Variant report

Variant	rs73577959
Chromosome Location	chr6:143997757-143997758
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	FOXA1	chr6:143997165-143997897	HepG2	liver:	n/a	chr6:143997677-143997689 chr6:143997681-143997693
2	TCF7L2	chr6:143997174-143997773	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr6:143997060-143997803	Hela-S3	cervix:	n/a	chr6:143997291-143997304 chr6:143997291-143997302 chr6:143997293-143997304
4	NFIC	chr6:143996895-143997909	ECC-1	luminal epithelium:	n/a	n/a
5	TCF7L2	chr6:143997428-143997889	HEK293	kidney:	n/a	n/a
6	GATA3	chr6:143996915-143997819	MCF-7	breast:	n/a	n/a
7	FOXM1	chr6:143996869-143998145	ECC-1	luminal epithelium:	n/a	n/a
8	EP300	chr6:143996856-143997961	ECC-1	luminal epithelium:	n/a	chr6:143997495-143997509

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:143997590..144001098-chr6:144164062..144165676,3	K562	blood:

Variant related genes	Relation type
PHACTR2	TF binding region
ENSG00000135521	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs9484788	0.91[AMR][1000 genomes]
rs9484790	0.91[AMR][1000 genomes]
rs9496723	0.91[AMR][1000 genomes]
rs9496726	0.91[AMR][1000 genomes]
rs9496737	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758084	chr6:143916621-144079976	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2759476	chr6:143916621-144079976	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1032369	chr6:143925374-144007513	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv604805	chr6:143930404-144005949	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143994000-143997800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr6:143994000-143998800	Enhancers	Hela-S3	cervix
3	chr6:143994200-143997800	Enhancers	H1 Cell Line	embryonic stem cell
4	chr6:143994200-143998000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:143994200-143998000	Enhancers	Fetal Kidney	kidney
6	chr6:143994200-143998000	Enhancers	NHDF-Ad	bronchial
7	chr6:143994200-143998000	Enhancers	NHLF	lung
8	chr6:143994200-143998200	Enhancers	HMEC	breast
9	chr6:143994200-143998400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr6:143994200-143998600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:143994200-143998600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr6:143994200-143998600	Enhancers	HepG2	liver
13	chr6:143994200-143999000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:143994600-143999000	Weak transcription	Lung	lung
15	chr6:143994800-143999000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr6:143995000-143998800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr6:143995200-143998000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:143995200-143998400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:143995200-143998600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:143995400-143997800	Enhancers	Placenta Amnion	Placenta Amnion
21	chr6:143995400-143998200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:143995400-143998800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr6:143995600-143998600	Enhancers	Fetal Intestine Small	intestine
24	chr6:143995600-143998600	Enhancers	HUVEC	blood vessel
25	chr6:143995800-143998400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:143995800-143998600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr6:143995800-143998600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr6:143995800-143998800	Weak transcription	HSMM	muscle
29	chr6:143995800-143998800	Weak transcription	K562	blood
30	chr6:143996000-143998400	Enhancers	NHEK	skin
31	chr6:143996000-143998600	Weak transcription	Fetal Heart	heart
32	chr6:143996000-143998600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr6:143996000-143998600	Weak transcription	NH-A	brain
34	chr6:143996000-143998800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr6:143996200-143998600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr6:143996200-143998800	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr6:143996200-143998800	Weak transcription	Ovary	ovary
38	chr6:143996200-143999000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:143996200-143999000	Weak transcription	Esophagus	oesophagus
40	chr6:143996200-143999000	Weak transcription	Pancreas	Pancrea
41	chr6:143996200-143999000	Weak transcription	Small Intestine	intestine
42	chr6:143996400-143998400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr6:143996400-143998800	Weak transcription	Liver	Liver
44	chr6:143996600-143999000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr6:143996600-143999000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr6:143996800-143998400	Weak transcription	Fetal Muscle Leg	muscle
47	chr6:143996800-143998600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr6:143996800-143998600	Enhancers	Adipose Nuclei	Adipose
49	chr6:143996800-143998600	Weak transcription	Placenta	Placenta
50	chr6:143996800-143998600	Weak transcription	Fetal Stomach	stomach

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