Variant report

Variant	rs10760711
Chromosome Location	chr9:102766119-102766120
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:102766097-102766145	HepG2	liver:	n/a	n/a
2	POLR2A	chr9:102765708-102767027	K562	blood:	n/a	n/a
3	POLR2A	chr9:102765907-102766685	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:102725264..102726847-chr9:102764305..102766386,2	K562	blood:
2	chr9:102765208..102767665-chr9:102771829..102774715,3	MCF-7	breast:
3	chr9:102711128..102712717-chr9:102764359..102766420,2	MCF-7	breast:

Variant related genes	Relation type
UPF3AP3	TF binding region

Extended variants
information (count: 169 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:164)

rs_ID	r²[population]
rs10116798	0.89[ASN][1000 genomes]
rs10117150	0.89[ASN][1000 genomes]
rs1014651	0.89[ASN][1000 genomes]
rs1014652	0.86[ASN][1000 genomes]
rs10156395	0.86[ASN][1000 genomes]
rs10739795	0.96[ASN][1000 genomes]
rs10739796	0.87[ASN][1000 genomes]
rs10760710	0.96[ASN][1000 genomes]
rs10760712	0.96[ASN][1000 genomes]
rs10760720	0.89[ASN][1000 genomes]
rs10819714	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10819715	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[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	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10988945	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10988963	0.96[ASN][1000 genomes]
rs10988968	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10988969	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10988973	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10988974	0.85[AMR][1000 genomes];0.81[EUR][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	0.96[ASN][1000 genomes]
rs12685650	0.88[AFR][1000 genomes];0.98[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	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1361668	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[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	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1529192	0.96[ASN][1000 genomes]
rs1529193	0.96[ASN][1000 genomes]
rs1534726	0.95[ASN][1000 genomes]
rs1535667	0.96[ASN][1000 genomes]
rs1539297	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1572607	0.91[ASN][1000 genomes]
rs1578644	0.96[ASN][1000 genomes]
rs1578645	0.96[ASN][1000 genomes]
rs1578646	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1852864	0.96[ASN][1000 genomes]
rs1852865	0.96[ASN][1000 genomes]
rs1891334	0.88[ASN][1000 genomes]
rs1999877	0.89[ASN][1000 genomes]
rs2057476	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2093696	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2096158	0.96[ASN][1000 genomes]
rs2104273	0.96[ASN][1000 genomes]
rs2181579	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2209082	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2476439	0.93[ASN][1000 genomes]
rs2476441	0.89[ASN][1000 genomes]
rs2476442	0.89[ASN][1000 genomes]
rs2491095	0.86[ASN][1000 genomes]
rs2491096	0.86[ASN][1000 genomes]
rs2698999	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2761053	0.93[ASN][1000 genomes]
rs2761056	0.93[ASN][1000 genomes]
rs2787361	0.93[ASN][1000 genomes]
rs2787363	0.84[ASN][1000 genomes]
rs2787364	0.87[ASN][1000 genomes]
rs2787365	0.86[ASN][1000 genomes]
rs2787366	0.93[ASN][1000 genomes]
rs2787393	0.84[ASN][1000 genomes]
rs2787394	0.80[ASN][1000 genomes]
rs2787395	0.81[ASN][1000 genomes]
rs2787396	0.84[ASN][1000 genomes]
rs2787397	0.81[ASN][1000 genomes]
rs2791335	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2791336	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2791337	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2795575	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[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]
rs2806685	0.84[ASN][1000 genomes]
rs2806687	0.84[ASN][1000 genomes]
rs2806688	0.82[ASN][1000 genomes]
rs28448789	0.96[ASN][1000 genomes]
rs35493819	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3824510	0.86[ASN][1000 genomes]
rs41346545	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4495492	0.93[ASN][1000 genomes]
rs4503155	0.96[ASN][1000 genomes]
rs4517187	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4742779	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4743375	0.96[ASN][1000 genomes]
rs4743376	0.96[ASN][1000 genomes]
rs4743378	0.86[ASN][1000 genomes]
rs4743379	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4743380	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4743381	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4743382	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4743384	0.88[ASN][1000 genomes]
rs4743386	0.85[AMR][1000 genomes];0.81[EUR][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	0.93[ASN][1000 genomes]
rs6479002	0.93[ASN][1000 genomes]
rs7018981	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[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	0.96[ASN][1000 genomes]
rs7029020	0.96[ASN][1000 genomes]
rs7029048	0.96[ASN][1000 genomes]
rs7032333	0.96[ASN][1000 genomes]
rs7033091	0.96[ASN][1000 genomes]
rs7036518	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7037362	0.96[ASN][1000 genomes]
rs7041338	0.96[ASN][1000 genomes]
rs7042194	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[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	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7846794	0.93[ASN][1000 genomes]
rs7847213	0.93[ASN][1000 genomes]
rs7853485	0.95[ASN][1000 genomes]
rs7856844	0.93[ASN][1000 genomes]
rs7857530	0.96[ASN][1000 genomes]
rs7858606	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7859492	0.87[ASN][1000 genomes]
rs7861003	0.93[ASN][1000 genomes]
rs7862460	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7870585	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7874449	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs846752	0.89[ASN][1000 genomes]
rs846753	0.87[ASN][1000 genomes]
rs846754	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs846755	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs846756	0.93[ASN][1000 genomes]
rs846758	0.93[ASN][1000 genomes]
rs846759	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs846761	0.93[ASN][1000 genomes]
rs846762	0.98[ASN][1000 genomes]
rs846763	0.86[ASN][1000 genomes]
rs846766	0.89[ASN][1000 genomes]
rs846768	0.89[ASN][1000 genomes]
rs846769	0.89[ASN][1000 genomes]
rs846770	0.89[ASN][1000 genomes]
rs860171	0.91[ASN][1000 genomes]
rs863668	0.93[ASN][1000 genomes]
rs9299337	0.81[ASN][1000 genomes]
rs9408995	0.84[ASN][1000 genomes]
rs9409325	0.81[ASN][1000 genomes]
rs942163	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
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	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	nsv968738	chr9:102760826-102768041	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10760711	INVS	cis	multi-tissue	Pritchard
rs10760711	STX17	cis	Esophagus Mucosa	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102711400-102769200	Weak transcription	Osteobl	bone
2	chr9:102718000-102777600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr9:102729600-102826800	Weak transcription	HMEC	breast
4	chr9:102731000-102778200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr9:102752200-102768600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr9:102752200-102771600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr9:102757400-102790600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr9:102758800-102767000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr9:102759600-102777000	Weak transcription	HUVEC	blood vessel
10	chr9:102760800-102783400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr9:102761000-102778200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr9:102761600-102766400	Weak transcription	Stomach Mucosa	stomach
13	chr9:102762000-102790000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr9:102763400-102767800	Strong transcription	Primary T cells from cord blood	blood
15	chr9:102763400-102770000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr9:102763400-102783400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr9:102763600-102769800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr9:102763800-102766600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr9:102763800-102767600	ZNF genes & repeats	Fetal Brain Female	brain
20	chr9:102763800-102773000	Strong transcription	Primary B cells from peripheral blood	blood
21	chr9:102764000-102767600	ZNF genes & repeats	Fetal Lung	lung
22	chr9:102764000-102767800	Strong transcription	Primary B cells from cord blood	blood
23	chr9:102764200-102773400	Weak transcription	Fetal Heart	heart
24	chr9:102764200-102783200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr9:102764600-102766400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr9:102764600-102766400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
27	chr9:102764600-102766800	ZNF genes & repeats	Fetal Intestine Large	intestine
28	chr9:102764600-102767000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr9:102764600-102767600	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr9:102764600-102769600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr9:102764600-102770400	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr9:102764600-102770400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr9:102764800-102766400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr9:102764800-102766800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr9:102764800-102767000	ZNF genes & repeats	Brain Germinal Matrix	brain
36	chr9:102764800-102770200	Strong transcription	Liver	Liver
37	chr9:102765000-102766200	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
38	chr9:102765000-102766200	ZNF genes & repeats	HSMM	muscle
39	chr9:102765000-102766800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
40	chr9:102765000-102767800	Strong transcription	Placenta Amnion	Placenta Amnion
41	chr9:102765200-102766200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr9:102765200-102768600	Strong transcription	Hela-S3	cervix
43	chr9:102765200-102777000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr9:102765400-102766200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr9:102765400-102766400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
46	chr9:102765400-102766400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
47	chr9:102765400-102767000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
48	chr9:102765400-102767000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
49	chr9:102765400-102767200	Strong transcription	Stomach Smooth Muscle	stomach
50	chr9:102765400-102767600	Strong transcription	HepG2	liver

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