Variant report

Variant	rs2898295
Chromosome Location	chr8:11595969-11595970
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:11594028..11596357-chr8:11603341..11605570,2	K562	blood:
2	chr8:11426984..11428613-chr8:11595138..11596810,2	K562	blood:
3	chr8:11595827..11599047-chr8:11599477..11602717,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10503426	0.82[MEX][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes]
rs11250160	0.82[CHB][hapmap];0.84[JPT][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11250162	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11250163	0.85[CEU][hapmap];0.85[GIH][hapmap];0.82[MEX][hapmap];0.89[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12541318	0.82[MEX][hapmap]
rs13259242	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34421088	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34962960	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35726503	0.94[ASN][1000 genomes]
rs35928010	0.94[ASN][1000 genomes]
rs6983129	0.90[CHD][hapmap];0.84[JPT][hapmap];0.91[MEX][hapmap];0.86[ASN][1000 genomes]
rs7838131	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
3	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
4	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
5	nsv1028229	chr8:11575762-11805961	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv539475	chr8:11575762-11805961	Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv428514	chr8:11580381-11765706	Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv916483	chr8:11590294-11672038	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs2898295	DEFB134	cis	parietal	SCAN
rs2898295	C8orf5	Cis_1M	lymphoblastoid	RTeQTL
rs2898295	FDFT1	cis	multi-tissue	Pritchard
rs2898295	C8orf13	cis	multi-tissue	Pritchard
rs2898295	CTSB	cis	cerebellum	SCAN
rs2898295	BLK	Cis_1M	lymphoblastoid	RTeQTL
rs2898295	MFHAS1	cis	cerebellum	SCAN
rs2898295	BLK	cis	parietal	SCAN
rs2898295	FLJ10661	cis	cerebellum	SCAN
rs2898295	PRSS55	cis	cerebellum	SCAN
rs2898295	DEFB134	cis	cerebellum	SCAN
rs2898295	CLDN23	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11591800-11597400	Enhancers	Fetal Heart	heart
2	chr8:11593400-11597800	Enhancers	Placenta	Placenta
3	chr8:11593400-11601400	Genic enhancers	Fetal Intestine Small	intestine
4	chr8:11593600-11596200	Enhancers	Ovary	ovary
5	chr8:11593600-11598000	Enhancers	Left Ventricle	heart
6	chr8:11593600-11599200	Enhancers	Liver	Liver
7	chr8:11593800-11597200	Enhancers	Right Ventricle	heart
8	chr8:11594600-11596200	Weak transcription	HepG2	liver
9	chr8:11594600-11597200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr8:11594600-11597600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:11595000-11596200	Weak transcription	Gastric	stomach
12	chr8:11595200-11596200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr8:11595200-11596200	Weak transcription	Pancreas	Pancrea
14	chr8:11595200-11596200	Weak transcription	Right Atrium	heart
15	chr8:11595200-11597200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr8:11595200-11598000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:11595200-11599000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr8:11595200-11600600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr8:11595400-11600600	Weak transcription	Colon Smooth Muscle	Colon
20	chr8:11595600-11596000	Weak transcription	Stomach Mucosa	stomach

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