Variant report

Variant	rs7117166
Chromosome Location	chr11:17094258-17094259
allele	C/T
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	chr11:17093708-17100104	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr11:17093738-17102258	K562	blood:	n/a	n/a
3	POLR2A	chr11:17093784-17094322	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr11:17093904-17094352	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr11:17093851-17100645	GM12878	blood:	n/a	n/a
6	POLR2A	chr11:17092359-17097808	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr11:17092732-17100728	GM12891	blood:	n/a	n/a
8	POLR2A	chr11:17093749-17095861	HepG2	liver:	n/a	n/a
9	POLR2A	chr11:17093739-17094420	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr11:17093711-17096861	PFSK-1	brain:	n/a	n/a
11	POLR2A	chr11:17093728-17094337	U87	brain:	n/a	n/a
12	POLR2A	chr11:17093744-17097704	PANC-1	pancreas:	n/a	n/a
13	POLR2A	chr11:17093937-17094654	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr11:17093970-17094356	K562	blood:	n/a	n/a
15	POLR2A	chr11:17092645-17100693	SK-N-MC	brain:	n/a	n/a
16	POLR2A	chr11:17093767-17094469	MCF-7	breast:	n/a	n/a
17	POLR2A	chr11:17093569-17096839	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17009150..17011174-chr11:17092627..17094497,2	MCF-7	breast:
2	chr11:17085165..17088143-chr11:17093678..17095207,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221322	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10832725	0.80[ASN][1000 genomes]
rs10832727	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10832729	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10832731	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10832733	0.82[ASN][1000 genomes]
rs11024113	0.92[ASN][1000 genomes]
rs11024116	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11024130	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11024131	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11024148	0.85[ASN][1000 genomes]
rs11024149	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11024151	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12293395	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12575466	0.89[EUR][1000 genomes]
rs17472886	0.81[ASN][1000 genomes]
rs34902253	0.82[AMR][1000 genomes]
rs4255517	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4456241	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4517490	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6486346	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6486347	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6486348	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7104247	0.84[ASN][1000 genomes]
rs71047522	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7106954	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7107283	0.85[ASN][1000 genomes]
rs7123825	0.86[AFR][1000 genomes]
rs7125607	0.85[ASN][1000 genomes]
rs7130826	0.81[AMR][1000 genomes]
rs7929927	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7930058	0.86[ASN][1000 genomes]
rs7932916	0.84[ASN][1000 genomes]
rs7934571	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7935162	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7935420	0.82[ASN][1000 genomes]
rs7937880	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7939614	0.81[ASN][1000 genomes]
rs7939750	0.81[ASN][1000 genomes]
rs7946165	0.81[ASN][1000 genomes]
rs7949405	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7950225	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7952426	0.81[AMR][1000 genomes]
rs9919540	0.81[ASN][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	nsv467711	chr11:17027555-17320797	Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv553568	chr11:17027555-17320797	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17069400-17096200	Weak transcription	Pancreas	Pancrea
2	chr11:17079400-17094600	Weak transcription	Primary B cells from cord blood	blood
3	chr11:17084400-17095000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr11:17084800-17095200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:17085400-17097200	Weak transcription	Right Ventricle	heart
6	chr11:17085400-17098200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:17086000-17094600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr11:17087000-17095400	Weak transcription	Brain Germinal Matrix	brain
9	chr11:17087000-17098000	Weak transcription	Esophagus	oesophagus
10	chr11:17087200-17094600	Weak transcription	HSMM	muscle
11	chr11:17087200-17095000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr11:17087400-17094600	Weak transcription	NHEK	skin
13	chr11:17087400-17095200	Weak transcription	Fetal Lung	lung
14	chr11:17087600-17094400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:17087600-17095000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr11:17087800-17094600	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr11:17087800-17095200	Weak transcription	NHLF	lung
18	chr11:17088200-17094600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:17088200-17094600	Weak transcription	Liver	Liver
20	chr11:17088200-17095000	Weak transcription	Colon Smooth Muscle	Colon
21	chr11:17088400-17094400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:17088600-17094800	Weak transcription	Brain Hippocampus Middle	brain
23	chr11:17088600-17095000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr11:17088600-17095800	Weak transcription	Brain Angular Gyrus	brain
25	chr11:17088600-17096400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr11:17088800-17095000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr11:17088800-17095200	Weak transcription	Brain Anterior Caudate	brain
28	chr11:17088800-17095200	Weak transcription	Brain Substantia Nigra	brain
29	chr11:17088800-17095200	Weak transcription	NHDF-Ad	bronchial
30	chr11:17089000-17094600	Weak transcription	Fetal Thymus	thymus
31	chr11:17089400-17094400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:17089400-17095000	Weak transcription	Brain Cingulate Gyrus	brain
33	chr11:17089400-17097600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr11:17089600-17094600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr11:17089800-17095200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:17090400-17094800	Weak transcription	Left Ventricle	heart
37	chr11:17090800-17094600	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr11:17091000-17094600	Weak transcription	Primary B cells from peripheral blood	blood
39	chr11:17091000-17094800	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr11:17091400-17095400	Weak transcription	HepG2	liver
41	chr11:17092200-17094400	Weak transcription	Fetal Intestine Large	intestine
42	chr11:17092200-17096200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:17092200-17096400	Strong transcription	Fetal Brain Female	brain
44	chr11:17092200-17098200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:17092200-17098200	Weak transcription	Aorta	Aorta
46	chr11:17092400-17094600	Weak transcription	Adipose Nuclei	Adipose
47	chr11:17092400-17094800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr11:17092400-17094800	Weak transcription	Ovary	ovary
49	chr11:17092400-17095800	Weak transcription	Rectal Smooth Muscle	rectum
50	chr11:17092600-17094600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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