Variant report

Variant	rs2267132
Chromosome Location	chr22:29712874-29712875
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr22:29712397-29713101	H1-hESC	embryonic stem cell:	n/a	chr22:29712541-29712551
2	E2F6	chr22:29712438-29712875	H1-hESC	embryonic stem cell:	n/a	n/a
3	E2F6	chr22:29712254-29713160	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:29712026..29714411-chr22:29782149..29784555,3	K562	blood:
2	chr22:29710051..29711801-chr22:29712827..29715035,2	K562	blood:
3	chr22:29709318..29711551-chr22:29712533..29715035,2	K562	blood:
4	chr22:29703109..29706869-chr22:29711325..29716000,5	K562	blood:
5	chr22:29712077..29714409-chr22:29715175..29718076,3	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RASL10A-1	chr22:29712789-29713583	XLOC_014336
2	lnc-RASL10A-1	chr22:29712733-29713209	ENSG00000273216.1

No data

Variant related genes	Relation type
RASL10A	TF binding region
ENSG00000100280	Chromatin interaction
ENSG00000185340	Chromatin interaction
ENSG00000100276	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11090564	0.83[JPT][hapmap]
rs140062	0.82[CHB][hapmap];0.88[JPT][hapmap]
rs174761	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs174762	0.82[CHB][hapmap]
rs174764	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs174766	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs174770	0.80[CHB][hapmap];0.83[JPT][hapmap]
rs174775	0.88[JPT][hapmap]
rs2071578	0.81[CHB][hapmap]
rs2072051	0.80[CHB][hapmap];0.82[JPT][hapmap]
rs2267133	0.80[CHB][hapmap];0.82[JPT][hapmap]
rs2283849	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs2283850	0.80[CHB][hapmap];0.83[JPT][hapmap]
rs2301290	0.82[CHB][hapmap];0.88[JPT][hapmap]
rs2301585	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs3788410	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs3788411	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs4820803	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs4820804	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs5752903	0.80[CHB][hapmap]
rs5763138	0.82[CHB][hapmap]
rs5763139	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs6006090	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs6006098	0.82[CHB][hapmap]
rs715494	0.80[CHB][hapmap];0.82[JPT][hapmap]
rs879580	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs9537	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs98069	0.82[CHB][hapmap]

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	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv829154	chr22:29617485-29724001	Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv834171	chr22:29626402-29829844	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv829155	chr22:29664396-29724001	Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS 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
5	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv914959	chr22:29696438-29712874	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv914960	chr22:29696438-29714069	Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29707400-29740000	Weak transcription	Hela-S3	cervix
2	chr22:29711000-29722200	Weak transcription	Brain Substantia Nigra	brain
3	chr22:29711400-29722000	Weak transcription	Gastric	stomach
4	chr22:29711600-29722000	Weak transcription	Dnd41	blood
5	chr22:29711600-29722200	Weak transcription	Brain Anterior Caudate	brain
6	chr22:29711600-29722200	Weak transcription	Lung	lung
7	chr22:29711800-29722600	Weak transcription	Aorta	Aorta
8	chr22:29711800-29722600	Weak transcription	Left Ventricle	heart
9	chr22:29711800-29733400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr22:29712000-29722200	Weak transcription	Right Ventricle	heart
11	chr22:29712200-29722200	Weak transcription	Brain Hippocampus Middle	brain
12	chr22:29712200-29722200	Weak transcription	Pancreas	Pancrea
13	chr22:29712200-29722400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr22:29712400-29713400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr22:29712600-29713000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell

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