Variant report

Variant	rs193686
Chromosome Location	chr7:116431427-116431428
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:115861595-115870968..7:116430464-116433150	GM12878	blood:
2	7:115847372-115857098..7:116430464-116433150	H1-hESC	embryonic stem cell:	embryo
3	7:115890993-115892266..7:116430464-116433150	H1-hESC	embryonic stem cell:	embryo
4	chr7:116420793..116424066-chr7:116430514..116433680,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135269	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10215153	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11770163	0.90[JPT][hapmap];0.83[YRI][hapmap];0.87[ASN][1000 genomes]
rs1356	0.89[YRI][hapmap]
rs1621	0.82[ASW][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.80[TSI][hapmap];0.80[YRI][hapmap];0.94[ASN][1000 genomes]
rs28896	0.80[AFR][1000 genomes]
rs38857	0.89[GIH][hapmap]
rs41741	0.82[ASW][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.80[TSI][hapmap];0.80[YRI][hapmap];0.94[ASN][1000 genomes]
rs41750	0.80[YRI][hapmap]
rs41776	0.89[YRI][hapmap]
rs41778	0.93[YRI][hapmap]
rs41786	0.93[YRI][hapmap]
rs41791	0.93[YRI][hapmap]
rs41793	0.93[YRI][hapmap]
rs7803820	0.84[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831107	chr7:116414734-116649466	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs193686	MET	cis	Artery Aorta	GTEx
rs193686	KCND2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116418000-116437600	Weak transcription	Spleen	Spleen
2	chr7:116421800-116435800	Weak transcription	Aorta	Aorta
3	chr7:116421800-116444000	Weak transcription	Esophagus	oesophagus
4	chr7:116422000-116435800	Weak transcription	Placenta	Placenta
5	chr7:116423000-116439000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr7:116423000-116442600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:116423200-116432200	Strong transcription	NHEK	skin
8	chr7:116423200-116435800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:116423200-116438000	Weak transcription	Adipose Nuclei	Adipose
10	chr7:116423400-116432600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr7:116424000-116440800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:116424200-116432600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr7:116424200-116440600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:116424200-116445400	Weak transcription	Left Ventricle	heart
15	chr7:116424400-116434400	Weak transcription	Hela-S3	cervix
16	chr7:116424600-116434400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr7:116425000-116440800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:116425800-116435600	Weak transcription	Fetal Stomach	stomach
19	chr7:116426200-116440800	Weak transcription	HSMMtube	muscle
20	chr7:116426400-116434400	Weak transcription	Fetal Muscle Leg	muscle
21	chr7:116427000-116440800	Weak transcription	NHDF-Ad	bronchial
22	chr7:116427200-116432600	Strong transcription	A549	lung
23	chr7:116427200-116434600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr7:116427200-116437400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:116427400-116432200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr7:116427400-116433400	Weak transcription	Fetal Intestine Small	intestine
27	chr7:116427400-116434600	Weak transcription	HUVEC	blood vessel
28	chr7:116427400-116440200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr7:116427400-116445200	Weak transcription	Pancreas	Pancrea
30	chr7:116427600-116435600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr7:116427800-116435600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr7:116427800-116435600	Weak transcription	Fetal Muscle Trunk	muscle
33	chr7:116429000-116434000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr7:116429000-116436400	Weak transcription	HepG2	liver
35	chr7:116429200-116434000	Weak transcription	Stomach Mucosa	stomach
36	chr7:116429600-116434200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr7:116429600-116434200	Weak transcription	HSMM	muscle
38	chr7:116429600-116441200	Weak transcription	Fetal Lung	lung
39	chr7:116429800-116434400	Weak transcription	Liver	Liver
40	chr7:116430200-116432800	Weak transcription	NH-A	brain
41	chr7:116430200-116435600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:116430200-116436000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr7:116430600-116431600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:116430800-116435400	Weak transcription	Osteobl	bone
45	chr7:116430800-116435600	Weak transcription	HMEC	breast
46	chr7:116430800-116440000	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr7:116431000-116432200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr7:116431000-116434200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr7:116431000-116435800	Weak transcription	Psoas Muscle	Psoas
50	chr7:116431400-116432200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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