0.90[EUR][1000 genomes]
rs10989003	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs10989004	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs10989006	0.91[EUR][1000 genomes]
rs10989007	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs10989008	0.92[EUR][1000 genomes]
rs10989010	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs10989012	0.92[EUR][1000 genomes]
rs10989013	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs10989015	0.92[EUR][1000 genomes]
rs10989017	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs10989018	0.80[CEU][hapmap];0.92[EUR][1000 genomes]
rs10989019	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs10989020	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs10989024	0.87[EUR][1000 genomes]
rs10989025	0.90[EUR][1000 genomes]
rs10989026	0.90[EUR][1000 genomes]
rs10989027	0.90[EUR][1000 genomes]
rs10989030	0.90[EUR][1000 genomes]
rs10989047	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10989050	1.00[ASN][1000 genomes]
rs10989051	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10989062	1.00[ASN][1000 genomes]
rs10989063	1.00[ASN][1000 genomes]
rs10989068	1.00[ASN][1000 genomes]
rs10989069	1.00[ASN][1000 genomes]
rs10989072	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10989074	1.00[CHB][hapmap]
rs10989077	1.00[ASN][1000 genomes]
rs11496529	0.90[EUR][1000 genomes]
rs11496605	0.89[EUR][1000 genomes]
rs11496606	0.90[EUR][1000 genomes]
rs11515540	0.92[EUR][1000 genomes]
rs11788648	1.00[ASN][1000 genomes]
rs11789335	0.90[EUR][1000 genomes]
rs11789482	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs11790004	0.91[EUR][1000 genomes]
rs11791943	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11793448	0.92[EUR][1000 genomes]
rs11793726	1.00[ASN][1000 genomes]
rs11795004	1.00[ASN][1000 genomes]
rs11998890	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs11999915	0.92[EUR][1000 genomes]
rs12000731	0.90[EUR][1000 genomes]
rs12003061	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs12003124	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs12005177	1.00[ASN][1000 genomes]
rs12005926	0.92[EUR][1000 genomes]
rs12375636	0.92[EUR][1000 genomes]
rs12375859	1.00[ASN][1000 genomes]
rs12377746	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs12377835	0.92[EUR][1000 genomes]
rs12379327	0.92[EUR][1000 genomes]
rs12379480	1.00[ASN][1000 genomes]
rs12379553	0.92[EUR][1000 genomes]
rs12380652	0.89[EUR][1000 genomes]
rs12380809	0.92[EUR][1000 genomes]
rs1338120	0.92[EUR][1000 genomes]
rs1415927	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs1529195	0.89[CEU][hapmap]
rs16919002	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs16919015	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs16919019	0.92[EUR][1000 genomes]
rs2416986	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs3199998	1.00[ASN][1000 genomes]
rs34407295	0.92[EUR][1000 genomes]
rs41274951	1.00[ASN][1000 genomes]
rs41274961	1.00[ASN][1000 genomes]
rs56840267	0.92[EUR][1000 genomes]
rs57069181	0.92[EUR][1000 genomes]
rs57397295	0.92[EUR][1000 genomes]
rs57734783	0.92[EUR][1000 genomes]
rs58197960	0.92[EUR][1000 genomes]
rs58630229	0.92[EUR][1000 genomes]
rs58948789	0.92[EUR][1000 genomes]
rs60181536	0.81[EUR][1000 genomes]
rs62579387	1.00[ASN][1000 genomes]
rs6479004	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs6479005	0.92[EUR][1000 genomes]
rs6479006	0.92[EUR][1000 genomes]
rs7018703	0.89[EUR][1000 genomes]
rs7020780	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs7021923	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs7023412	0.92[EUR][1000 genomes]
rs7025271	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs7025412	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs7026567	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs7028101	1.00[ASN][1000 genomes]
rs7028564	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs7028699	0.92[EUR][1000 genomes]
rs7029342	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7029981	0.92[EUR][1000 genomes]
rs7031081	0.83[EUR][1000 genomes]
rs7033350	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs7033459	0.90[EUR][1000 genomes]
rs7035379	0.92[EUR][1000 genomes]
rs7036972	1.00[ASN][1000 genomes]
rs7037122	1.00[ASN][1000 genomes]
rs7037419	1.00[ASN][1000 genomes]
rs7041818	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs7047193	0.88[CEU][hapmap];0.89[EUR][1000 genomes]
rs7047311	0.90[EUR][1000 genomes]
rs7047693	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs7047728	0.92[EUR][1000 genomes]
rs73491426	0.86[EUR][1000 genomes]
rs73491437	0.91[EUR][1000 genomes]
rs73491439	0.91[EUR][1000 genomes]
rs73491441	0.91[EUR][1000 genomes]
rs73491444	0.92[EUR][1000 genomes]
rs73491451	0.92[EUR][1000 genomes]
rs73491452	0.92[EUR][1000 genomes]
rs73491461	0.90[EUR][1000 genomes]
rs73491475	0.90[EUR][1000 genomes]
rs7350268	0.85[CEU][hapmap];0.92[EUR][1000 genomes]
rs73505783	0.89[EUR][1000 genomes]
rs73505786	0.92[EUR][1000 genomes]
rs73505791	0.92[EUR][1000 genomes]
rs73507822	0.87[EUR][1000 genomes]
rs73507831	0.92[EUR][1000 genomes]
rs73507832	0.92[EUR][1000 genomes]
rs7847149	0.88[EUR][1000 genomes]
rs7849019	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7849323	0.89[CEU][hapmap]
rs7853497	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs7853561	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs7853585	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs7853672	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs7854444	0.90[EUR][1000 genomes]
rs7854689	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs7856932	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs7857556	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs7858045	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs7858119	0.88[EUR][1000 genomes]
rs7858208	0.88[EUR][1000 genomes]
rs7859524	0.92[EUR][1000 genomes]
rs7860268	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs7860660	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs7862614	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs7865483	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs7866669	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs7866950	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs7868020	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs7868446	0.89[CEU][hapmap]
rs7868632	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs7870469	0.89[CEU][hapmap]
rs7870701	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs7872014	0.92[EUR][1000 genomes]
rs7872897	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs7873560	1.00[ASN][1000 genomes]
rs7874036	1.00[ASN][1000 genomes]
rs9695680	0.90[EUR][1000 genomes]
rs9696818	0.94[EUR][1000 genomes]

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	nsv529618	chr9:102227922-103044018	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv531599	chr9:102227922-103156864	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv893623	chr9:102648036-103405197	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv1048674	chr9:102752236-103038259	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1052007	chr9:102766948-103033937	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	esv3366028	chr9:102947446-102973079	Active TSS Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11794753	INVS	cis	Thyroid	GTEx

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102940400-102978000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr9:102953000-102976800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr9:102953800-102977600	Weak transcription	Fetal Stomach	stomach
4	chr9:102954600-102972200	Weak transcription	Primary B cells from cord blood	blood
5	chr9:102954600-102978000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr9:102954800-102968600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr9:102954800-102972000	Weak transcription	Left Ventricle	heart
8	chr9:102955000-102988400	Weak transcription	Dnd41	blood
9	chr9:102955200-102999600	Weak transcription	Lung	lung
10	chr9:102956000-102972000	Weak transcription	GM12878-XiMat	blood
11	chr9:102956200-102983400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr9:102957200-102973200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr9:102957400-102977800	Weak transcription	Aorta	Aorta
14	chr9:102958800-103014400	Weak transcription	Hela-S3	cervix
15	chr9:102959000-102984400	Weak transcription	HepG2	liver
16	chr9:102959800-102977600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr9:102959800-102977600	Weak transcription	Ovary	ovary
18	chr9:102959800-102994600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr9:102960800-102978000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr9:102961400-102972000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr9:102962000-102989200	Weak transcription	Fetal Lung	lung
22	chr9:102964800-102988400	Weak transcription	Fetal Intestine Large	intestine
23	chr9:102965400-102976400	Weak transcription	Fetal Heart	heart
24	chr9:102966600-102972000	Weak transcription	Primary T cells from cord blood	blood
25	chr9:102967200-102969600	Enhancers	HUVEC	blood vessel
26	chr9:102967400-102968400	Weak transcription	Small Intestine	intestine
27	chr9:102967600-102972200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr9:102967600-102975600	Weak transcription	HSMM	muscle
29	chr9:102967600-102977800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr9:102967600-102978400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr9:102967600-102988600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr9:102967800-102969000	Weak transcription	NH-A	brain
33	chr9:102967800-102972000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr9:102968200-102969400	Enhancers	NHDF-Ad	bronchial

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