Variant report

Variant	rs17839542
Chromosome Location	chr16:30488927-30488928
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11574938	1.00[CHB][hapmap]
rs11574943	1.00[MEX][hapmap]
rs12598978	1.00[CHB][hapmap]
rs12716977	1.00[CHB][hapmap]
rs17839547	1.00[MEX][hapmap]
rs35864805	1.00[ASN][1000 genomes]
rs7196129	1.00[CHB][hapmap]
rs7198640	1.00[ASN][1000 genomes]
rs73534211	0.85[AMR][1000 genomes]
rs73534219	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532531	chr16:30370550-30581820	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
2	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
4	nsv1783	chr16:30449450-30494321	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30485200-30499600	Weak transcription	Liver	Liver
2	chr16:30485600-30500200	Weak transcription	Dnd41	blood
3	chr16:30485800-30490200	Weak transcription	Primary B cells from cord blood	blood
4	chr16:30485800-30492800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr16:30485800-30500200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:30485800-30521400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr16:30486000-30490600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr16:30486000-30510600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr16:30486200-30494600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr16:30486800-30489000	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr16:30486800-30489200	Genic enhancers	Primary T cells from cord blood	blood
12	chr16:30486800-30490200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr16:30486800-30490200	Weak transcription	Spleen	Spleen
14	chr16:30486800-30490600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr16:30486800-30494800	Weak transcription	Lung	lung
16	chr16:30486800-30495600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr16:30486800-30533400	Weak transcription	Esophagus	oesophagus
18	chr16:30487000-30489200	Genic enhancers	Monocytes-CD14+_RO01746	blood
19	chr16:30487000-30494000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr16:30487000-30494600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr16:30487000-30497000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr16:30487000-30497000	Weak transcription	Fetal Intestine Small	intestine
23	chr16:30487000-30534800	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr16:30487200-30489200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
25	chr16:30487400-30502000	Genic enhancers	Primary T cells fromperipheralblood	blood
26	chr16:30487600-30490000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr16:30487600-30500000	Weak transcription	Placenta	Placenta
28	chr16:30488200-30495800	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr16:30488400-30489000	Enhancers	Duodenum Mucosa	Duodenum
30	chr16:30488400-30491000	Genic enhancers	Primary monocytes fromperipheralblood	blood
31	chr16:30488400-30491000	Enhancers	GM12878-XiMat	blood
32	chr16:30488400-30492000	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr16:30488600-30489000	Genic enhancers	Fetal Thymus	thymus
34	chr16:30488600-30489000	Strong transcription	Thymus	Thymus
35	chr16:30488600-30489400	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr16:30488600-30490600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr16:30488600-30496200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr16:30488800-30489000	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr16:30488800-30489000	Bivalent Enhancer	HepG2	liver
40	chr16:30488800-30489400	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr16:30488800-30490000	Weak transcription	Primary B cells from peripheral blood	blood

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