Variant report

Variant	rs4701792
Chromosome Location	chr5:7714232-7714233
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:7709570..7711232-chr5:7713220..7715919,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10474818	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10475389	1.00[EUR][1000 genomes]
rs10475390	0.84[AFR][1000 genomes]
rs11134253	0.92[YRI][hapmap];0.93[AFR][1000 genomes]
rs11134255	0.92[YRI][hapmap];0.95[AFR][1000 genomes]
rs13168000	1.00[AFR][1000 genomes]
rs16878974	1.00[EUR][1000 genomes]
rs16878987	1.00[EUR][1000 genomes]
rs4235584	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58196482	1.00[EUR][1000 genomes]
rs6555489	1.00[EUR][1000 genomes]
rs9313202	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916892	chr5:7634377-8158890	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv949492	chr5:7682909-7953909	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv533983	chr5:7701457-8275379	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1024268	chr5:7707047-7821303	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:7688000-7743200	Weak transcription	Brain Substantia Nigra	brain
2	chr5:7690600-7718600	Weak transcription	Brain Anterior Caudate	brain
3	chr5:7691200-7719000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:7691200-7722200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:7696800-7716200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr5:7704400-7723400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr5:7704600-7722200	Weak transcription	Fetal Intestine Small	intestine
8	chr5:7705600-7715800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr5:7705800-7721200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr5:7705800-7721600	Weak transcription	Psoas Muscle	Psoas
11	chr5:7705800-7734600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:7705800-7745200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:7705800-7755000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr5:7706000-7726600	Weak transcription	Fetal Stomach	stomach
15	chr5:7706200-7729200	Weak transcription	Brain Angular Gyrus	brain
16	chr5:7706600-7728400	Weak transcription	Fetal Muscle Leg	muscle
17	chr5:7709400-7718600	Weak transcription	Aorta	Aorta
18	chr5:7709600-7715400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr5:7709600-7717600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr5:7710200-7718600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr5:7710200-7727000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr5:7710400-7718800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr5:7711000-7783600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr5:7711200-7717800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr5:7711200-7717800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr5:7711200-7718400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr5:7711600-7723800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr5:7711800-7719000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr5:7712000-7746000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr5:7713000-7715800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr5:7713200-7714600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:7713200-7716000	Enhancers	Brain Germinal Matrix	brain
33	chr5:7713400-7720200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:7713800-7714600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr5:7714000-7714800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:7714000-7715200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr5:7714000-7715200	Enhancers	K562	blood
38	chr5:7714000-7715400	Enhancers	NHEK	skin
39	chr5:7714000-7716200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr5:7714200-7715200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr5:7714200-7715400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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