Variant report

Variant	rs16975348
Chromosome Location	chr19:42066160-42066161
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	POLR2A	chr19:42066131-42066332	GM12878	blood:	n/a	n/a
2	POLR2A	chr19:42066001-42066446	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:42065450..42067193-chr19:42070166..42071920,2	K562	blood:
2	chr19:41920096..41922257-chr19:42065475..42067160,2	MCF-7	breast:

Variant related genes	Relation type
CEACAM21	TF binding region
ENSG00000248098	Chromatin interaction
ENSG00000007129	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11881771	0.89[EUR][1000 genomes]
rs16975329	1.00[CEU][hapmap]
rs16975336	1.00[CEU][hapmap]
rs62119418	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119419	0.89[EUR][1000 genomes]
rs62119420	0.89[EUR][1000 genomes]
rs62119421	0.89[EUR][1000 genomes]
rs62119449	0.89[EUR][1000 genomes]
rs62119450	0.89[EUR][1000 genomes]
rs7246864	0.89[EUR][1000 genomes]
rs7255763	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs7255775	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs7260464	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9749229	1.00[CEU][hapmap];0.97[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][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	nsv911770	chr19:41962486-42066279	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv911771	chr19:41962486-42085873	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv911772	chr19:41985624-42066279	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv911773	chr19:42001210-42085873	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv978751	chr19:42036596-42073874	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1057624	chr19:42057334-42152828	Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv1058847	chr19:42057334-42172442	Bivalent/Poised TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv1063241	chr19:42057334-42175160	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Strong transcription 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	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42058000-42069600	Weak transcription	Pancreas	Pancrea
2	chr19:42062200-42070000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr19:42062400-42069600	Weak transcription	Spleen	Spleen
4	chr19:42062600-42067400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr19:42062600-42067600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr19:42062600-42069400	Weak transcription	Thymus	Thymus
7	chr19:42062600-42069400	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr19:42062800-42066200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr19:42063200-42066600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr19:42063600-42066400	Genic enhancers	Primary T cells from cord blood	blood
11	chr19:42063600-42068200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr19:42064000-42068000	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr19:42064000-42069000	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr19:42065000-42066600	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr19:42065000-42066800	Strong transcription	Primary B cells from cord blood	blood
16	chr19:42065000-42067200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr19:42065000-42069600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr19:42065400-42066400	Genic enhancers	GM12878-XiMat	blood
19	chr19:42065400-42066600	Enhancers	Primary hematopoietic stem cells	blood
20	chr19:42065600-42066800	Genic enhancers	Primary B cells from peripheral blood	blood
21	chr19:42065600-42066800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr19:42065800-42066800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr19:42065800-42067000	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr19:42066000-42066400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr19:42066000-42066800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr19:42066000-42067000	Genic enhancers	Primary T cells fromperipheralblood	blood

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