Variant report

Variant	rs2715556
Chromosome Location	chr17:38536983-38536984
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:38534326..38537314-chr17:38715241..38717538,2	K562	blood:
2	chr17:38533511..38535378-chr17:38536706..38538639,2	K562	blood:
3	chr17:38535520..38539841-chr17:38568044..38570413,3	K562	blood:
4	chr17:38535520..38538473-chr17:38568744..38570413,2	K562	blood:
5	chr17:38534481..38537435-chr17:38573084..38574755,2	K562	blood:

Variant related genes	Relation type
ENSG00000131747	Chromatin interaction
ENSG00000126353	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11078945	0.96[YRI][hapmap]
rs11867902	0.85[YRI][hapmap]
rs11871146	0.83[YRI][hapmap]
rs1530363	0.87[CEU][hapmap];0.98[GIH][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap]
rs1662574	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16965783	0.81[CHD][hapmap];0.95[GIH][hapmap];0.89[TSI][hapmap]
rs2586112	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.95[ASN][1000 genomes]
rs2715557	0.94[ASN][1000 genomes]
rs471692	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.96[TSI][hapmap];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs473198	0.98[GIH][hapmap];0.93[TSI][hapmap]
rs477220	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs505633	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs506728	0.81[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs510336	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs517047	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs525812	0.87[CEU][hapmap]
rs532299	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs558068	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833445	chr17:38466474-38637969	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv908223	chr17:38530799-38609187	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38521400-38541800	Weak transcription	A549	lung
2	chr17:38523800-38546200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr17:38531400-38542600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr17:38531400-38543800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr17:38531600-38543000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr17:38531600-38543400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr17:38531600-38544600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr17:38531600-38545000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr17:38531800-38544000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr17:38532600-38544400	Weak transcription	HSMM	muscle
11	chr17:38533400-38542400	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr17:38533600-38542400	Weak transcription	Dnd41	blood
13	chr17:38533600-38549600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr17:38533800-38542200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr17:38533800-38544400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr17:38533800-38544400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr17:38534000-38543800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr17:38535200-38546400	Weak transcription	Thymus	Thymus
19	chr17:38535400-38538000	Enhancers	HepG2	liver
20	chr17:38536000-38544000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr17:38536600-38540200	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr17:38536800-38537400	Flanking Active TSS	K562	blood
23	chr17:38536800-38562000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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