Variant report

Variant	rs67117899
Chromosome Location	chr7:79942388-79942389
allele	A/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	chr7:79942333-79942932	HUVEC	blood vessel:	n/a	n/a
2	GATA2	chr7:79942261-79943111	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
ENSG00000234223	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10954132	0.81[EUR][1000 genomes]
rs11767908	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11769508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12533745	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34072543	1.00[EUR][1000 genomes]
rs55677099	1.00[EUR][1000 genomes]
rs55908064	0.81[EUR][1000 genomes]
rs56186526	1.00[EUR][1000 genomes]
rs56387529	1.00[EUR][1000 genomes]
rs67476226	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67774045	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs68161011	0.81[EUR][1000 genomes]
rs6958379	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6960023	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73153553	0.81[EUR][1000 genomes]
rs73153565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429785	chr7:79589749-80177049	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1024312	chr7:79832637-80004812	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1029180	chr7:79832637-80017560	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79937200-79949000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:79938800-79942400	Enhancers	Primary T cells from cord blood	blood
3	chr7:79939400-79943400	Enhancers	HUVEC	blood vessel
4	chr7:79940000-79942800	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr7:79940800-79943400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:79941000-79942400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr7:79941000-79942800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:79941600-79942800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr7:79941600-79943400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:79941800-79943000	Enhancers	HMEC	breast
11	chr7:79941800-79943400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:79941800-79943800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:79941800-79943800	Enhancers	NHEK	skin
14	chr7:79941800-79946000	Weak transcription	Fetal Intestine Small	intestine
15	chr7:79941800-79946600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:79942000-79942400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr7:79942000-79943000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr7:79942000-79943000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:79942000-79943000	Weak transcription	Gastric	stomach
20	chr7:79942000-79943800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:79942000-79945800	Weak transcription	Fetal Intestine Large	intestine
22	chr7:79942000-79947000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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