Variant report

Variant	rs2036422
Chromosome Location	chr11:8709337-8709338
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:91)
CpG islands
(count:0)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:91 , 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	SIX5	chr11:8709323-8711065	A549	lung:	n/a	n/a
5	POLR2A	chr11:8702842-8711846	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr11:8707941-8711031	HCT-116	colon:	n/a	n/a
7	POLR2A	chr11:8709263-8711112	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:8707894-8712756	Hela-S3	cervix:	n/a	n/a
9	PML	chr11:8707938-8711395	GM12878	blood:	n/a	n/a
10	POLR2A	chr11:8702826-8712230	PFSK-1	brain:	n/a	n/a
11	POLR2A	chr11:8708308-8711028	K562	blood:	n/a	n/a
12	POLR2A	chr11:8703065-8711665	GM12878	blood:	n/a	n/a
13	POLR2A	chr11:8703054-8722039	HepG2	liver:	n/a	n/a
14	POLR2A	chr11:8707866-8711917	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr11:8702980-8720607	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr11:8708688-8711061	Raji	blood:	n/a	n/a
17	POLR2A	chr11:8708316-8711063	GM19099	blood:	n/a	n/a
18	POLR2A	chr11:8700198-8712489	PANC-1	pancreas:	n/a	n/a
19	POLR2A	chr11:8708278-8711226	K562	blood:	n/a	n/a
20	POLR2A	chr11:8707802-8709365	HL-60	blood:	n/a	n/a
21	POLR2A	chr11:8707569-8711036	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr11:8703029-8712154	K562	blood:	n/a	n/a
23	NFIC	chr11:8708888-8711233	GM12878	blood:	n/a	n/a
24	POLR2A	chr11:8700848-8711808	HepG2	liver:	n/a	n/a
25	POLR2A	chr11:8706460-8711304	GM12891	blood:	n/a	n/a
26	SIN3AK20	chr11:8709255-8710878	PANC-1	pancreas:	n/a	n/a
27	POLR2A	chr11:8707326-8716047	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr11:8708295-8712600	GM12891	blood:	n/a	n/a
29	POLR2A	chr11:8709323-8711076	U87	brain:	n/a	n/a
30	POLR2A	chr11:8706411-8711893	K562	blood:	n/a	n/a
31	POLR2A	chr11:8708290-8711213	GM12891	blood:	n/a	n/a
32	POLR2A	chr11:8708498-8711616	GM19193	blood:	n/a	n/a
33	RELA	chr11:8709147-8710904	GM12891	blood:	n/a	n/a
34	POLR2A	chr11:8708506-8710988	K562	blood:	n/a	n/a
35	POLR2A	chr11:8706483-8711750	HUVEC	blood vessel:	n/a	n/a
36	POLR2A	chr11:8708249-8712646	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr11:8702994-8711864	GM12892	blood:	n/a	n/a
38	POLR2A	chr11:8708286-8711978	PBDE	blood:	n/a	n/a
39	POLR2A	chr11:8709279-8711013	HepG2	liver:	n/a	n/a
40	POLR2A	chr11:8707989-8711076	U87	brain:	n/a	n/a
41	BCL3	chr11:8709336-8711121	A549	lung:	n/a	n/a
42	POLR2A	chr11:8708891-8711025	GM12891	blood:	n/a	n/a
43	MTA3	chr11:8708834-8711117	GM12878	blood:	n/a	n/a
44	ATF2	chr11:8708054-8711508	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr11:8709335-8710879	HepG2	liver:	n/a	n/a
46	POLR2A	chr11:8708966-8710910	HEK293	kidney:	n/a	n/a
47	POLR2A	chr11:8707414-8711376	GM12878	blood:	n/a	n/a
48	POLR2A	chr11:8707524-8713601	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr11:8703054-8712257	K562	blood:	n/a	n/a
50	HCFC1	chr11:8709305-8711757	Hela-S3	cervix:	n/a	n/a

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:8709152..8712798-chr11:8746110..8748956,4	MCF-7	breast:
2	chr11:8708851..8710617-chr11:8748312..8750777,3	K562	blood:
3	chr11:8708222..8712147-chr11:8785051..8789387,4	MCF-7	breast:
4	chr11:8708277..8712745-chr11:8814108..8817920,5	MCF-7	breast:
5	chr11:8708558..8712875-chr11:8739230..8741866,3	K562	blood:
6	chr11:8707490..8709770-chr11:8761383..8763513,3	K562	blood:
7	chr11:8709096..8712017-chr11:9482712..9485056,2	K562	blood:
8	chr11:8680378..8682293-chr11:8708475..8710469,2	MCF-7	breast:
9	chr11:8709069..8714690-chr11:8738952..8744779,10	MCF-7	breast:
10	chr11:8708263..8710064-chr11:8790794..8793308,2	MCF-7	breast:
11	chr11:8709205..8712397-chr11:8778361..8782089,3	MCF-7	breast:
12	chr11:8709011..8709547-chr16:82921368..82921888,2	HCT-116	colon:
13	chr11:8639153..8644664-chr11:8708674..8711558,4	K562	blood:
14	chr11:8708369..8710243-chr11:8992642..8995400,2	K562	blood:
15	chr11:8656504..8659058-chr11:8708189..8710580,2	K562	blood:
16	chr11:8670735..8672985-chr11:8708630..8710565,2	K562	blood:
17	chr11:8708284..8710316-chr11:8838549..8840292,2	MCF-7	breast:
18	chr11:8707539..8711325-chr11:8831652..8835543,5	MCF-7	breast:
19	chr11:8708821..8711720-chr11:8797773..8800794,3	MCF-7	breast:
20	chr11:8708063..8712072-chr11:8719395..8721853,4	MCF-7	breast:
21	chr11:8708115..8711236-chr11:8740398..8742559,3	MCF-7	breast:
22	chr11:8709091..8710608-chr11:8985124..8987307,2	MCF-7	breast:
23	chr11:8669571..8671256-chr11:8708730..8710584,2	MCF-7	breast:
24	chr11:8709045..8711792-chr2:74211303..74213379,2	MCF-7	breast:

No data

Variant related genes	Relation type
RPL27A	TF binding region
ENSG00000235499	Chromatin interaction
ENSG00000175348	Chromatin interaction
ENSG00000254860	Chromatin interaction
ENSG00000166436	Chromatin interaction
ENSG00000166444	Chromatin interaction
ENSG00000166478	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10840105	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10840106	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10840112	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11042041	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2073684	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35104495	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7123653	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7940366	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs2036422	TRIM66	cis	Esophagus Mucosa	GTEx
rs2036422	TRIM66	cis	lung	GTEx
rs2036422	TRIM66	cis	Muscle Skeletal	GTEx
rs2036422	TRIM66	cis	Nerve Tibial	GTEx
rs2036422	TRIM66	cis	Esophagus Muscularis	GTEx
rs2036422	TRIM66	cis	Adipose Subcutaneous	GTEx
rs2036422	TRIM66	cis	Artery Aorta	GTEx
rs2036422	TRIM66	Cis_1M	lymphoblastoid	RTeQTL
rs2036422	TRIM66	cis	Thyroid	GTEx
rs2036422	TRIM66	cis	Skin Sun Exposed Lower leg	GTEx
rs2036422	TRIM66	cis	Artery Tibial	GTEx
rs2036422	TRIM66	cis	Whole Blood	GTEx
rs2036422	TRIM66	cis	Heart Left Ventricle	GTEx
rs2036422	LOC256273	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8705400-8709800	Weak transcription	Aorta	Aorta
2	chr11:8706000-8709400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:8706000-8709600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr11:8706000-8709600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:8706000-8709600	Weak transcription	Right Atrium	heart
6	chr11:8706200-8709600	Strong transcription	Brain Germinal Matrix	brain
7	chr11:8706800-8709400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr11:8707000-8709400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:8707000-8709400	Genic enhancers	HUVEC	blood vessel
10	chr11:8707000-8709600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:8707000-8709600	Genic enhancers	Osteobl	bone
12	chr11:8707200-8709400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:8707200-8709400	Strong transcription	Fetal Intestine Small	intestine
14	chr11:8707200-8709400	Genic enhancers	HSMM	muscle
15	chr11:8707400-8709400	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr11:8707400-8709400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr11:8707400-8709400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr11:8707400-8709600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:8707400-8709600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr11:8707600-8709600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:8707600-8709600	Weak transcription	Gastric	stomach
22	chr11:8707600-8709800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
23	chr11:8707600-8710000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr11:8707600-8710000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:8707800-8709400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr11:8707800-8709600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr11:8708000-8709400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr11:8708000-8709600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:8708000-8709600	Weak transcription	Thymus	Thymus
30	chr11:8708000-8710000	Weak transcription	Ovary	ovary
31	chr11:8708200-8709600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr11:8708200-8709600	Weak transcription	Esophagus	oesophagus
33	chr11:8708200-8709800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr11:8708400-8709600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:8708400-8709600	Enhancers	Stomach Mucosa	stomach
36	chr11:8708600-8709400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr11:8708600-8709400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr11:8708600-8709400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr11:8708600-8709400	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr11:8708600-8709400	Weak transcription	Spleen	Spleen
41	chr11:8708600-8709600	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr11:8708600-8709600	Enhancers	Muscle Satellite Cultured Cells	--
43	chr11:8708600-8709600	Weak transcription	Adipose Nuclei	Adipose
44	chr11:8708600-8709600	Weak transcription	Colon Smooth Muscle	Colon
45	chr11:8708600-8709600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr11:8708800-8709400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr11:8708800-8709400	Weak transcription	Primary B cells from cord blood	blood
48	chr11:8708800-8709400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr11:8708800-8709400	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr11:8708800-8709400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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