Variant report

Variant	rs594783
Chromosome Location	chr17:38666240-38666241
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:38665184..38666718-chr17:38673258..38675871,2	K562	blood:
2	chr17:38661625..38664406-chr17:38665546..38668023,2	MCF-7	breast:
3	chr17:38666195..38668394-chr17:38679733..38682275,2	MCF-7	breast:
4	chr17:38661517..38663514-chr17:38666033..38667787,2	MCF-7	breast:
5	chr17:38640622..38642550-chr17:38663803..38666620,2	K562	blood:

Variant related genes	Relation type
ENSG00000266088	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs28493507	1.00[EUR][1000 genomes]
rs4092050	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs475298	1.00[CHB][hapmap]
rs4890086	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4890088	0.85[YRI][hapmap]
rs499490	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs596960	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs60411936	0.87[EUR][1000 genomes]
rs6503543	1.00[MEX][hapmap]
rs7212543	1.00[CEU][hapmap]
rs7219622	1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap]
rs7221799	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap]
rs73310952	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8066508	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs8069091	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs8077724	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs896136	1.00[MEX][hapmap]
rs921394	1.00[CHB][hapmap]
rs9901908	1.00[CHB][hapmap]

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	nsv1058185	chr17:38629339-38689908	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38656600-38666400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr17:38656600-38668000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr17:38656800-38668400	Weak transcription	Gastric	stomach
4	chr17:38663400-38667800	Weak transcription	Fetal Muscle Leg	muscle
5	chr17:38664800-38666400	Enhancers	Adipose Nuclei	Adipose
6	chr17:38665000-38667000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr17:38665200-38669000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr17:38665800-38668000	Weak transcription	K562	blood
9	chr17:38665800-38668600	Enhancers	Psoas Muscle	Psoas
10	chr17:38665800-38670200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr17:38666000-38666400	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr17:38666000-38666600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr17:38666000-38666600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr17:38666000-38666600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr17:38666000-38666600	Flanking Active TSS	NHEK	skin
16	chr17:38666000-38666800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr17:38666000-38666800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr17:38666000-38666800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr17:38666000-38666800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr17:38666000-38666800	Enhancers	Left Ventricle	heart
21	chr17:38666000-38667000	Enhancers	H1 Cell Line	embryonic stem cell
22	chr17:38666000-38667000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr17:38666000-38667000	Flanking Active TSS	A549	lung
24	chr17:38666000-38667400	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr17:38666000-38667400	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr17:38666000-38667400	Enhancers	Esophagus	oesophagus
27	chr17:38666000-38667400	Flanking Active TSS	Hela-S3	cervix
28	chr17:38666000-38668200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr17:38666000-38668200	Bivalent Enhancer	HepG2	liver
30	chr17:38666000-38668800	Enhancers	Placenta Amnion	Placenta Amnion
31	chr17:38666000-38669000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr17:38666000-38669000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr17:38666000-38669000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr17:38666000-38669600	Enhancers	NH-A	brain
35	chr17:38666000-38670200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr17:38666200-38666400	Enhancers	HMEC	breast
37	chr17:38666200-38666800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr17:38666200-38666800	Enhancers	Pancreas	Pancrea
39	chr17:38666200-38666800	Active TSS	Spleen	Spleen
40	chr17:38666200-38667000	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr17:38666200-38667200	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr17:38666200-38669000	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr17:38666200-38670000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr17:38666200-38670600	Enhancers	Placenta	Placenta

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