Variant report

Variant	rs73712957
Chromosome Location	chr8:130799800-130799801
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	FOS	chr8:130799245-130800059	MCF10A-Er-Src	breast:	n/a	chr8:130799760-130799769
2	FOS	chr8:130798758-130800148	MCF10A-Er-Src	breast:	n/a	chr8:130799760-130799769
3	NFIC	chr8:130799691-130800203	ECC-1	luminal epithelium:	n/a	n/a
4	GATA2	chr8:130798639-130799913	HUVEC	blood vessel:	n/a	chr8:130799761-130799770 chr8:130798921-130798931
5	STAT3	chr8:130798710-130800095	MCF10A-Er-Src	breast:	n/a	chr8:130799390-130799399 chr8:130799387-130799401 chr8:130799389-130799398 chr8:130799388-130799399
6	FOS	chr8:130798714-130799992	HUVEC	blood vessel:	n/a	chr8:130799760-130799769
7	FOS	chr8:130798784-130800089	MCF10A-Er-Src	breast:	n/a	chr8:130799760-130799769
8	POLR2A	chr8:130798669-130800042	MCF10A-Er-Src	breast:	n/a	n/a
9	STAT3	chr8:130798731-130800157	MCF10A-Er-Src	breast:	n/a	chr8:130799390-130799399 chr8:130799387-130799401 chr8:130799389-130799398 chr8:130799388-130799399
10	STAT3	chr8:130798764-130800076	MCF10A-Er-Src	breast:	n/a	chr8:130799390-130799399 chr8:130799387-130799401 chr8:130799389-130799398 chr8:130799388-130799399
11	STAT3	chr8:130798733-130800147	MCF10A-Er-Src	breast:	n/a	chr8:130799390-130799399 chr8:130799387-130799401 chr8:130799389-130799398 chr8:130799388-130799399
12	FOSL1	chr8:130798736-130799812	HCT-116	colon:	n/a	chr8:130799760-130799769
13	STAT3	chr8:130798851-130800095	Hela-S3	cervix:	n/a	chr8:130799390-130799399 chr8:130799387-130799401 chr8:130799389-130799398 chr8:130799388-130799399
14	EP300	chr8:130799025-130800118	Hela-S3	cervix:	n/a	n/a
15	E2F4	chr8:130799262-130800106	MCF10A-Er-Src	breast:	n/a	n/a
16	MYC	chr8:130798959-130800113	MCF10A-Er-Src	breast:	n/a	n/a
17	GTF3C2	chr8:130799169-130800010	Hela-S3	cervix:	n/a	n/a
18	NFIC	chr8:130799796-130800251	ECC-1	luminal epithelium:	n/a	n/a
19	POLR2A	chr8:130798667-130799978	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr8:130798803-130799993	MCF10A-Er-Src	breast:	n/a	chr8:130799760-130799769
21	CEBPB	chr8:130798793-130800166	Hela-S3	cervix:	n/a	chr8:130799923-130799934 chr8:130799436-130799447

Variant related genes	Relation type
GSDMC	TF binding region

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10087750	1.00[EUR][1000 genomes]
rs10090126	1.00[EUR][1000 genomes]
rs10091204	1.00[EUR][1000 genomes]
rs10091754	1.00[EUR][1000 genomes]
rs10093443	1.00[EUR][1000 genomes]
rs10095752	1.00[EUR][1000 genomes]
rs10097321	1.00[EUR][1000 genomes]
rs10098794	1.00[EUR][1000 genomes]
rs10101179	1.00[EUR][1000 genomes]
rs10102037	1.00[EUR][1000 genomes]
rs10108374	1.00[EUR][1000 genomes]
rs10283332	1.00[EUR][1000 genomes]
rs11984716	1.00[EUR][1000 genomes]
rs12334601	1.00[EUR][1000 genomes]
rs16904147	1.00[EUR][1000 genomes]
rs16904151	1.00[EUR][1000 genomes]
rs1871943	1.00[EUR][1000 genomes]
rs28380012	1.00[EUR][1000 genomes]
rs28417973	1.00[EUR][1000 genomes]
rs28472437	1.00[EUR][1000 genomes]
rs28520393	1.00[EUR][1000 genomes]
rs28533697	1.00[EUR][1000 genomes]
rs28550585	1.00[EUR][1000 genomes]
rs28578248	1.00[EUR][1000 genomes]
rs28593681	1.00[EUR][1000 genomes]
rs28633939	1.00[EUR][1000 genomes]
rs28656330	1.00[EUR][1000 genomes]
rs28682337	1.00[EUR][1000 genomes]
rs28685780	1.00[EUR][1000 genomes]
rs28795370	1.00[EUR][1000 genomes]
rs55662234	1.00[EUR][1000 genomes]
rs55755123	1.00[EUR][1000 genomes]
rs55864361	1.00[EUR][1000 genomes]
rs56770303	1.00[EUR][1000 genomes]
rs58136260	1.00[EUR][1000 genomes]
rs59372581	1.00[EUR][1000 genomes]
rs59501802	1.00[EUR][1000 genomes]
rs59799475	1.00[EUR][1000 genomes]
rs60229064	1.00[EUR][1000 genomes]
rs60282920	1.00[EUR][1000 genomes]
rs60366798	1.00[EUR][1000 genomes]
rs60403203	1.00[EUR][1000 genomes]
rs61417675	1.00[EUR][1000 genomes]
rs6999729	1.00[EUR][1000 genomes]
rs6999887	1.00[EUR][1000 genomes]
rs7011549	1.00[EUR][1000 genomes]
rs7013939	1.00[EUR][1000 genomes]
rs73712950	1.00[EUR][1000 genomes]
rs73712955	1.00[EUR][1000 genomes]
rs73712989	1.00[EUR][1000 genomes]
rs7812685	1.00[EUR][1000 genomes]
rs7812863	1.00[EUR][1000 genomes]
rs7814585	1.00[EUR][1000 genomes]
rs7825122	1.00[EUR][1000 genomes]
rs7831443	1.00[EUR][1000 genomes]
rs9693205	1.00[EUR][1000 genomes]
rs9886600	1.00[EUR][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	nsv428524	chr8:130731660-130894467	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130796400-130799800	Active TSS	Psoas Muscle	Psoas
2	chr8:130798400-130799800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr8:130798400-130800000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:130798400-130800000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr8:130798600-130800000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:130798600-130800000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:130798600-130800000	Enhancers	Osteobl	bone
8	chr8:130798800-130799800	Flanking Active TSS	Hela-S3	cervix
9	chr8:130798800-130799800	Flanking Active TSS	HMEC	breast
10	chr8:130798800-130799800	Flanking Active TSS	HUVEC	blood vessel
11	chr8:130798800-130800000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:130798800-130800200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:130798800-130800200	Flanking Active TSS	NHEK	skin
14	chr8:130799000-130799800	Enhancers	HSMM	muscle
15	chr8:130799000-130799800	Enhancers	NHDF-Ad	bronchial
16	chr8:130799200-130799800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:130799200-130800000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:130799200-130800200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:130799600-130800000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr8:130799600-130800000	Enhancers	HSMMtube	muscle
21	chr8:130799600-130800000	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr8:130799800-130800000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:130799800-130800000	Enhancers	Hela-S3	cervix
24	chr8:130799800-130800000	Enhancers	HMEC	breast
25	chr8:130799800-130800200	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr8:130799800-130800600	Enhancers	HUVEC	blood vessel

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