Variant report

Variant	rs7445500
Chromosome Location	chr5:60666229-60666230
allele	A/G
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]
rs10514910	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12517679	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12519658	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12520195	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16891822	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16891983	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16892286	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16892307	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16892374	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35102220	0.96[ASN][1000 genomes]
rs35432189	0.94[ASN][1000 genomes]
rs4590138	1.00[ASN][1000 genomes]
rs56885035	1.00[ASN][1000 genomes]
rs57709834	1.00[ASN][1000 genomes]
rs61431275	0.94[EUR][1000 genomes]
rs6893130	1.00[ASN][1000 genomes]
rs73107409	1.00[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	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
2	nsv823089	chr5:60589501-60669903	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60641600-60667400	Weak transcription	Fetal Kidney	kidney
2	chr5:60649000-60666400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr5:60653400-60667200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:60653600-60666800	Weak transcription	NHEK	skin
5	chr5:60653600-60667400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:60653800-60681200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr5:60654000-60667400	Weak transcription	Hela-S3	cervix
8	chr5:60654000-60681400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:60656800-60666600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr5:60657000-60666800	Weak transcription	Small Intestine	intestine
11	chr5:60657600-60676400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr5:60658200-60674400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:60658400-60666800	Weak transcription	Fetal Intestine Small	intestine
14	chr5:60658800-60686600	Weak transcription	Fetal Stomach	stomach
15	chr5:60659000-60666400	Weak transcription	Left Ventricle	heart
16	chr5:60659000-60666400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr5:60659000-60666600	Weak transcription	Fetal Intestine Large	intestine
18	chr5:60659000-60667000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr5:60659000-60674600	Weak transcription	Pancreas	Pancrea
20	chr5:60659000-60681600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr5:60659000-60703800	Weak transcription	Primary B cells from cord blood	blood
22	chr5:60659200-60666400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr5:60659200-60686600	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr5:60659400-60666400	Weak transcription	A549	lung
25	chr5:60659400-60669400	Weak transcription	NHDF-Ad	bronchial
26	chr5:60659400-60703600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:60659600-60667800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr5:60659600-60670800	Weak transcription	Fetal Brain Male	brain
29	chr5:60659600-60697600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:60660200-60681600	Weak transcription	HSMM	muscle
31	chr5:60660800-60667400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:60661800-60686800	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr5:60662200-60686800	Weak transcription	NHLF	lung
34	chr5:60663200-60686800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr5:60663400-60666800	Weak transcription	Right Atrium	heart
36	chr5:60663400-60677400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr5:60663400-60690000	Weak transcription	Psoas Muscle	Psoas
38	chr5:60664800-60666400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr5:60664800-60674600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr5:60665400-60666400	Weak transcription	Brain Anterior Caudate	brain
41	chr5:60665400-60673400	Weak transcription	Ovary	ovary
42	chr5:60665400-60686800	Weak transcription	Aorta	Aorta
43	chr5:60665600-60666800	Enhancers	Brain Substantia Nigra	brain
44	chr5:60665600-60667000	Enhancers	HUVEC	blood vessel
45	chr5:60665600-60667200	Weak transcription	Brain Hippocampus Middle	brain
46	chr5:60665600-60673400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:60665600-60681600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr5:60666200-60667000	Enhancers	Adipose Nuclei	Adipose
49	chr5:60666200-60669200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links