Variant report

Variant	rs12985559
Chromosome Location	chr19:42643889-42643890
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:42638118..42640370-chr19:42641495..42644957,3	K562	blood:
2	chr19:42643077..42644838-chr19:42817225..42820036,2	MCF-7	breast:
3	chr19:42642687..42645504-chr19:42651036..42652587,2	K562	blood:

Variant related genes	Relation type
ENSG00000167619	Chromatin interaction
ENSG00000254887	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10425682	1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap]
rs11083643	1.00[CHD][hapmap];1.00[LWK][hapmap]
rs11668239	1.00[CHD][hapmap];1.00[LWK][hapmap]
rs11671088	1.00[LWK][hapmap]
rs12460885	1.00[LWK][hapmap]
rs12609687	1.00[CHD][hapmap]
rs12610025	1.00[LWK][hapmap]
rs12976997	1.00[CHD][hapmap]
rs12978003	1.00[LWK][hapmap]
rs2290694	1.00[CHD][hapmap];1.00[LWK][hapmap]
rs28364793	1.00[LWK][hapmap]
rs34343924	1.00[LWK][hapmap]
rs34578730	1.00[CHD][hapmap];1.00[MEX][hapmap]
rs3745226	1.00[LWK][hapmap]
rs3760640	1.00[MEX][hapmap]
rs5024181	1.00[MEX][hapmap]
rs7254227	1.00[CHD][hapmap];1.00[LWK][hapmap]
rs9676263	1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	esv1805469	chr19:42367635-42798851	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
5	esv1794508	chr19:42580026-42791462	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
6	nsv1055554	chr19:42619671-42821642	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42637600-42658200	Weak transcription	Right Atrium	heart
2	chr19:42638400-42649600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr19:42638400-42652200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr19:42639000-42644400	Weak transcription	Spleen	Spleen
5	chr19:42639200-42650200	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr19:42640200-42659400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr19:42640400-42644000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr19:42640400-42649400	Weak transcription	Primary B cells from cord blood	blood
9	chr19:42640400-42651800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr19:42640400-42652000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr19:42640400-42652000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr19:42640800-42644200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr19:42640800-42652000	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr19:42640800-42652200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr19:42641000-42644000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr19:42642800-42652000	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr19:42642800-42653800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr19:42643200-42654000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr19:42643400-42644000	Weak transcription	Primary T cells from cord blood	blood
20	chr19:42643600-42644600	Weak transcription	Primary B cells from peripheral blood	blood

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