Variant report

Variant	rs2073684
Chromosome Location	chr11:8704965-8704966
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:165)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:165 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PML	chr11:8703295-8705344	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:8703545-8706440	H1-hESC	embryonic stem cell:	n/a	n/a
3	TBL1XR1	chr11:8703814-8705226	K562	blood:	n/a	n/a
4	POLR2A	chr11:8702898-8711816	GM12891	blood:	n/a	n/a
5	ARID3A	chr11:8704088-8705126	K562	blood:	n/a	n/a
6	MXI1	chr11:8703707-8705253	GM12878	blood:	n/a	n/a
7	GABPA	chr11:8703751-8704997	A549	lung:	n/a	chr11:8704293-8704302
8	POLR2A	chr11:8702941-8705349	U87	brain:	n/a	n/a
9	SP1	chr11:8704643-8705253	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr11:8703038-8705287	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr11:8702842-8711846	PANC-1	pancreas:	n/a	n/a
12	TBP	chr11:8703145-8705218	K562	blood:	n/a	n/a
13	BCL3	chr11:8703845-8705247	A549	lung:	n/a	chr11:8704273-8704282 chr11:8703878-8703891 chr11:8704478-8704491
14	HEY1	chr11:8703634-8705468	K562	blood:	n/a	n/a
15	MAX	chr11:8703537-8705234	HepG2	liver:	n/a	n/a
16	BHLHE40	chr11:8703592-8705016	K562	blood:	n/a	n/a
17	STAT3	chr11:8704894-8705082	GM12878	blood:	n/a	chr11:8704973-8704981
18	NFATC1	chr11:8703617-8705065	GM12878	blood:	n/a	n/a
19	MYC	chr11:8703640-8705906	K562	blood:	n/a	n/a
20	POLR2A	chr11:8703371-8705075	GM15510	blood:	n/a	n/a
21	SIN3A	chr11:8703615-8705315	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr11:8703058-8706516	MCF-7	breast:	n/a	n/a
23	POLR2A	chr11:8703460-8705160	K562	blood:	n/a	n/a
24	MTA3	chr11:8703154-8705188	GM12878	blood:	n/a	n/a
25	ZBTB33	chr11:8703454-8705284	A549	lung:	n/a	chr11:8704225-8704240 chr11:8704246-8704256
26	POLR2A	chr11:8703294-8705940	H1-hESC	embryonic stem cell:	n/a	n/a
27	MXI1	chr11:8704920-8705285	K562	blood:	n/a	n/a
28	POLR2A	chr11:8702955-8706133	HCT-116	colon:	n/a	n/a
29	KAP1	chr11:8703907-8705049	U2OS	brain:	n/a	n/a
30	POLR2A	chr11:8703141-8706692	GM19099	blood:	n/a	n/a
31	POLR2A	chr11:8702869-8705408	K562	blood:	n/a	n/a
32	REST	chr11:8703445-8705081	H1-neurons	neurons:	n/a	n/a
33	POLR2A	chr11:8703029-8707716	GM12891	blood:	n/a	n/a
34	POLR2A	chr11:8702826-8712230	PFSK-1	brain:	n/a	n/a
35	POLR2A	chr11:8703024-8705855	GM12892	blood:	n/a	n/a
36	POLR2A	chr11:8703065-8711665	GM12878	blood:	n/a	n/a
37	POLR2A	chr11:8703285-8707865	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr11:8703054-8722039	HepG2	liver:	n/a	n/a
39	POLR2A	chr11:8702980-8720607	MCF10A-Er-Src	breast:	n/a	n/a
40	MYC	chr11:8703628-8705342	K562	blood:	n/a	n/a
41	POLR2A	chr11:8703086-8706082	HL-60	blood:	n/a	n/a
42	MYC	chr11:8703243-8705256	NB4	blood:	n/a	n/a
43	MAZ	chr11:8703777-8705159	K562	blood:	n/a	n/a
44	POLR2A	chr11:8703013-8706383	HUVEC	blood vessel:	n/a	n/a
45	IRF1	chr11:8703582-8705099	K562	blood:	n/a	chr11:8704289-8704303 chr11:8703741-8703755 chr11:8703741-8703751 chr11:8704145-8704155
46	POLR2A	chr11:8700198-8712489	PANC-1	pancreas:	n/a	n/a
47	MAX	chr11:8703636-8705194	ECC-1	luminal epithelium:	n/a	n/a
48	STAT5A	chr11:8703136-8705323	GM12878	blood:	n/a	chr11:8704973-8704981
49	POLR2A	chr11:8703192-8707103	GM18505	blood:	n/a	n/a
50	CREB1	chr11:8703830-8704996	HepG2	liver:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:8702870..8705880-chr11:8738952..8743089,6	MCF-7	breast:
2	chr11:8638813..8643565-chr11:8702244..8705036,4	K562	blood:
3	chr11:8701660..8705909-chr11:8738922..8746228,9	MCF-7	breast:
4	chr11:8702711..8705833-chr11:8931238..8933056,3	K562	blood:
5	chr11:8702257..8705886-chr11:8931185..8934379,5	MCF-7	breast:
6	chr1:144533694..144534331-chr11:8704322..8705067,2	Hela-S3	cervix:
7	chr11:8704228..8705954-chr11:9023702..9025627,2	K562	blood:
8	chr11:8704319..8705885-chr11:8789262..8791873,2	MCF-7	breast:
9	chr11:8703102..8705784-chr11:8929556..8931487,2	MCF-7	breast:
10	chr11:8703116..8705137-chr11:8986069..8987859,2	K562	blood:
11	chr11:8703341..8705421-chr14:100549196..100551479,2	MCF-7	breast:
12	chr11:8614018..8615815-chr11:8704377..8705921,2	MCF-7	breast:

No data

Variant related genes	Relation type
RPL27A	TF binding region
SNORA45	TF binding region
SNORA3	TF binding region
ENSG00000166436	Chromatin interaction
ENSG00000175348	Chromatin interaction
ENSG00000130413	Chromatin interaction
ENSG00000166452	Chromatin interaction
ENSG00000201699	Chromatin interaction
ENSG00000255159	Chromatin interaction
ENSG00000166444	Chromatin interaction
ENSG00000254860	Chromatin interaction
ENSG00000196405	Chromatin interaction
ENSG00000175352	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 15 )

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

rs_ID	r²[population]
rs10840105	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10840106	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10840112	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11042041	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2036422	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35104495	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7123653	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7940366	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs2073684	LOC256273	Cis_1M	lymphoblastoid	RTeQTL
rs2073684	TRIM66	cis	Artery Tibial	GTEx
rs2073684	TRIM66	cis	lung	GTEx
rs2073684	ENSG00000166436	cis	multi-tissue	Pritchard
rs2073684	TRIM66	cis	Thyroid	GTEx
rs2073684	TRIM66	cis	Artery Aorta	GTEx
rs2073684	TRIM66	cis	Esophagus Mucosa	GTEx
rs2073684	TRIM66	cis	Skin Sun Exposed Lower leg	GTEx
rs2073684	TRIM66	cis	Adipose Subcutaneous	GTEx
rs2073684	TRIM66	cis	Esophagus Muscularis	GTEx
rs2073684	TRIM66	cis	Muscle Skeletal	GTEx
rs2073684	TRIM66	cis	Heart Left Ventricle	GTEx
rs2073684	TRIM66	cis	Whole Blood	GTEx
rs2073684	TRIM66	Cis_1M	lymphoblastoid	RTeQTL
rs2073684	TRIM66	cis	Nerve Tibial	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8703000-8705000	Active TSS	H1 Cell Line	embryonic stem cell
2	chr11:8703000-8705000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:8703000-8705400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr11:8703200-8705000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:8703200-8705000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr11:8703200-8705000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:8703200-8705000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:8703200-8705000	Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr11:8703200-8705000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr11:8703200-8705200	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr11:8703200-8705200	Active TSS	H9 Cell Line	embryonic stem cell
12	chr11:8703200-8705600	Active TSS	Right Ventricle	heart
13	chr11:8703200-8705600	Active TSS	GM12878-XiMat	blood
14	chr11:8703200-8705600	Active TSS	HSMMtube	muscle
15	chr11:8703200-8705800	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr11:8703400-8705000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:8703400-8705000	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr11:8703400-8705000	Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr11:8703400-8705000	Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr11:8703400-8705000	Active TSS	Muscle Satellite Cultured Cells	--
21	chr11:8703400-8705000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:8703400-8705000	Active TSS	Fetal Kidney	kidney
23	chr11:8703400-8705000	Active TSS	Psoas Muscle	Psoas
24	chr11:8703400-8705000	Active TSS	Stomach Mucosa	stomach
25	chr11:8703400-8705200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:8703400-8705200	Active TSS	Fetal Intestine Small	intestine
27	chr11:8703400-8705200	Active TSS	Lung	lung
28	chr11:8703400-8705200	Active TSS	Pancreas	Pancrea
29	chr11:8703400-8705200	Active TSS	Sigmoid Colon	Sigmoid Colon
30	chr11:8703400-8705400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr11:8703400-8705400	Active TSS	Aorta	Aorta
32	chr11:8703400-8705400	Active TSS	Esophagus	oesophagus
33	chr11:8703400-8705600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr11:8703400-8705600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:8703400-8705600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:8703400-8705600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr11:8703400-8705600	Active TSS	Fetal Intestine Large	intestine
38	chr11:8703400-8705600	Active TSS	Gastric	stomach
39	chr11:8703400-8705600	Active TSS	Ovary	ovary
40	chr11:8703400-8705600	Active TSS	HSMM	muscle
41	chr11:8703400-8705600	Active TSS	NHDF-Ad	bronchial
42	chr11:8703400-8705800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr11:8703400-8705800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr11:8703600-8705000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr11:8703600-8705000	Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr11:8703600-8705000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr11:8703600-8705000	Active TSS	Brain Anterior Caudate	brain
48	chr11:8703600-8705000	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr11:8703600-8705000	Active TSS	Colon Smooth Muscle	Colon
50	chr11:8703600-8705000	Active TSS	Fetal Adrenal Gland	Adrenal Gland

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