Variant report

Variant	rs253410
Chromosome Location	chr5:74928293-74928294
allele	A/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	JUND	chr5:74928092-74928319	K562	blood:	n/a	n/a
2	RCOR1	chr5:74928092-74928302	K562	blood:	n/a	n/a

Variant related genes	Relation type
ANKDD1B	TF binding region

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10036682	0.85[ASN][1000 genomes]
rs10038945	0.83[ASN][1000 genomes]
rs10074747	0.87[ASN][1000 genomes]
rs10077427	0.83[ASN][1000 genomes]
rs10078671	0.85[ASN][1000 genomes]
rs13361353	0.81[ASN][1000 genomes]
rs1469051	0.93[ASN][1000 genomes]
rs1553234	0.83[ASN][1000 genomes]
rs1820049	0.85[ASN][1000 genomes]
rs1909719	0.82[ASN][1000 genomes]
rs2287710	0.85[ASN][1000 genomes]
rs2431295	1.00[YRI][hapmap]
rs253387	0.89[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28668361	0.85[ASN][1000 genomes]
rs34339	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34342	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34343	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34349	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34355	0.87[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34356	0.93[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34357	0.94[CEU][hapmap];1.00[JPT][hapmap]
rs4703675	0.85[ASN][1000 genomes]
rs4704229	0.85[ASN][1000 genomes]
rs5744544	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs5744545	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs5744636	0.82[ASN][1000 genomes]
rs5744667	0.81[ASN][1000 genomes]
rs5744704	0.84[ASN][1000 genomes]
rs5744709	0.81[ASN][1000 genomes]
rs5744712	0.82[ASN][1000 genomes]
rs5744724	1.00[YRI][hapmap]
rs57907925	0.84[ASN][1000 genomes]
rs58841453	0.85[ASN][1000 genomes]
rs72633968	0.82[ASN][1000 genomes]
rs72633972	0.83[ASN][1000 genomes]
rs72633973	0.83[ASN][1000 genomes]
rs72633974	0.82[ASN][1000 genomes]
rs72633975	0.85[ASN][1000 genomes]
rs72633976	0.85[ASN][1000 genomes]
rs72633977	0.95[ASN][1000 genomes]
rs904743	0.84[ASN][1000 genomes]
rs9293654	0.81[ASN][1000 genomes]
rs9293655	0.82[ASN][1000 genomes]
rs979182	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882194	chr5:74656175-74946455	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv882197	chr5:74692776-74946455	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv882199	chr5:74757758-74946455	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv882202	chr5:74808417-74946455	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv518475	chr5:74863041-75411804	Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	esv1850196	chr5:74890618-75138443	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs253410	POC5	cis	Thyroid	GTEx

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74913800-74933600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:74914000-74930800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:74916600-74931800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:74918400-74944200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr5:74918800-74934000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr5:74920200-74936600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:74920400-74929000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:74920400-74944200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr5:74920600-74933400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr5:74921800-74964400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:74922000-74931600	Weak transcription	Lung	lung
12	chr5:74922000-74932000	Weak transcription	Aorta	Aorta
13	chr5:74922000-74932400	Weak transcription	Fetal Intestine Small	intestine
14	chr5:74926800-74929600	Enhancers	Fetal Heart	heart
15	chr5:74927400-74928400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:74928000-74928600	Enhancers	K562	blood
17	chr5:74928200-74928800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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