Variant report

Variant	rs61879688
Chromosome Location	chr11:17094600-17094601
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:44)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:44 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:17094422-17096005	U87	brain:	n/a	n/a
2	POLR2A	chr11:17094552-17095875	K562	blood:	n/a	n/a
3	POLR2A	chr11:17093708-17100104	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr11:17094515-17095925	GM12891	blood:	n/a	n/a
5	POLR2A	chr11:17094540-17095581	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr11:17093738-17102258	K562	blood:	n/a	n/a
7	POLR2A	chr11:17094588-17097949	K562	blood:	n/a	n/a
8	POLR2A	chr11:17094321-17099956	PFSK-1	brain:	n/a	n/a
9	POLR2A	chr11:17094558-17095612	GM12891	blood:	n/a	n/a
10	POLR2A	chr11:17093851-17100645	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:17094471-17095823	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr11:17094515-17100328	GM12878	blood:	n/a	n/a
13	POLR2A	chr11:17092359-17097808	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr11:17094484-17095663	K562	blood:	n/a	n/a
15	POLR2A	chr11:17094538-17095924	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr11:17094568-17100192	GM12892	blood:	n/a	n/a
17	POLR2A	chr11:17094537-17100702	K562	blood:	n/a	n/a
18	POLR2A	chr11:17092732-17100728	GM12891	blood:	n/a	n/a
19	POLR2A	chr11:17094540-17094770	HCT-116	colon:	n/a	n/a
20	POLR2A	chr11:17093749-17095861	HepG2	liver:	n/a	n/a
21	POLR2A	chr11:17094536-17100574	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr11:17094554-17095911	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr11:17093711-17096861	PFSK-1	brain:	n/a	n/a
24	MTA3	chr11:17094565-17095917	GM12878	blood:	n/a	n/a
25	POLR2A	chr11:17094562-17094949	HepG2	liver:	n/a	n/a
26	POLR2A	chr11:17094401-17100379	GM12892	blood:	n/a	n/a
27	POLR2A	chr11:17094558-17095902	PANC-1	pancreas:	n/a	n/a
28	POLR2A	chr11:17093744-17097704	PANC-1	pancreas:	n/a	n/a
29	POLR2A	chr11:17094528-17095872	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr11:17094483-17095890	GM12892	blood:	n/a	n/a
31	POLR2A	chr11:17094571-17095941	GM12892	blood:	n/a	n/a
32	POLR2A	chr11:17094551-17095861	K562	blood:	n/a	n/a
33	POLR2A	chr11:17093937-17094654	HUVEC	blood vessel:	n/a	n/a
34	POLR2A	chr11:17094570-17094727	A549	lung:	n/a	n/a
35	POLR2A	chr11:17094591-17095964	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr11:17094590-17095970	HL-60	blood:	n/a	n/a
37	POLR2A	chr11:17094499-17094881	ECC-1	luminal epithelium:	n/a	n/a
38	POLR2A	chr11:17094428-17095933	U87	brain:	n/a	n/a
39	POLR2A	chr11:17094546-17094757	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr11:17092645-17100693	SK-N-MC	brain:	n/a	n/a
41	POLR2A	chr11:17094558-17095915	GM12891	blood:	n/a	n/a
42	POLR2A	chr11:17094552-17094693	HepG2	liver:	n/a	n/a
43	POLR2A	chr11:17094590-17095842	HCT-116	colon:	n/a	n/a
44	POLR2A	chr11:17093569-17096839	Hela-S3	cervix:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
ENSG00000221322	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11604561	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1544609	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35297605	0.80[EUR][1000 genomes]
rs61762011	0.83[EUR][1000 genomes]
rs61879698	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61879699	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61879703	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61879714	0.83[EUR][1000 genomes]
rs61879715	0.82[EUR][1000 genomes]
rs61879721	0.81[EUR][1000 genomes]
rs61879731	0.81[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	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:146 , 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	chr11:17087600-17095000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr11:17087800-17094600	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr11:17087800-17095200	Weak transcription	NHLF	lung
17	chr11:17088200-17094600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:17088200-17094600	Weak transcription	Liver	Liver
19	chr11:17088200-17095000	Weak transcription	Colon Smooth Muscle	Colon
20	chr11:17088600-17094800	Weak transcription	Brain Hippocampus Middle	brain
21	chr11:17088600-17095000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr11:17088600-17095800	Weak transcription	Brain Angular Gyrus	brain
23	chr11:17088600-17096400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:17088800-17095000	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr11:17088800-17095200	Weak transcription	Brain Anterior Caudate	brain
26	chr11:17088800-17095200	Weak transcription	Brain Substantia Nigra	brain
27	chr11:17088800-17095200	Weak transcription	NHDF-Ad	bronchial
28	chr11:17089000-17094600	Weak transcription	Fetal Thymus	thymus
29	chr11:17089400-17095000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr11:17089400-17097600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:17089600-17094600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr11:17089800-17095200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr11:17090400-17094800	Weak transcription	Left Ventricle	heart
34	chr11:17090800-17094600	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr11:17091000-17094600	Weak transcription	Primary B cells from peripheral blood	blood
36	chr11:17091000-17094800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr11:17091400-17095400	Weak transcription	HepG2	liver
38	chr11:17092200-17096200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:17092200-17096400	Strong transcription	Fetal Brain Female	brain
40	chr11:17092200-17098200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:17092200-17098200	Weak transcription	Aorta	Aorta
42	chr11:17092400-17094600	Weak transcription	Adipose Nuclei	Adipose
43	chr11:17092400-17094800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr11:17092400-17094800	Weak transcription	Ovary	ovary
45	chr11:17092400-17095800	Weak transcription	Rectal Smooth Muscle	rectum
46	chr11:17092600-17094600	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr11:17092600-17095000	Weak transcription	Primary T cells from cord blood	blood
48	chr11:17092600-17095000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr11:17092600-17095200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:17092600-17096200	Strong transcription	Placenta	Placenta

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