Variant report

Variant	rs7800249
Chromosome Location	chr7:116525501-116525502
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:116509063..116511158-chr7:116524943..116526925,2	MCF-7	breast:
2	chr7:116515132..116520352-chr7:116521244..116527932,11	K562	blood:
3	chr7:116522756..116525769-chr7:116533074..116536831,3	K562	blood:

Variant related genes	Relation type
ENSG00000235945	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11977452	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12537143	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12665999	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12666016	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2074025	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2214168	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6947485	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7778381	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7803820	0.83[EUR][1000 genomes]
rs7807976	0.82[EUR][1000 genomes]
rs9649395	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9649396	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9649397	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9791495	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7800249	MET	cis	Artery Aorta	GTEx

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116503800-116554400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:116504400-116528800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr7:116504400-116533000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:116504600-116540800	Weak transcription	Fetal Kidney	kidney
5	chr7:116505000-116533600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr7:116505000-116537400	Weak transcription	Brain Germinal Matrix	brain
7	chr7:116506000-116529200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:116506000-116554600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:116507600-116528000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr7:116511200-116528800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr7:116511400-116528000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr7:116511400-116554600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:116512000-116545400	Weak transcription	NHLF	lung
14	chr7:116512200-116529400	Weak transcription	Osteobl	bone
15	chr7:116513200-116528400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:116513600-116528600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr7:116514200-116528200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr7:116514400-116528000	Weak transcription	HSMM	muscle
19	chr7:116514400-116530600	Weak transcription	HMEC	breast
20	chr7:116514400-116531600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr7:116514600-116525600	Weak transcription	A549	lung
22	chr7:116514600-116537800	Weak transcription	NHEK	skin
23	chr7:116514800-116526400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr7:116515400-116559200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr7:116516800-116526600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr7:116516800-116551200	Weak transcription	Brain Angular Gyrus	brain
27	chr7:116517000-116526400	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr7:116517000-116528000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr7:116517000-116529200	Weak transcription	NH-A	brain
30	chr7:116517200-116528000	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr7:116517200-116528200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr7:116517200-116531000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr7:116517200-116531000	Weak transcription	Hela-S3	cervix
34	chr7:116517200-116533000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:116517200-116538000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:116517200-116554600	Weak transcription	Esophagus	oesophagus
37	chr7:116517600-116525600	Weak transcription	Right Ventricle	heart
38	chr7:116517600-116528200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:116517600-116529000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr7:116517600-116556600	Weak transcription	Psoas Muscle	Psoas
41	chr7:116517800-116525600	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr7:116517800-116528200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr7:116517800-116532200	Weak transcription	Fetal Lung	lung
44	chr7:116518000-116525800	Weak transcription	Ovary	ovary
45	chr7:116518000-116528800	Weak transcription	Primary T cells from cord blood	blood
46	chr7:116518200-116525600	Weak transcription	Stomach Mucosa	stomach
47	chr7:116518800-116525600	Weak transcription	Right Atrium	heart
48	chr7:116518800-116525800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr7:116518800-116526400	Weak transcription	Brain Anterior Caudate	brain
50	chr7:116518800-116526400	Weak transcription	Brain Substantia Nigra	brain

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