Variant report

Variant	rs17839495
Chromosome Location	chr16:31397642-31397643
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:31397034..31399746-chr16:31400566..31403518,3	MCF-7	breast:
2	chr16:31396502..31398458-chr16:31424571..31427313,2	K562	blood:
3	chr16:31393820..31395534-chr16:31395638..31397833,2	MCF-7	breast:
4	chr16:31396941..31397680-chr16:31454467..31454971,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11574641	0.87[ASW][hapmap]
rs13339313	0.87[ASW][hapmap]
rs28638273	1.00[AMR][1000 genomes]
rs35264299	0.80[AFR][1000 genomes]
rs4076526	1.00[AMR][1000 genomes]
rs7192438	1.00[AMR][1000 genomes]
rs9889047	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059459	chr16:31299088-31462251	Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv542901	chr16:31299088-31462251	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv3392534	chr16:31303038-31573066	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	104 gene(s)	inside rSNPs	diseases
4	nsv1058992	chr16:31337455-31414881	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv542902	chr16:31337455-31414881	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1061980	chr16:31338462-31415471	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv833194	chr16:31358179-31528545	Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
8	nsv1059610	chr16:31368699-31421660	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	esv3438651	chr16:31373520-31422007	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv905747	chr16:31394179-31888684	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	123 gene(s)	inside rSNPs	diseases
11	nsv1066280	chr16:31396464-31452067	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31343000-31400800	Weak transcription	Right Atrium	heart
2	chr16:31392600-31398000	Weak transcription	Spleen	Spleen
3	chr16:31395000-31406800	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr16:31395400-31398000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr16:31396400-31398200	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr16:31396600-31398600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr16:31396600-31398600	Enhancers	HMEC	breast
8	chr16:31396800-31398200	Enhancers	Fetal Intestine Small	intestine
9	chr16:31396800-31398400	Enhancers	Hela-S3	cervix
10	chr16:31396800-31398600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr16:31397000-31397800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr16:31397000-31398400	Enhancers	Osteobl	bone
13	chr16:31397000-31398600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr16:31397000-31398600	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr16:31397000-31398600	Enhancers	Duodenum Mucosa	Duodenum
16	chr16:31397000-31398600	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr16:31397000-31398600	Enhancers	A549	lung
18	chr16:31397200-31398200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr16:31397200-31398200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr16:31397200-31398400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr16:31397400-31398000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr16:31397400-31398600	Enhancers	Pancreas	Pancrea
23	chr16:31397600-31398000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr16:31397600-31398000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr16:31397600-31398000	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr16:31397600-31398000	Weak transcription	Esophagus	oesophagus
27	chr16:31397600-31398000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr16:31397600-31398000	Enhancers	HSMM	muscle
29	chr16:31397600-31398000	Bivalent Enhancer	K562	blood
30	chr16:31397600-31398000	Enhancers	NH-A	brain
31	chr16:31397600-31398000	Enhancers	NHEK	skin
32	chr16:31397600-31398200	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr16:31397600-31398400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr16:31397600-31398400	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr16:31397600-31398400	Flanking Active TSS	HSMMtube	muscle

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