Variant report

Variant	rs62356519
Chromosome Location	chr5:40766858-40766859
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:40765278..40768665-chr5:40827361..40829681,3	K562	blood:
2	chr5:40766740..40771015-chr5:40831355..40836202,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000212296	Chromatin interaction
ENSG00000145592	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11740266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11743132	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11743196	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11745121	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11748743	0.90[EUR][1000 genomes]
rs11749180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11749437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12186450	0.83[AMR][1000 genomes]
rs12188129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12188981	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12189463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35999176	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62356509	1.00[ASN][1000 genomes]
rs62356512	1.00[ASN][1000 genomes]
rs62357560	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62357568	0.83[AMR][1000 genomes]
rs62357569	0.83[AMR][1000 genomes]
rs62357570	0.83[AMR][1000 genomes]
rs62357571	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881377	chr5:40753877-40810426	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv881070	chr5:40753877-40827307	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv880438	chr5:40753877-40900717	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	160 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40756000-40776000	Weak transcription	Aorta	Aorta
2	chr5:40756000-40780600	Weak transcription	Spleen	Spleen
3	chr5:40756200-40775200	Weak transcription	Stomach Mucosa	stomach
4	chr5:40756200-40797200	Weak transcription	Gastric	stomach
5	chr5:40756400-40773800	Weak transcription	Lung	lung
6	chr5:40756400-40775000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr5:40756400-40776200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:40756400-40776400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:40756400-40776800	Weak transcription	Psoas Muscle	Psoas
10	chr5:40756400-40780600	Weak transcription	Esophagus	oesophagus
11	chr5:40756400-40785200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr5:40756400-40797400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:40756600-40767600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:40756600-40770200	Weak transcription	Fetal Intestine Small	intestine
15	chr5:40756600-40775800	Weak transcription	Fetal Heart	heart
16	chr5:40756600-40776000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr5:40756600-40780600	Weak transcription	Pancreas	Pancrea
18	chr5:40756600-40781200	Weak transcription	Fetal Brain Male	brain
19	chr5:40757200-40777200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:40757400-40768600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:40757600-40773600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:40758200-40777000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr5:40758400-40777800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr5:40758800-40767800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr5:40759000-40776200	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr5:40759400-40777000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:40759400-40777200	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr5:40759600-40767800	Strong transcription	Primary hematopoietic stem cells	blood
29	chr5:40759600-40776000	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr5:40759800-40768200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr5:40759800-40769800	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr5:40759800-40776000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:40760000-40777600	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr5:40760400-40776200	Strong transcription	Osteobl	bone
35	chr5:40760600-40769800	Strong transcription	Dnd41	blood
36	chr5:40760600-40770000	Strong transcription	Hela-S3	cervix
37	chr5:40760600-40776000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr5:40760600-40777600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr5:40760800-40768800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr5:40760800-40769600	Strong transcription	Duodenum Mucosa	Duodenum
41	chr5:40760800-40777600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr5:40761000-40768600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr5:40761000-40775600	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr5:40761200-40769600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr5:40761200-40776000	Strong transcription	Liver	Liver
46	chr5:40761400-40768400	Strong transcription	Placenta	Placenta
47	chr5:40761400-40768400	Strong transcription	HMEC	breast
48	chr5:40761400-40768600	Strong transcription	Primary B cells from cord blood	blood
49	chr5:40761400-40769600	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr5:40761400-40769600	Strong transcription	HUVEC	blood vessel

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