Variant report

Variant	rs7123653
Chromosome Location	chr11:8722621-8722622
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HDAC2	chr11:8722544-8722915	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr11:8722477-8723056	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr11:8722529-8723738	Hela-S3	cervix:	n/a	n/a
4	POU5F1	chr11:8722417-8722911	H1-hESC	embryonic stem cell:	n/a	n/a
5	TBP	chr11:8722479-8723188	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr11:8722560-8723462	H1-hESC	embryonic stem cell:	n/a	n/a
7	HEY1	chr11:8722611-8722918	K562	blood:	n/a	n/a
8	ATF2	chr11:8722513-8722880	H1-hESC	embryonic stem cell:	n/a	n/a
9	EP300	chr11:8722604-8723171	K562	blood:	n/a	n/a
10	USF1	chr11:8722578-8722916	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAX	chr11:8722570-8722901	H1-hESC	embryonic stem cell:	n/a	n/a
12	MYC	chr11:8722615-8722970	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr11:8722588-8723111	K562	blood:	n/a	n/a
14	SP1	chr11:8722509-8723023	H1-hESC	embryonic stem cell:	n/a	n/a
15	TEAD4	chr11:8722611-8722966	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr11:8722501-8722906	H1-hESC	embryonic stem cell:	n/a	n/a
17	YY1	chr11:8722544-8722866	H1-hESC	embryonic stem cell:	n/a	n/a
18	MYC	chr11:8722612-8723204	K562	blood:	n/a	n/a
19	TBP	chr11:8722498-8723211	K562	blood:	n/a	n/a
20	NANOG	chr11:8722588-8722967	H1-hESC	embryonic stem cell:	n/a	n/a
21	ELF1	chr11:8722606-8723103	K562	blood:	n/a	n/a
22	E2F6	chr11:8722461-8723069	H1-hESC	embryonic stem cell:	n/a	n/a
23	YY1	chr11:8722568-8722999	K562	blood:	n/a	n/a
24	POU2F2	chr11:8722592-8723041	GM12878	blood:	n/a	n/a
25	E2F6	chr11:8722604-8723030	H1-hESC	embryonic stem cell:	n/a	n/a
26	CREB1	chr11:8722609-8723213	H1-hESC	embryonic stem cell:	n/a	n/a
27	MYC	chr11:8722605-8723078	K562	blood:	n/a	n/a
28	POLR2A	chr11:8722444-8723385	K562	blood:	n/a	n/a
29	TCF7L2	chr11:8722525-8722715	Hela-S3	cervix:	n/a	n/a
30	TEAD4	chr11:8722548-8723055	H1-hESC	embryonic stem cell:	n/a	n/a
31	YY1	chr11:8722507-8723014	H1-hESC	embryonic stem cell:	n/a	n/a
32	MAX	chr11:8722613-8722961	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAX	chr11:8722458-8723218	K562	blood:	n/a	n/a
34	TCF12	chr11:8722588-8722897	H1-hESC	embryonic stem cell:	n/a	n/a
35	EP300	chr11:8722573-8722997	H1-hESC	embryonic stem cell:	n/a	n/a
36	SP4	chr11:8722543-8723225	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:8722287..8724924-chr11:8738555..8741145,2	K562	blood:
2	chr11:8720788..8722989-chr11:8731046..8732661,2	MCF-7	breast:
3	chr11:8720712..8722850-chr11:8760590..8762242,2	K562	blood:

No data

Variant related genes	Relation type
ST5	TF binding region
ENSG00000166444	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];0.82[EUR][1000 genomes]
rs10840106	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10840112	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11042041	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2036422	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2073684	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35104495	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7940366	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs7123653	TRIM66	cis	Adipose Subcutaneous	GTEx
rs7123653	TRIM66	cis	Skin Sun Exposed Lower leg	GTEx
rs7123653	LOC256273	Cis_1M	lymphoblastoid	RTeQTL
rs7123653	TRIM66	cis	Heart Left Ventricle	GTEx
rs7123653	TRIM66	Cis_1M	lymphoblastoid	RTeQTL
rs7123653	TRIM66	cis	Esophagus Muscularis	GTEx
rs7123653	TRIM66	cis	Nerve Tibial	GTEx
rs7123653	TRIM66	cis	Muscle Skeletal	GTEx
rs7123653	TRIM66	cis	lung	GTEx
rs7123653	TRIM66	cis	Esophagus Mucosa	GTEx
rs7123653	TRIM66	cis	Thyroid	GTEx
rs7123653	TRIM66	cis	Artery Tibial	GTEx
rs7123653	TRIM66	cis	Whole Blood	GTEx

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8711800-8724200	Weak transcription	Thymus	Thymus
2	chr11:8713200-8730000	Strong transcription	Liver	Liver
3	chr11:8713600-8723400	Strong transcription	Esophagus	oesophagus
4	chr11:8715400-8733600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr11:8716200-8725000	Weak transcription	Fetal Brain Male	brain
6	chr11:8719400-8728600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr11:8719600-8724000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr11:8719600-8737000	Weak transcription	Hela-S3	cervix
9	chr11:8719800-8724200	Enhancers	H1 Cell Line	embryonic stem cell
10	chr11:8720000-8738200	Weak transcription	Fetal Kidney	kidney
11	chr11:8720200-8722800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:8720200-8722800	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:8720200-8722800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:8720200-8724000	Genic enhancers	Fetal Muscle Trunk	muscle
15	chr11:8720200-8731200	Strong transcription	Fetal Intestine Small	intestine
16	chr11:8720400-8722800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr11:8720400-8722800	Enhancers	Brain Substantia Nigra	brain
18	chr11:8720400-8723400	Genic enhancers	Fetal Muscle Leg	muscle
19	chr11:8720400-8723800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr11:8720400-8728800	Weak transcription	Fetal Heart	heart
21	chr11:8720600-8723000	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:8720600-8723800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr11:8720600-8724000	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr11:8720600-8729600	Strong transcription	Fetal Intestine Large	intestine
25	chr11:8720800-8722800	Genic enhancers	HSMM	muscle
26	chr11:8721000-8728800	Weak transcription	Fetal Thymus	thymus
27	chr11:8721200-8723000	Weak transcription	Ovary	ovary
28	chr11:8721200-8723200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr11:8721400-8724000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr11:8721600-8722800	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr11:8721600-8724000	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr11:8721600-8724000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr11:8721600-8729200	Weak transcription	Fetal Brain Female	brain
34	chr11:8721600-8737000	Strong transcription	Lung	lung
35	chr11:8721800-8723200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr11:8721800-8723600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr11:8721800-8724000	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr11:8721800-8724400	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr11:8721800-8731000	Weak transcription	Small Intestine	intestine
40	chr11:8721800-8736200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:8722000-8723400	Weak transcription	Aorta	Aorta
42	chr11:8722000-8723400	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr11:8722000-8723400	Weak transcription	Right Atrium	heart
44	chr11:8722000-8723600	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr11:8722000-8724200	Weak transcription	Colonic Mucosa	Colon
46	chr11:8722000-8725600	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr11:8722000-8725600	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr11:8722000-8728800	Weak transcription	Psoas Muscle	Psoas
49	chr11:8722000-8730400	Strong transcription	Fetal Lung	lung
50	chr11:8722000-8735800	Strong transcription	Placenta Amnion	Placenta Amnion

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