Variant report

Variant	rs73537868
Chromosome Location	chr8:11558646-11558647
allele	G/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	SUZ12	chr8:11553024-11563323	NT2-D1	testis:	n/a	n/a
2	POLR2A	chr8:11557376-11558752	H1-neurons	neurons:	n/a	n/a
3	TCF12	chr8:11558492-11558664	H1-hESC	embryonic stem cell:	n/a	n/a
4	SP1	chr8:11558145-11558885	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTBP2	chr8:11557766-11559289	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr8:11557415-11558790	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11537885..11539518-chr8:11556542..11558911,2	K562	blood:

Variant related genes	Relation type
GATA4	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs2264310	1.00[AMR][1000 genomes]
rs58313162	1.00[AMR][1000 genomes]
rs61574109	0.85[AFR][1000 genomes]
rs7010515	1.00[AMR][1000 genomes]
rs7014537	1.00[AMR][1000 genomes]
rs73531781	1.00[AMR][1000 genomes]
rs73535986	1.00[AMR][1000 genomes]
rs73535989	1.00[AMR][1000 genomes]
rs73535993	1.00[AMR][1000 genomes]
rs73537878	0.95[AFR][1000 genomes]
rs73537880	0.95[AFR][1000 genomes]
rs73545763	1.00[AMR][1000 genomes]
rs73545769	1.00[AMR][1000 genomes]
rs7818491	1.00[AMR][1000 genomes]
rs7823403	1.00[AMR][1000 genomes]
rs7824489	1.00[AMR][1000 genomes]
rs7837707	1.00[AMR][1000 genomes]
rs8191524	1.00[AMR][1000 genomes]
rs8191532	1.00[AMR][1000 genomes]
rs8191533	1.00[AMR][1000 genomes]
rs8191580	1.00[AMR][1000 genomes]
rs8191628	1.00[AMR][1000 genomes]
rs8191653	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1017865	chr8:11377795-11579954	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11555600-11560200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:11557400-11560000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
3	chr8:11557600-11559400	Bivalent/Poised TSS	Fetal Stomach	stomach
4	chr8:11557600-11559800	Bivalent/Poised TSS	Stomach Mucosa	stomach
5	chr8:11557800-11558800	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:11557800-11559400	Enhancers	Pancreas	Pancrea
7	chr8:11557800-11559800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:11557800-11560000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
9	chr8:11557800-11561400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
10	chr8:11557800-11563200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr8:11558200-11559400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:11558200-11559400	Weak transcription	Gastric	stomach
13	chr8:11558200-11559600	Active TSS	Right Ventricle	heart
14	chr8:11558200-11560000	Active TSS	Right Atrium	heart
15	chr8:11558200-11560800	Active TSS	Ovary	ovary
16	chr8:11558200-11562800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
17	chr8:11558400-11559600	Active TSS	Duodenum Mucosa	Duodenum
18	chr8:11558400-11559600	Active TSS	Left Ventricle	heart
19	chr8:11558600-11559000	Active TSS	Fetal Heart	heart
20	chr8:11558600-11559000	Flanking Bivalent TSS/Enh	HepG2	liver

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