Variant report

Variant	rs396514
Chromosome Location	chr5:16794916-16794917
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs152705	0.82[EUR][1000 genomes]
rs152706	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs171628	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs173787	0.81[EUR][1000 genomes]
rs250347	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs250348	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs250350	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs250354	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs250355	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs253361	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs33398	0.88[AMR][1000 genomes]
rs33399	0.83[AMR][1000 genomes]
rs33400	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs33403	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs33404	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	esv3529928	chr5:16748426-16856563	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
3	esv3529929	chr5:16748426-16856563	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv1030550	chr5:16748966-16872084	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
5	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
6	nsv597309	chr5:16791857-16837862	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16755200-16795400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:16757600-16796800	Weak transcription	Right Ventricle	heart
3	chr5:16761000-16796600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:16764600-16807400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr5:16775200-16796800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr5:16778800-16800000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:16779800-16796600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:16779800-16797200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr5:16783000-16797000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:16783000-16797400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:16783400-16796800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr5:16783400-16810000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr5:16784400-16796800	Weak transcription	HMEC	breast
14	chr5:16784600-16809200	Weak transcription	Ovary	ovary
15	chr5:16785400-16796800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:16785800-16804200	Weak transcription	HSMM	muscle
17	chr5:16788600-16799800	Weak transcription	Pancreas	Pancrea
18	chr5:16789200-16797200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr5:16789400-16809200	Weak transcription	NHLF	lung
20	chr5:16790600-16796600	Weak transcription	HUVEC	blood vessel
21	chr5:16790800-16797000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr5:16791200-16796400	Enhancers	Fetal Brain Male	brain
23	chr5:16791800-16795000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:16791800-16796600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:16791800-16796800	Weak transcription	NHEK	skin
26	chr5:16791800-16800600	Weak transcription	Osteobl	bone
27	chr5:16791800-16807000	Weak transcription	Fetal Kidney	kidney
28	chr5:16791800-16807400	Weak transcription	Psoas Muscle	Psoas
29	chr5:16792000-16796600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr5:16792000-16796600	Weak transcription	NH-A	brain
31	chr5:16792400-16795400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr5:16792400-16795400	Strong transcription	Fetal Intestine Small	intestine
33	chr5:16792600-16795200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr5:16792600-16795200	Strong transcription	Fetal Intestine Large	intestine
35	chr5:16792600-16798800	Weak transcription	Esophagus	oesophagus
36	chr5:16792800-16795000	Strong transcription	Fetal Stomach	stomach
37	chr5:16792800-16795400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr5:16793000-16795200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr5:16793000-16796600	Weak transcription	HSMMtube	muscle
40	chr5:16793000-16807600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr5:16793200-16797600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr5:16793200-16805400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr5:16793400-16807600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr5:16794000-16795200	Strong transcription	Fetal Muscle Leg	muscle
45	chr5:16794000-16795400	Genic enhancers	A549	lung
46	chr5:16794200-16795200	Enhancers	Fetal Brain Female	brain
47	chr5:16794600-16795000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr5:16794600-16795000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr5:16794600-16795000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr5:16794600-16795000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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