Variant report

Variant	rs10832762
Chromosome Location	chr11:17350421-17350422
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	chr11:17350002-17351412	HL-60	blood:	n/a	n/a
2	RAD21	chr11:17350383-17350829	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr11:17350389-17350677	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr11:17350312-17350944	K562	blood:	n/a	n/a
5	CTCF	chr11:17350320-17350470	GM12873	blood:	n/a	n/a

Variant related genes	Relation type
NUCB2	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10219196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10466382	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10766383	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10766384	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10766385	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10766387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10766389	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10832757	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10832758	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10832759	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10832760	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10832763	0.98[ASN][1000 genomes]
rs10832764	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10832765	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10832768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10832769	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10832770	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10832771	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10832772	0.85[ASN][1000 genomes]
rs10832773	0.81[ASN][1000 genomes]
rs10832774	0.84[ASN][1000 genomes]
rs10832775	0.84[ASN][1000 genomes]
rs11024244	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11024250	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11024251	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11024253	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024254	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024256	0.98[ASN][1000 genomes]
rs11024260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024262	0.80[ASN][1000 genomes]
rs11024263	0.83[ASN][1000 genomes]
rs11525338	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12225041	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2354867	0.85[ASN][1000 genomes]
rs4582955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67904954	0.95[ASN][1000 genomes]
rs7950330	0.81[ASN][1000 genomes]
rs9645621	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1799280	chr11:17299390-17354775	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	esv1801731	chr11:17299390-17354775	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10832762	KCNJ11	cis	Esophagus Mucosa	GTEx
rs10832762	RP1-239B22.5	cis	Esophagus Mucosa	GTEx
rs10832762	NCR3LG1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17299000-17357200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:17299000-17357600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:17299000-17360600	Weak transcription	Small Intestine	intestine
4	chr11:17299200-17357000	Weak transcription	Brain Substantia Nigra	brain
5	chr11:17299400-17355400	Weak transcription	Brain Angular Gyrus	brain
6	chr11:17299400-17357000	Weak transcription	Fetal Intestine Large	intestine
7	chr11:17306200-17353000	Weak transcription	Colon Smooth Muscle	Colon
8	chr11:17308200-17353600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr11:17308200-17357600	Weak transcription	HepG2	liver
10	chr11:17308200-17360800	Strong transcription	Fetal Thymus	thymus
11	chr11:17308200-17372600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr11:17308400-17356800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr11:17308400-17361600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr11:17309000-17355600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr11:17312200-17355400	Weak transcription	Fetal Kidney	kidney
16	chr11:17314200-17353400	Weak transcription	Stomach Mucosa	stomach
17	chr11:17315400-17353400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr11:17316000-17360000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:17316000-17361000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:17318400-17355600	Weak transcription	Gastric	stomach
21	chr11:17318600-17353600	Weak transcription	Brain Anterior Caudate	brain
22	chr11:17319000-17356400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr11:17320800-17372400	Weak transcription	GM12878-XiMat	blood
24	chr11:17322600-17356200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:17324200-17353600	Weak transcription	Aorta	Aorta
26	chr11:17326400-17358000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:17327600-17353800	Weak transcription	Ovary	ovary
28	chr11:17330200-17358000	Weak transcription	K562	blood
29	chr11:17331800-17357400	Weak transcription	Brain Hippocampus Middle	brain
30	chr11:17331800-17362000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr11:17334000-17371000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr11:17335400-17355600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:17335400-17356000	Weak transcription	Colonic Mucosa	Colon
34	chr11:17335600-17361000	Strong transcription	Dnd41	blood
35	chr11:17335800-17353600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr11:17335800-17357200	Weak transcription	Fetal Brain Male	brain
37	chr11:17335800-17357600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr11:17336000-17353800	Weak transcription	Primary B cells from cord blood	blood
39	chr11:17336000-17355000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr11:17336200-17353800	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr11:17336200-17355000	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr11:17336200-17372600	Weak transcription	HUVEC	blood vessel
43	chr11:17336400-17353600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:17336400-17353600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr11:17336400-17355800	Weak transcription	Psoas Muscle	Psoas
46	chr11:17336400-17360800	Weak transcription	HSMM	muscle
47	chr11:17336600-17353600	Weak transcription	Fetal Brain Female	brain
48	chr11:17336600-17355000	Weak transcription	Duodenum Mucosa	Duodenum
49	chr11:17336800-17358400	Weak transcription	Brain Germinal Matrix	brain
50	chr11:17336800-17365000	Weak transcription	NHEK	skin

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