Variant report

Variant	rs4322003
Chromosome Location	chr8:62661193-62661194
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:62632882..62635609-chr8:62660140..62662461,2	K562	blood:
2	chr8:62647969..62649921-chr8:62660672..62663364,2	K562	blood:
3	chr8:62653569..62658048-chr8:62660700..62664543,4	K562	blood:
4	chr8:62660931..62663010-chr8:62666480..62668831,2	K562	blood:
5	chr8:62658856..62661850-chr8:62661927..62663483,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10112867	0.86[ASW][hapmap];0.82[CHB][hapmap];0.86[CHD][hapmap];0.94[GIH][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11786133	0.82[JPT][hapmap]
rs13264781	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13266879	0.86[ASW][hapmap];0.82[CHB][hapmap];0.86[CHD][hapmap];0.94[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.80[MKK][hapmap];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1874219	0.82[JPT][hapmap]
rs28449872	0.87[EUR][1000 genomes]
rs4628254	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59681890	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7002414	0.82[AMR][1000 genomes];0.82[EUR][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	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv2761430	chr8:62517980-62873803	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1015216	chr8:62517980-62873803	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs4322003	YTHDF3	cis	cerebellum	SCAN
rs4322003	ASPH	cis	lymphoblastoid	seeQTL
rs4322003	KRT23	trans	cerebellum	SCAN
rs4322003	BHLHE22	cis	cerebellum	SCAN
rs4322003	ASPH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62658000-62662600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:62658000-62662800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:62658200-62662600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr8:62658600-62666800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:62659200-62663600	Enhancers	Primary B cells from cord blood	blood
6	chr8:62660400-62662800	Enhancers	Primary B cells from peripheral blood	blood
7	chr8:62660600-62661400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr8:62660600-62661400	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr8:62660600-62661400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr8:62660800-62661200	Enhancers	Small Intestine	intestine
11	chr8:62660800-62661400	Enhancers	Primary T cells from cord blood	blood
12	chr8:62660800-62661400	Enhancers	GM12878-XiMat	blood
13	chr8:62660800-62661400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr8:62660800-62661600	Enhancers	Stomach Mucosa	stomach
15	chr8:62661000-62661200	Enhancers	K562	blood
16	chr8:62661000-62661400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:62661000-62661400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr8:62661000-62661400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:62661000-62661600	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr8:62661000-62661600	Enhancers	Fetal Lung	lung
21	chr8:62661000-62661600	Flanking Active TSS	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links