Variant report

Variant	rs11042041
Chromosome Location	chr11:8714138-8714139
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:39 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:8714065-8714938	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr11:8712959-8716030	HepG2	liver:	n/a	n/a
3	POLR2A	chr11:8712869-8716340	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr11:8712938-8715258	GM12892	blood:	n/a	n/a
5	POLR2A	chr11:8714043-8714233	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr11:8703054-8722039	HepG2	liver:	n/a	n/a
7	POLR2A	chr11:8702980-8720607	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr11:8712815-8716294	GM12892	blood:	n/a	n/a
9	POLR2A	chr11:8713156-8715208	K562	blood:	n/a	n/a
10	POLR2A	chr11:8714001-8716178	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:8714005-8716055	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr11:8713482-8716612	HepG2	liver:	n/a	n/a
13	POLR2A	chr11:8713641-8715408	K562	blood:	n/a	n/a
14	POLR2A	chr11:8714006-8714248	GM12878	blood:	n/a	n/a
15	POLR2A	chr11:8707326-8716047	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr11:8714067-8715149	GM12891	blood:	n/a	n/a
17	POLR2A	chr11:8713876-8715249	GM12878	blood:	n/a	n/a
18	POLR2A	chr11:8712836-8716179	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr11:8712930-8716010	GM12892	blood:	n/a	n/a
20	POLR2A	chr11:8713003-8716047	K562	blood:	n/a	n/a
21	POLR2A	chr11:8712899-8716153	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr11:8713969-8714184	GM12878	blood:	n/a	n/a
23	POLR2A	chr11:8713920-8715511	GM12878	blood:	n/a	n/a
24	POLR2A	chr11:8712840-8716258	K562	blood:	n/a	n/a
25	POLR2A	chr11:8712864-8716311	GM12892	blood:	n/a	n/a
26	POLR2A	chr11:8712893-8716033	GM12891	blood:	n/a	n/a
27	POLR2A	chr11:8703209-8716167	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr11:8713822-8716686	Hela-S3	cervix:	n/a	n/a
29	CHD2	chr11:8713993-8714526	K562	blood:	n/a	n/a
30	POLR2A	chr11:8712929-8716088	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr11:8712966-8714255	K562	blood:	n/a	n/a
32	POLR2A	chr11:8706470-8718381	A549	lung:	n/a	n/a
33	POLR2A	chr11:8708092-8716216	IMR90	lung:	n/a	n/a
34	POLR2A	chr11:8712839-8716621	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr11:8712888-8716455	K562	blood:	n/a	n/a
36	POLR2A	chr11:8712953-8715898	K562	blood:	n/a	n/a
37	POLR2A	chr11:8703113-8722297	HepG2	liver:	n/a	n/a
38	HEY1	chr11:8713786-8715175	HepG2	liver:	n/a	n/a
39	POLR2A	chr11:8712962-8716266	GM12891	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:8712215..8714254-chr11:8934195..8936009,2	MCF-7	breast:
2	chr11:8709069..8714690-chr11:8738952..8744779,10	MCF-7	breast:
3	chr11:8630374..8632927-chr11:8712700..8714781,2	K562	blood:
4	chr11:8712583..8715464-chr11:8715997..8718861,3	MCF-7	breast:
5	chr11:8385561..8387453-chr11:8711984..8714377,2	K562	blood:
6	chr11:8711697..8714687-chr11:8851727..8854512,2	K562	blood:
7	chr11:8709479..8712307-chr11:8712972..8716902,4	MCF-7	breast:
8	chr11:8709503..8714356-chr11:8719036..8721571,6	MCF-7	breast:
9	chr11:8713787..8716446-chr11:9025116..9027150,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000254665	TF binding region
ENSG00000166444	Chromatin interaction
ENSG00000253973	Chromatin interaction
ENSG00000166441	Chromatin interaction
ENSG00000175352	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 13 )

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

rs_ID	r²[population]
rs10840105	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10840106	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10840112	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2036422	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2073684	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35104495	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7123653	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7940366	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs11042041	TRIM66	cis	Adipose Subcutaneous	GTEx
rs11042041	TRIM66	cis	Thyroid	GTEx
rs11042041	TRIM66	cis	Skin Sun Exposed Lower leg	GTEx
rs11042041	TRIM66	cis	Esophagus Muscularis	GTEx
rs11042041	TRIM66	Cis_1M	lymphoblastoid	RTeQTL
rs11042041	TRIM66	cis	Artery Tibial	GTEx
rs11042041	TRIM66	cis	Nerve Tibial	GTEx
rs11042041	TRIM66	cis	Whole Blood	GTEx
rs11042041	TRIM66	cis	Muscle Skeletal	GTEx
rs11042041	TRIM66	cis	lung	GTEx
rs11042041	LOC256273	Cis_1M	lymphoblastoid	RTeQTL
rs11042041	TRIM66	cis	Esophagus Mucosa	GTEx
rs11042041	TRIM66	cis	Heart Left Ventricle	GTEx

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8710800-8714400	Weak transcription	Pancreas	Pancrea
2	chr11:8710800-8721200	Weak transcription	Small Intestine	intestine
3	chr11:8711000-8718400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:8711000-8720000	Weak transcription	Stomach Mucosa	stomach
5	chr11:8711200-8714200	Weak transcription	Brain Hippocampus Middle	brain
6	chr11:8711200-8714200	Weak transcription	Fetal Kidney	kidney
7	chr11:8711200-8714400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr11:8711200-8715800	Weak transcription	Fetal Brain Male	brain
9	chr11:8711200-8717000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr11:8711400-8714800	Weak transcription	Fetal Brain Female	brain
11	chr11:8711400-8717000	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr11:8711400-8718800	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr11:8711400-8720400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:8711400-8721000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr11:8711600-8714200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr11:8711600-8715200	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr11:8711600-8718800	Weak transcription	Fetal Heart	heart
18	chr11:8711600-8720200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:8711600-8720400	Strong transcription	Fetal Muscle Leg	muscle
20	chr11:8711600-8720800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:8711600-8721400	Weak transcription	Primary B cells from cord blood	blood
22	chr11:8711800-8714200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr11:8711800-8714400	Strong transcription	NHLF	lung
24	chr11:8711800-8716400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:8711800-8719800	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr11:8711800-8720200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:8711800-8720400	Strong transcription	NH-A	brain
28	chr11:8711800-8720600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:8711800-8720800	Strong transcription	HSMM	muscle
30	chr11:8711800-8721200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr11:8711800-8721200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:8711800-8721200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr11:8711800-8722200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:8711800-8724200	Weak transcription	Thymus	Thymus
35	chr11:8712000-8714200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr11:8712000-8719200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr11:8712000-8719800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr11:8712000-8720200	Strong transcription	Fetal Muscle Trunk	muscle
39	chr11:8712000-8720600	Strong transcription	HSMMtube	muscle
40	chr11:8712000-8721200	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr11:8712200-8714200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr11:8712200-8717800	Strong transcription	Hela-S3	cervix
43	chr11:8712200-8719000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr11:8712200-8719200	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr11:8712200-8719400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr11:8712200-8719800	Strong transcription	Fetal Intestine Small	intestine
47	chr11:8712200-8721000	Strong transcription	Stomach Smooth Muscle	stomach
48	chr11:8712200-8721200	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr11:8712200-8721400	Weak transcription	Dnd41	blood
50	chr11:8712400-8715800	Strong transcription	HUES6 Cell Line	embryonic stem cell

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