Variant report

Variant	rs35020001
Chromosome Location	chr5:147343759-147343760
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10491340	0.84[AMR][1000 genomes]
rs10515597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10515599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10515601	0.82[ASN][1000 genomes]
rs17599360	0.90[AMR][1000 genomes]
rs17599437	0.84[AMR][1000 genomes]
rs17599451	0.84[AMR][1000 genomes]
rs17774838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34578922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34733654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35474788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35783964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35861469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71580469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71580474	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73267103	0.89[EUR][1000 genomes]
rs7724336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028477	chr5:147255013-147416217	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv2760927	chr5:147327342-147343763	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147326600-147345200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:147336400-147352800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:147336600-147352600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr5:147337600-147343800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:147343000-147343800	Enhancers	Primary hematopoietic stem cells	blood
6	chr5:147343000-147344200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr5:147343000-147344600	Enhancers	HUVEC	blood vessel
8	chr5:147343000-147345200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr5:147343000-147346400	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:147343200-147343800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr5:147343200-147344400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:147343200-147344400	Enhancers	Brain Cingulate Gyrus	brain
13	chr5:147343200-147345200	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr5:147343200-147347800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:147343400-147343800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:147343400-147343800	Enhancers	Esophagus	oesophagus
17	chr5:147343400-147343800	Enhancers	Lung	lung
18	chr5:147343400-147343800	Enhancers	Spleen	Spleen
19	chr5:147343400-147343800	Enhancers	Hela-S3	cervix
20	chr5:147343400-147344000	Enhancers	Gastric	stomach
21	chr5:147343400-147344000	Enhancers	Pancreas	Pancrea
22	chr5:147343400-147344200	Strong transcription	H9 Cell Line	embryonic stem cell
23	chr5:147343400-147344200	Enhancers	Right Atrium	heart
24	chr5:147343400-147344200	Enhancers	Stomach Mucosa	stomach
25	chr5:147343400-147344400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr5:147343400-147344400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr5:147343400-147344800	Enhancers	Brain Hippocampus Middle	brain
28	chr5:147343400-147345200	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr5:147343400-147345200	Enhancers	Adipose Nuclei	Adipose
30	chr5:147343400-147345400	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr5:147343600-147343800	Enhancers	Left Ventricle	heart
32	chr5:147343600-147344000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr5:147343600-147344000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr5:147343600-147344000	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr5:147343600-147344200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr5:147343600-147344200	Enhancers	Brain Anterior Caudate	brain
37	chr5:147343600-147344400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr5:147343600-147344400	Enhancers	Fetal Intestine Large	intestine
39	chr5:147343600-147344400	Enhancers	Fetal Intestine Small	intestine
40	chr5:147343600-147345600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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