Variant report

Variant	rs7940366
Chromosome Location	chr11:8725626-8725627
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:8722655-8726112	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:8725559-8725746	K562	blood:	n/a	n/a
3	POLR2A	chr11:8723881-8726088	K562	blood:	n/a	n/a
4	POLR2A	chr11:8724304-8726069	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr11:8724839-8725730	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr11:8722658-8726169	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr11:8723431-8726117	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:8723990..8726026-chr11:8932554..8934656,2	K562	blood:

Variant related genes	Relation type
ST5	TF binding region
ENSG00000166452	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 25 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10769955	1.00[YRI][hapmap]
rs10769957	1.00[YRI][hapmap]
rs10769971	1.00[YRI][hapmap]
rs10840105	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10840106	0.89[CEU][hapmap];0.94[CHB][hapmap];0.96[CHD][hapmap];0.94[GIH][hapmap];0.93[JPT][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10840112	1.00[ASW][hapmap];0.89[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10840114	1.00[ASW][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap]
rs10840130	1.00[YRI][hapmap]
rs11042041	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11042059	1.00[YRI][hapmap]
rs11042069	1.00[YRI][hapmap]
rs2036422	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2073684	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2316865	1.00[YRI][hapmap]
rs35104495	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4910062	1.00[YRI][hapmap]
rs7123653	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs905290	1.00[YRI][hapmap]

mRNA abundance (count:25)

SNP	Gene	Cis/trans	Tissue	Source
rs7940366	STK33	cis	cerebellum	SCAN
rs7940366	TRIM66	cis	Skin Sun Exposed Lower leg	GTEx
rs7940366	TRIM66	cis	Esophagus Mucosa	GTEx
rs7940366	TRIM66	cis	parietal	SCAN
rs7940366	TRIM66	cis	lung	GTEx
rs7940366	TRIM66	cis	Nerve Tibial	GTEx
rs7940366	TRIM66	cis	Stomach	GTEx
rs7940366	TRIM66	cis	Whole Blood	GTEx
rs7940366	TRIM66	cis	Adipose Subcutaneous	GTEx
rs7940366	SNORA45	cis	cerebellum	SCAN
rs7940366	ADM	cis	cerebellum	SCAN
rs7940366	TRIM66	cis	Heart Left Ventricle	GTEx
rs7940366	TRIM66	cis	Esophagus Muscularis	GTEx
rs7940366	SNORA45	cis	parietal	SCAN
rs7940366	OR52E4	cis	cerebellum	SCAN
rs7940366	OR52A1	cis	parietal	SCAN
rs7940366	TRIM66	cis	Thyroid	GTEx
rs7940366	RPL27A	cis	cerebellum	SCAN
rs7940366	TRIM66	cis	Muscle Skeletal	GTEx
rs7940366	RPL27A	cis	parietal	SCAN
rs7940366	TRIM66	cis	Artery Tibial	GTEx
rs7940366	ST5	cis	cerebellum	SCAN
rs7940366	TRIM66	cis	lymphoblastoid	seeQTL
rs7940366	ST5	cis	parietal	SCAN
rs7940366	ASCL3	cis	parietal	SCAN

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8713200-8730000	Strong transcription	Liver	Liver
2	chr11:8715400-8733600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:8719400-8728600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr11:8719600-8737000	Weak transcription	Hela-S3	cervix
5	chr11:8720000-8738200	Weak transcription	Fetal Kidney	kidney
6	chr11:8720200-8731200	Strong transcription	Fetal Intestine Small	intestine
7	chr11:8720400-8728800	Weak transcription	Fetal Heart	heart
8	chr11:8720600-8729600	Strong transcription	Fetal Intestine Large	intestine
9	chr11:8721000-8728800	Weak transcription	Fetal Thymus	thymus
10	chr11:8721600-8729200	Weak transcription	Fetal Brain Female	brain
11	chr11:8721600-8737000	Strong transcription	Lung	lung
12	chr11:8721800-8731000	Weak transcription	Small Intestine	intestine
13	chr11:8721800-8736200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:8722000-8728800	Weak transcription	Psoas Muscle	Psoas
15	chr11:8722000-8730400	Strong transcription	Fetal Lung	lung
16	chr11:8722000-8735800	Strong transcription	Placenta Amnion	Placenta Amnion
17	chr11:8722000-8738800	Weak transcription	A549	lung
18	chr11:8722200-8726600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:8722200-8726600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr11:8722200-8726800	Weak transcription	Stomach Mucosa	stomach
21	chr11:8722200-8726800	Weak transcription	NH-A	brain
22	chr11:8722200-8727200	Weak transcription	Brain Hippocampus Middle	brain
23	chr11:8722200-8728200	Strong transcription	Colon Smooth Muscle	Colon
24	chr11:8722200-8728800	Strong transcription	Fetal Stomach	stomach
25	chr11:8722200-8730600	Strong transcription	Placenta	Placenta
26	chr11:8722200-8731000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:8722200-8731000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr11:8722200-8735400	Weak transcription	HUVEC	blood vessel
29	chr11:8722400-8729400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:8722400-8738800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:8722600-8725800	Strong transcription	Rectal Smooth Muscle	rectum
32	chr11:8722600-8728400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:8722600-8728800	Weak transcription	HepG2	liver
34	chr11:8722600-8729400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:8722600-8729600	Strong transcription	NHLF	lung
36	chr11:8722600-8730400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr11:8722800-8727000	Strong transcription	Right Ventricle	heart
38	chr11:8722800-8730600	Strong transcription	HSMM	muscle
39	chr11:8722800-8730800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr11:8722800-8730800	Weak transcription	HMEC	breast
41	chr11:8722800-8735600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:8722800-8739200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:8723000-8729000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:8723000-8729000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:8723200-8727800	Strong transcription	NHEK	skin
46	chr11:8723200-8728000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr11:8723200-8728600	Weak transcription	Brain Germinal Matrix	brain
48	chr11:8723200-8739200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr11:8723400-8725800	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr11:8723400-8726000	Strong transcription	Pancreas	Pancrea

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