Variant report

Variant	rs61685207
Chromosome Location	chr11:8708654-8708655
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:88)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:88 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:8708423-8711051	MCF-7	breast:	n/a	n/a
2	PML	chr11:8707953-8709337	K562	blood:	n/a	n/a
3	POLR2A	chr11:8702898-8711816	GM12891	blood:	n/a	n/a
4	POLR2A	chr11:8708481-8709266	K562	blood:	n/a	n/a
5	POLR2A	chr11:8702842-8711846	PANC-1	pancreas:	n/a	n/a
6	HEY1	chr11:8708373-8708832	HepG2	liver:	n/a	n/a
7	POLR2A	chr11:8707941-8711031	HCT-116	colon:	n/a	n/a
8	POLR2A	chr11:8708390-8708845	ECC-1	luminal epithelium:	n/a	n/a
9	POLR2A	chr11:8708358-8709117	HCT-116	colon:	n/a	n/a
10	POLR2A	chr11:8707894-8712756	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr11:8708421-8709102	HepG2	liver:	n/a	n/a
12	PML	chr11:8707938-8711395	GM12878	blood:	n/a	n/a
13	POLR2A	chr11:8702826-8712230	PFSK-1	brain:	n/a	n/a
14	CHD1	chr11:8708415-8708717	GM12878	blood:	n/a	n/a
15	POLR2A	chr11:8708308-8711028	K562	blood:	n/a	n/a
16	POLR2A	chr11:8703065-8711665	GM12878	blood:	n/a	n/a
17	POLR2A	chr11:8703054-8722039	HepG2	liver:	n/a	n/a
18	POLR2A	chr11:8707866-8711917	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr11:8702980-8720607	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr11:8708316-8711063	GM19099	blood:	n/a	n/a
21	POLR2A	chr11:8700198-8712489	PANC-1	pancreas:	n/a	n/a
22	POLR2A	chr11:8707896-8709247	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr11:8708337-8709322	HL-60	blood:	n/a	n/a
24	POLR2A	chr11:8708389-8709272	K562	blood:	n/a	n/a
25	POLR2A	chr11:8708278-8711226	K562	blood:	n/a	n/a
26	POLR2A	chr11:8707802-8709365	HL-60	blood:	n/a	n/a
27	POLR2A	chr11:8707569-8711036	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr11:8703029-8712154	K562	blood:	n/a	n/a
29	POLR2A	chr11:8708298-8709335	SK-N-SH	brain:	n/a	n/a
30	POLR2A	chr11:8700848-8711808	HepG2	liver:	n/a	n/a
31	POLR2A	chr11:8706460-8711304	GM12891	blood:	n/a	n/a
32	POLR2A	chr11:8707326-8716047	MCF10A-Er-Src	breast:	n/a	n/a
33	NRF1	chr11:8708404-8708736	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr11:8708295-8712600	GM12891	blood:	n/a	n/a
35	POLR2A	chr11:8706411-8711893	K562	blood:	n/a	n/a
36	POLR2A	chr11:8708653-8708977	ECC-1	luminal epithelium:	n/a	n/a
37	POLR2A	chr11:8708290-8711213	GM12891	blood:	n/a	n/a
38	POLR2A	chr11:8708498-8711616	GM19193	blood:	n/a	n/a
39	POLR2A	chr11:8708288-8709210	HUVEC	blood vessel:	n/a	n/a
40	POLR2A	chr11:8708343-8708852	GM12891	blood:	n/a	n/a
41	HEY1	chr11:8708328-8708912	K562	blood:	n/a	n/a
42	POLR2A	chr11:8708433-8709076	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr11:8708506-8710988	K562	blood:	n/a	n/a
44	POLR2A	chr11:8706483-8711750	HUVEC	blood vessel:	n/a	n/a
45	POLR2A	chr11:8708249-8712646	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr11:8702994-8711864	GM12892	blood:	n/a	n/a
47	POLR2A	chr11:8708286-8711978	PBDE	blood:	n/a	n/a
48	POLR2A	chr11:8707989-8711076	U87	brain:	n/a	n/a
49	POLR2A	chr11:8708439-8708882	HepG2	liver:	n/a	n/a
50	POLR2A	chr11:8707989-8709262	U87	brain:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:8706918..8709095-chr11:8891415..8893255,2	MCF-7	breast:
2	chr11:8708222..8712147-chr11:8785051..8789387,4	MCF-7	breast:
3	chr11:8708277..8712745-chr11:8814108..8817920,5	MCF-7	breast:
4	chr11:8708558..8712875-chr11:8739230..8741866,3	K562	blood:
5	chr11:8707490..8709770-chr11:8761383..8763513,3	K562	blood:
6	chr11:8680378..8682293-chr11:8708475..8710469,2	MCF-7	breast:
7	chr11:8708263..8710064-chr11:8790794..8793308,2	MCF-7	breast:
8	chr11:8708369..8710243-chr11:8992642..8995400,2	K562	blood:
9	chr11:8656504..8659058-chr11:8708189..8710580,2	K562	blood:
10	chr11:8670735..8672985-chr11:8708630..8710565,2	K562	blood:
11	chr11:8708284..8710316-chr11:8838549..8840292,2	MCF-7	breast:
12	chr11:8707539..8711325-chr11:8831652..8835543,5	MCF-7	breast:
13	chr11:8708063..8712072-chr11:8719395..8721853,4	MCF-7	breast:
14	chr11:8708115..8711236-chr11:8740398..8742559,3	MCF-7	breast:

No data

Variant related genes	Relation type
RPL27A	TF binding region
ENSG00000166444	Chromatin interaction
ENSG00000166436	Chromatin interaction

rs_ID	r²[population]
rs55931237	0.92[AFR][1000 genomes]
rs57312436	0.82[AFR][1000 genomes]
rs59752192	0.81[AFR][1000 genomes]
rs59942149	0.85[AFR][1000 genomes]
rs60449221	0.81[AFR][1000 genomes]
rs74055106	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74055109	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74055113	0.82[AFR][1000 genomes]
rs74055115	1.00[EUR][1000 genomes]
rs7935091	0.82[AFR][1000 genomes]

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8704800-8709200	Transcr. at gene 5' and 3'	K562	blood
2	chr11:8705400-8709800	Weak transcription	Aorta	Aorta
3	chr11:8705600-8709000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
4	chr11:8705800-8709200	Transcr. at gene 5' and 3'	Hela-S3	cervix
5	chr11:8706000-8708800	Strong transcription	Brain Inferior Temporal Lobe	brain
6	chr11:8706000-8708800	Strong transcription	Fetal Brain Female	brain
7	chr11:8706000-8708800	Strong transcription	Lung	lung
8	chr11:8706000-8708800	Strong transcription	Pancreas	Pancrea
9	chr11:8706000-8709000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:8706000-8709000	Strong transcription	Fetal Stomach	stomach
11	chr11:8706000-8709200	Strong transcription	Fetal Muscle Trunk	muscle
12	chr11:8706000-8709400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:8706000-8709600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:8706000-8709600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:8706000-8709600	Weak transcription	Right Atrium	heart
16	chr11:8706200-8708800	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr11:8706200-8708800	Strong transcription	Brain Substantia Nigra	brain
18	chr11:8706200-8708800	Strong transcription	Fetal Thymus	thymus
19	chr11:8706200-8708800	Strong transcription	Stomach Smooth Muscle	stomach
20	chr11:8706200-8709000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:8706200-8709000	Strong transcription	Brain Hippocampus Middle	brain
22	chr11:8706200-8709000	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr11:8706200-8709600	Strong transcription	Brain Germinal Matrix	brain
24	chr11:8706400-8708800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr11:8706400-8708800	Strong transcription	Brain Anterior Caudate	brain
26	chr11:8706400-8708800	Strong transcription	Fetal Kidney	kidney
27	chr11:8706400-8708800	Strong transcription	Fetal Lung	lung
28	chr11:8706400-8708800	Strong transcription	Placenta	Placenta
29	chr11:8706400-8709000	Strong transcription	Primary hematopoietic stem cells	blood
30	chr11:8706600-8708800	Genic enhancers	HepG2	liver
31	chr11:8706600-8709000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:8706600-8709200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr11:8706800-8708800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr11:8706800-8708800	Strong transcription	Primary B cells from cord blood	blood
35	chr11:8706800-8708800	Strong transcription	Primary B cells from peripheral blood	blood
36	chr11:8706800-8708800	Strong transcription	Primary T cells from cord blood	blood
37	chr11:8706800-8708800	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr11:8706800-8708800	Strong transcription	Brain Cingulate Gyrus	brain
39	chr11:8706800-8709000	Strong transcription	Brain Angular Gyrus	brain
40	chr11:8706800-8709000	Weak transcription	Fetal Heart	heart
41	chr11:8706800-8709000	Strong transcription	Fetal Intestine Large	intestine
42	chr11:8706800-8709200	Strong transcription	Duodenum Mucosa	Duodenum
43	chr11:8706800-8709400	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr11:8707000-8708800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
45	chr11:8707000-8708800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr11:8707000-8708800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr11:8707000-8708800	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr11:8707000-8708800	Strong transcription	Small Intestine	intestine
49	chr11:8707000-8708800	Genic enhancers	Dnd41	blood
50	chr11:8707000-8708800	Genic enhancers	HMEC	breast

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