Variant report

Variant	rs10840114
Chromosome Location	chr11:8736695-8736696
allele	C/T
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	chr11:8736475-8736706	HUVEC	blood vessel:	n/a	n/a
2	FOS	chr11:8736228-8736744	HUVEC	blood vessel:	n/a	chr11:8736413-8736423 chr11:8736414-8736423 chr11:8736417-8736425 chr11:8736413-8736422

No.	Distal block	Cell Line	Cell type
1	chr11:8728472..8730184-chr11:8736680..8739477,2	K562	blood:
2	chr11:8734555..8736932-chr11:8744391..8746005,2	K562	blood:
3	chr11:8731037..8736901-chr11:8737909..8742504,5	K562	blood:
4	chr11:8735898..8738134-chr11:8739854..8742653,2	MCF-7	breast:

Variant related genes	Relation type
ST5	TF binding region
ENSG00000166444	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 22 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10769955	1.00[YRI][hapmap]
rs10769957	1.00[YRI][hapmap]
rs10769971	1.00[YRI][hapmap]
rs10840112	1.00[ASW][hapmap]
rs10840130	1.00[YRI][hapmap]
rs11042059	1.00[YRI][hapmap]
rs11042069	1.00[YRI][hapmap]
rs2316865	1.00[YRI][hapmap]
rs4910062	1.00[YRI][hapmap]
rs7940366	1.00[ASW][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap]
rs905290	1.00[YRI][hapmap]

mRNA abundance (count:22)

SNP	Gene	Cis/trans	Tissue	Source
rs10840114	TRIM66	cis	Whole Blood	GTEx
rs10840114	OR52E8	cis	cerebellum	SCAN
rs10840114	TRIM66	cis	Esophagus Mucosa	GTEx
rs10840114	STK33	cis	cerebellum	SCAN
rs10840114	TRIM66	cis	lung	GTEx
rs10840114	TRIM66	cis	Nerve Tibial	GTEx
rs10840114	TRIM66	cis	Skin Sun Exposed Lower leg	GTEx
rs10840114	TRIM66	cis	Artery Tibial	GTEx
rs10840114	TRIM66	cis	Heart Left Ventricle	GTEx
rs10840114	TRIM66	cis	Adipose Subcutaneous	GTEx
rs10840114	ASCL3	cis	parietal	SCAN
rs10840114	RPL27A	cis	parietal	SCAN
rs10840114	ST5	cis	parietal	SCAN
rs10840114	SNORA45	cis	parietal	SCAN
rs10840114	SNORA45	cis	cerebellum	SCAN
rs10840114	ST5	cis	cerebellum	SCAN
rs10840114	OR52E4	cis	cerebellum	SCAN
rs10840114	TRIM66	cis	Esophagus Muscularis	GTEx
rs10840114	OR52A1	cis	parietal	SCAN
rs10840114	RPL27A	cis	cerebellum	SCAN
rs10840114	TRIM66	cis	Muscle Skeletal	GTEx
rs10840114	TRIM66	cis	Thyroid	GTEx

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8719600-8737000	Weak transcription	Hela-S3	cervix
2	chr11:8720000-8738200	Weak transcription	Fetal Kidney	kidney
3	chr11:8721600-8737000	Strong transcription	Lung	lung
4	chr11:8722000-8738800	Weak transcription	A549	lung
5	chr11:8722400-8738800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:8722800-8739200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:8723200-8739200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:8723800-8745200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:8724000-8736800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr11:8725400-8738800	Strong transcription	Gastric	stomach
11	chr11:8728400-8740000	Genic enhancers	Fetal Muscle Trunk	muscle
12	chr11:8730000-8739600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr11:8730400-8739000	Weak transcription	Fetal Thymus	thymus
14	chr11:8731000-8738600	Weak transcription	Fetal Brain Male	brain
15	chr11:8731000-8738800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr11:8731000-8740000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr11:8731200-8739000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:8731200-8739200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr11:8731200-8739200	Strong transcription	Colonic Mucosa	Colon
20	chr11:8731400-8737600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr11:8731400-8738000	Weak transcription	Stomach Mucosa	stomach
22	chr11:8731400-8738800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr11:8731400-8738800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr11:8731600-8738400	Weak transcription	Fetal Heart	heart
25	chr11:8731600-8738800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:8731600-8738800	Weak transcription	Small Intestine	intestine
27	chr11:8731600-8741000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:8731800-8737400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:8731800-8738600	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr11:8731800-8739400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:8732000-8737000	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr11:8732000-8738400	Strong transcription	NHEK	skin
33	chr11:8732000-8739000	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr11:8732200-8737600	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr11:8732800-8739600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr11:8734200-8737000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr11:8734400-8739000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:8734400-8740000	Genic enhancers	Fetal Muscle Leg	muscle
39	chr11:8734600-8737000	Genic enhancers	Fetal Intestine Large	intestine
40	chr11:8734600-8737800	Enhancers	Right Ventricle	heart
41	chr11:8734600-8739200	Genic enhancers	Liver	Liver
42	chr11:8734800-8746800	Genic enhancers	Fetal Intestine Small	intestine
43	chr11:8735200-8736800	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr11:8735200-8738800	Genic enhancers	Stomach Smooth Muscle	stomach
45	chr11:8735200-8739400	Genic enhancers	Esophagus	oesophagus
46	chr11:8735400-8737000	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr11:8735400-8737000	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr11:8735400-8737800	Genic enhancers	Spleen	Spleen
49	chr11:8735400-8738800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr11:8735400-8739200	Enhancers	HUVEC	blood vessel

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