Variant report

Variant	rs39749
Chromosome Location	chr7:116336947-116336948
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	chr7:116336504-116337162	HCT-116	colon:	n/a	n/a
2	STAT3	chr7:116336869-116337266	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT3	chr7:116336710-116337280	MCF10A-Er-Src	breast:	n/a	chr7:116337264-116337275

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:116335166..116337103-chr7:116348541..116351229,2	MCF-7	breast:
2	7:115929516-115931284..7:116329363-116339031	H1-hESC	embryonic stem cell:	embryo
3	7:115847372-115857098..7:116329363-116339031	Hela-S3	cervix:
4	chr7:116325854..116329921-chr7:116334319..116337151,3	K562	blood:

Variant related genes	Relation type
MET	TF binding region
ENSG00000135269	Chromatin interaction
ENSG00000105971	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs38848	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs38851	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs38854	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs39748	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs39749	CAV2	cis	brain	BrainEAC

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116327000-116340000	Weak transcription	Lung	lung
2	chr7:116327400-116339200	Weak transcription	Fetal Intestine Small	intestine
3	chr7:116328200-116339200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:116328200-116339400	Weak transcription	Pancreas	Pancrea
5	chr7:116328600-116341200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr7:116330600-116342200	Weak transcription	Fetal Lung	lung
7	chr7:116331800-116339200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:116332000-116339000	Weak transcription	Left Ventricle	heart
9	chr7:116332000-116339400	Weak transcription	HSMMtube	muscle
10	chr7:116332000-116355800	Weak transcription	Fetal Muscle Leg	muscle
11	chr7:116333600-116346000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:116333600-116346600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr7:116333800-116351800	Weak transcription	Gastric	stomach
14	chr7:116334000-116339200	Weak transcription	NHLF	lung
15	chr7:116334000-116341000	Strong transcription	A549	lung
16	chr7:116334000-116342400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:116334000-116344600	Weak transcription	NHDF-Ad	bronchial
18	chr7:116334200-116337000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:116334200-116340200	Weak transcription	Fetal Kidney	kidney
20	chr7:116334200-116341400	Strong transcription	Osteobl	bone
21	chr7:116334200-116344000	Weak transcription	Hela-S3	cervix
22	chr7:116334200-116347000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr7:116334200-116347200	Weak transcription	Stomach Mucosa	stomach
24	chr7:116334400-116337000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr7:116335000-116337000	Strong transcription	Liver	Liver
26	chr7:116335000-116337400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr7:116335000-116337800	Strong transcription	HSMM	muscle
28	chr7:116335000-116338200	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr7:116335000-116339000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:116335000-116341400	Strong transcription	HepG2	liver
31	chr7:116335200-116339400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:116335200-116341000	Strong transcription	HMEC	breast
33	chr7:116336200-116337000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:116336200-116339200	Weak transcription	Fetal Stomach	stomach
35	chr7:116336200-116346800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr7:116336400-116339000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr7:116336600-116337200	Enhancers	Psoas Muscle	Psoas
38	chr7:116336600-116337400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr7:116336600-116337800	Weak transcription	HUVEC	blood vessel
40	chr7:116336600-116338000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr7:116336600-116339600	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr7:116336600-116345800	Genic enhancers	NHEK	skin
43	chr7:116336800-116337000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr7:116336800-116337000	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr7:116336800-116337600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:116336800-116337600	Strong transcription	NH-A	brain

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