Variant report

Variant	rs4808981
Chromosome Location	chr19:19800467-19800468
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:19772412..19775307-chr19:19800186..19802110,2	K562	blood:

Variant related genes	Relation type
ENSG00000105726	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10402516	0.96[ASN][1000 genomes]
rs11667828	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs11670710	0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12974308	0.87[ASN][1000 genomes]
rs12976582	0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12980482	0.85[ASN][1000 genomes]
rs12981165	0.91[ASN][1000 genomes]
rs12982049	0.87[ASN][1000 genomes]
rs12982500	0.87[ASN][1000 genomes]
rs12983292	0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1433079	0.82[ASN][1000 genomes]
rs16996227	0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2288865	0.88[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2288867	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs34558847	0.86[ASN][1000 genomes]
rs35035906	0.82[ASN][1000 genomes]
rs35445661	0.88[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs35449009	0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs35792080	0.89[ASN][1000 genomes]
rs35801717	0.87[ASN][1000 genomes]
rs3752152	0.88[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs3794996	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs4808209	0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4808979	1.00[ASN][1000 genomes]
rs7247142	0.81[ASN][1000 genomes]
rs7249670	0.86[ASN][1000 genomes]
rs7251924	0.92[ASN][1000 genomes]
rs74181147	0.87[ASN][1000 genomes]
rs74181148	0.87[ASN][1000 genomes]
rs74181149	0.87[ASN][1000 genomes]
rs74181150	0.87[ASN][1000 genomes]
rs74181151	0.87[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	esv1828240	chr19:19591146-19900900	Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1063273	chr19:19591146-20061367	ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription 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 target site	67 gene(s)	inside rSNPs	diseases
3	esv3330851	chr19:19755507-19852881	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv519533	chr19:19789528-19831544	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3426654	chr19:19797452-19800800	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv3427569	chr19:19797477-19800525	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1065704	chr19:19797999-19865818	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv543929	chr19:19797999-19865818	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19791000-19802000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr19:19791200-19816800	Weak transcription	Right Ventricle	heart
3	chr19:19791600-19810000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:19792400-19810000	Weak transcription	Ovary	ovary
5	chr19:19795400-19811200	Weak transcription	Dnd41	blood
6	chr19:19798000-19800600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr19:19799000-19800800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr19:19800200-19801000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr19:19800400-19800800	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
10	chr19:19800400-19801000	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr19:19800400-19801000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr19:19800400-19801200	ZNF genes & repeats	Thymus	Thymus

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