Variant report

Variant	rs2791336
Chromosome Location	chr9:102739446-102739447
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:102732323..102735122-chr9:102737535..102739450,2	MCF-7	breast:
2	chr9:102732471..102736606-chr9:102738514..102741531,4	K562	blood:

Extended variants
information (count: 185 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:180)

rs_ID	r²[population]
rs10116798	0.89[ASN][1000 genomes]
rs10117150	0.89[ASN][1000 genomes]
rs10117828	0.88[YRI][hapmap]
rs10120103	0.87[YRI][hapmap]
rs10121601	0.88[YRI][hapmap]
rs10121880	0.87[YRI][hapmap]
rs10123261	0.87[YRI][hapmap]
rs1014651	0.89[ASN][1000 genomes]
rs1014652	0.86[ASN][1000 genomes]
rs10156395	0.86[ASN][1000 genomes]
rs10217337	0.88[YRI][hapmap]
rs10217692	0.87[YRI][hapmap]
rs10739795	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10739796	0.87[ASN][1000 genomes]
rs10760706	0.83[YRI][hapmap]
rs10760710	0.96[ASN][1000 genomes]
rs10760711	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10760712	0.96[ASN][1000 genomes]
rs10760720	0.89[ASN][1000 genomes]
rs10819714	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10819715	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10819716	0.96[ASN][1000 genomes]
rs10819717	0.96[ASN][1000 genomes]
rs10819719	0.95[ASN][1000 genomes]
rs10819737	0.89[ASN][1000 genomes]
rs10819739	0.93[ASN][1000 genomes]
rs10988934	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10988945	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10988963	0.96[ASN][1000 genomes]
rs10988968	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10988969	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10988973	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10988974	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10989009	0.89[ASN][1000 genomes]
rs1099910	0.86[ASN][1000 genomes]
rs11555502	0.82[ASN][1000 genomes]
rs12336751	0.89[ASN][1000 genomes]
rs12552646	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.96[ASN][1000 genomes]
rs12685650	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13301295	0.89[ASN][1000 genomes]
rs1338119	0.86[ASN][1000 genomes]
rs1342147	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1361668	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1406613	0.96[ASN][1000 genomes]
rs1415926	0.87[ASN][1000 genomes]
rs1418267	0.96[ASN][1000 genomes]
rs1529191	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1529192	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1529193	0.96[ASN][1000 genomes]
rs1534726	0.82[JPT][hapmap];0.95[ASN][1000 genomes]
rs1535667	0.96[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.96[ASN][1000 genomes]
rs1539297	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.96[YRI][hapmap];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1572607	0.91[ASN][1000 genomes]
rs1578644	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1578645	0.96[ASN][1000 genomes]
rs1578646	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1830454	0.81[YRI][hapmap]
rs1852863	0.81[YRI][hapmap]
rs1852864	0.96[ASN][1000 genomes]
rs1852865	0.96[ASN][1000 genomes]
rs1891334	0.88[ASN][1000 genomes]
rs1999877	0.89[ASN][1000 genomes]
rs2031035	0.86[YRI][hapmap]
rs2057476	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.96[ASN][1000 genomes]
rs2093696	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2096158	0.96[ASN][1000 genomes]
rs2104273	0.96[ASN][1000 genomes]
rs2181579	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[YRI][hapmap];0.96[ASN][1000 genomes]
rs2209082	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2416935	0.83[YRI][hapmap]
rs2416936	0.88[YRI][hapmap]
rs2416937	0.88[YRI][hapmap]
rs2416940	0.88[YRI][hapmap]
rs2476439	0.93[ASN][1000 genomes]
rs2476441	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2476442	0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs2491095	0.86[ASN][1000 genomes]
rs2491096	0.86[ASN][1000 genomes]
rs2698999	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2761053	0.93[ASN][1000 genomes]
rs2761056	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2787361	0.82[JPT][hapmap];0.93[ASN][1000 genomes]
rs2787363	0.84[ASN][1000 genomes]
rs2787364	0.87[ASN][1000 genomes]
rs2787365	0.86[ASN][1000 genomes]
rs2787366	0.82[JPT][hapmap];0.93[ASN][1000 genomes]
rs2791335	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2791337	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2795575	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];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2806681	0.87[ASN][1000 genomes]
rs2806682	0.86[ASN][1000 genomes]
rs2806683	0.84[ASN][1000 genomes]
rs2806684	0.87[ASN][1000 genomes]
rs28448789	0.96[ASN][1000 genomes]
rs35493819	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3824510	0.86[ASN][1000 genomes]
rs41346545	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4282626	0.88[YRI][hapmap]
rs4452862	0.87[YRI][hapmap]
rs4495492	0.93[ASN][1000 genomes]
rs4503155	0.96[ASN][1000 genomes]
rs4517187	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.96[YRI][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4585797	0.88[YRI][hapmap]
rs4742777	0.87[YRI][hapmap]
rs4742778	0.87[YRI][hapmap]
rs4742779	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4743370	0.88[YRI][hapmap]
rs4743375	0.96[ASN][1000 genomes]
rs4743376	0.96[ASN][1000 genomes]
rs4743378	0.86[ASN][1000 genomes]
rs4743379	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4743380	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4743381	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4743382	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4743384	0.88[ASN][1000 genomes]
rs4743386	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6478991	0.96[ASN][1000 genomes]
rs6478994	0.96[ASN][1000 genomes]
rs6478995	0.96[ASN][1000 genomes]
rs6478996	0.96[ASN][1000 genomes]
rs6478997	0.96[ASN][1000 genomes]
rs6478998	0.96[ASN][1000 genomes]
rs6479000	0.96[ASN][1000 genomes]
rs6479001	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6479002	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7018981	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7022493	0.96[ASN][1000 genomes]
rs7024016	0.96[ASN][1000 genomes]
rs7025300	0.96[ASN][1000 genomes]
rs7026532	0.96[ASN][1000 genomes]
rs7027414	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7027619	0.88[YRI][hapmap]
rs7029020	0.96[ASN][1000 genomes]
rs7029048	0.96[ASN][1000 genomes]
rs7032333	0.96[ASN][1000 genomes]
rs7033091	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7036518	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7037362	0.96[ASN][1000 genomes]
rs7039716	0.84[YRI][hapmap]
rs7041338	0.96[ASN][1000 genomes]
rs7042194	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7042912	0.96[ASN][1000 genomes]
rs7043057	0.96[ASN][1000 genomes]
rs7044219	0.96[ASN][1000 genomes]
rs7045612	0.86[ASN][1000 genomes]
rs7047092	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7846794	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7847213	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7853485	0.95[ASN][1000 genomes]
rs7856844	0.93[ASN][1000 genomes]
rs7857530	0.96[ASN][1000 genomes]
rs7858606	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7859492	0.87[ASN][1000 genomes]
rs7861003	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7862460	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7870585	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7873746	0.85[JPT][hapmap]
rs7874449	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs846752	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs846753	0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs846754	0.96[ASN][1000 genomes]
rs846755	0.98[ASN][1000 genomes]
rs846756	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs846758	0.93[ASN][1000 genomes]
rs846759	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs846761	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs846762	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[YRI][hapmap];0.98[ASN][1000 genomes]
rs846763	0.86[ASN][1000 genomes]
rs846766	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs846768	0.89[ASN][1000 genomes]
rs846769	0.89[ASN][1000 genomes]
rs846770	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs860171	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs863668	0.93[ASN][1000 genomes]
rs9299335	0.88[YRI][hapmap]
rs9408995	0.84[ASN][1000 genomes]
rs942163	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9556	0.83[YRI][hapmap]
rs9695692	0.89[ASN][1000 genomes]
rs9886877	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv831668	chr9:102568169-102747293	Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	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
5	nsv1050510	chr9:102684318-102748658	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2791336	STX17	cis	Esophagus Mucosa	GTEx

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102682600-102751400	Weak transcription	NH-A	brain
2	chr9:102686400-102750800	Weak transcription	Esophagus	oesophagus
3	chr9:102686600-102750800	Weak transcription	Gastric	stomach
4	chr9:102699800-102739800	Weak transcription	K562	blood
5	chr9:102699800-102765800	Weak transcription	Psoas Muscle	Psoas
6	chr9:102701000-102751000	Weak transcription	Fetal Intestine Small	intestine
7	chr9:102705000-102751200	Weak transcription	Brain Angular Gyrus	brain
8	chr9:102708400-102744000	Weak transcription	NHDF-Ad	bronchial
9	chr9:102711400-102765800	Weak transcription	Right Ventricle	heart
10	chr9:102711400-102769200	Weak transcription	Osteobl	bone
11	chr9:102711800-102749000	Weak transcription	Brain Germinal Matrix	brain
12	chr9:102712200-102765600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr9:102712400-102751000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr9:102713200-102765600	Weak transcription	HSMMtube	muscle
15	chr9:102714200-102749200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr9:102718000-102777600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr9:102718800-102751000	Weak transcription	Pancreas	Pancrea
18	chr9:102719000-102765400	Weak transcription	HepG2	liver
19	chr9:102720400-102746400	Weak transcription	Spleen	Spleen
20	chr9:102721600-102739600	Weak transcription	Fetal Brain Female	brain
21	chr9:102722400-102751000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr9:102724000-102751600	Weak transcription	Fetal Brain Male	brain
23	chr9:102724000-102751800	Weak transcription	Fetal Kidney	kidney
24	chr9:102725200-102741800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr9:102725400-102749000	Weak transcription	Brain Hippocampus Middle	brain
26	chr9:102727400-102750800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr9:102729400-102739800	Weak transcription	A549	lung
28	chr9:102729400-102764600	Weak transcription	HSMM	muscle
29	chr9:102729600-102765600	Weak transcription	NHEK	skin
30	chr9:102729600-102826800	Weak transcription	HMEC	breast
31	chr9:102730000-102751000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr9:102730200-102743000	Weak transcription	Fetal Heart	heart
33	chr9:102730200-102765600	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr9:102730600-102740600	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr9:102730600-102742000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr9:102730800-102741200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr9:102730800-102745000	Weak transcription	Hela-S3	cervix
38	chr9:102731000-102765600	Weak transcription	NHLF	lung
39	chr9:102731000-102778200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr9:102731400-102746400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr9:102731400-102750800	Weak transcription	Aorta	Aorta
42	chr9:102731400-102751000	Weak transcription	Thymus	Thymus
43	chr9:102731600-102744200	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr9:102731600-102751000	Weak transcription	Dnd41	blood
45	chr9:102731800-102751000	Weak transcription	Colonic Mucosa	Colon
46	chr9:102731800-102765600	Weak transcription	Small Intestine	intestine
47	chr9:102732000-102744400	Weak transcription	Primary B cells from peripheral blood	blood
48	chr9:102732000-102751200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr9:102732400-102739800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr9:102732400-102739800	Weak transcription	Fetal Thymus	thymus

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