Variant report

Variant	rs2914576
Chromosome Location	chr5:16891243-16891244
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10035649	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12513932	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2560850	0.90[CHB][hapmap]
rs2560851	0.91[CEU][hapmap];0.95[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2562339	0.86[CHB][hapmap]
rs2562340	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2562341	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2562342	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2562347	0.81[CHB][hapmap]
rs2625166	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2625167	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2625168	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2625169	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28696289	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1015247	chr5:16748966-17133274	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv2762500	chr5:16815489-16952565	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
4	nsv880277	chr5:16829442-17316288	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv1034844	chr5:16854341-16903100	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv3485757	chr5:16856475-16966851	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
7	esv3485758	chr5:16856475-16966851	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
8	nsv471739	chr5:16889000-16891718	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3437103	chr5:16889470-16891596	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3470356	chr5:16889510-16891561	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv3470355	chr5:16889522-16891459	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv3470357	chr5:16889522-16891459	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16874000-16894600	Weak transcription	Esophagus	oesophagus
2	chr5:16878200-16893800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:16880600-16894800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:16882000-16894200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:16882800-16895600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr5:16884400-16894800	Weak transcription	Psoas Muscle	Psoas
7	chr5:16885400-16894200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr5:16886000-16892400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:16886000-16893600	Weak transcription	Colonic Mucosa	Colon
10	chr5:16886200-16894400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr5:16886400-16891400	Weak transcription	Aorta	Aorta
12	chr5:16887200-16894000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr5:16887400-16894200	Weak transcription	Placenta	Placenta
14	chr5:16887600-16894200	Weak transcription	Adipose Nuclei	Adipose
15	chr5:16888000-16891800	Enhancers	Fetal Muscle Leg	muscle
16	chr5:16888600-16891400	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr5:16888600-16891800	Enhancers	Fetal Intestine Large	intestine
18	chr5:16888600-16892000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:16888600-16892400	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr5:16888600-16893000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr5:16888600-16893000	Enhancers	Duodenum Mucosa	Duodenum
22	chr5:16888600-16894200	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr5:16888800-16892800	Enhancers	Pancreas	Pancrea
24	chr5:16889400-16892600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr5:16889600-16891400	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr5:16889600-16891600	Enhancers	NHLF	lung
27	chr5:16889800-16894000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr5:16890000-16894200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr5:16890200-16891400	Enhancers	NHEK	skin
30	chr5:16890200-16892200	Enhancers	Fetal Kidney	kidney
31	chr5:16890200-16892600	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr5:16890200-16894200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr5:16890200-16894600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr5:16890400-16891600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr5:16890400-16892200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr5:16890400-16892400	Enhancers	HUVEC	blood vessel
37	chr5:16890400-16894600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr5:16890400-16894600	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr5:16890400-16894800	Weak transcription	Fetal Stomach	stomach
40	chr5:16890600-16891400	Weak transcription	Fetal Lung	lung
41	chr5:16890600-16891600	Enhancers	Lung	lung
42	chr5:16890600-16891800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr5:16890600-16892400	Enhancers	Fetal Intestine Small	intestine
44	chr5:16890600-16892800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr5:16890600-16893800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr5:16890600-16893800	Weak transcription	Stomach Mucosa	stomach
47	chr5:16890600-16894000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr5:16890600-16894000	Weak transcription	NH-A	brain
49	chr5:16890600-16894000	Weak transcription	Osteobl	bone
50	chr5:16890600-16894400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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