Variant report

Variant	rs71636230
Chromosome Location	chr5:79783116-79783117
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr5:79783093-79784845	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr5:79782376-79783253	MCF-7	breast:	n/a	n/a
3	POLR2A	chr5:79783007-79783196	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:79782822..79786705-chr5:79948261..79952248,11	MCF-7	breast:
2	chr5:79781713..79786255-chr5:79948613..79954295,12	MCF-7	breast:
3	chr5:79775554..79779263-chr5:79781101..79783184,3	K562	blood:
4	chr5:79776960..79779263-chr5:79781101..79783184,2	K562	blood:

Variant related genes	Relation type
FAM151B	TF binding region
ENSG00000228716	Chromatin interaction
ENSG00000113318	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs13160975	0.81[AFR][1000 genomes]
rs13166575	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34564407	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs34691034	0.87[AFR][1000 genomes]
rs34748622	0.90[AFR][1000 genomes]
rs34792001	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs36027722	0.88[AFR][1000 genomes]
rs36153861	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62365285	0.97[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs71636231	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs71636234	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7712536	0.90[AFR][1000 genomes]
rs7730069	0.81[AFR][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	nsv948807	chr5:79549207-79805765	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer 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	49 gene(s)	inside rSNPs	diseases
2	nsv1028027	chr5:79694699-79841752	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79744800-79783200	Weak transcription	Colonic Mucosa	Colon
2	chr5:79765600-79783400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:79766600-79783400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr5:79767800-79783600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:79768200-79783400	Weak transcription	HSMMtube	muscle
6	chr5:79768400-79783400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr5:79771600-79783400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr5:79771600-79783400	Weak transcription	NHDF-Ad	bronchial
9	chr5:79772000-79783200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr5:79772000-79783200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr5:79772000-79783400	Weak transcription	Left Ventricle	heart
12	chr5:79772000-79783400	Weak transcription	HUVEC	blood vessel
13	chr5:79772400-79783400	Weak transcription	Psoas Muscle	Psoas
14	chr5:79772400-79783400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr5:79777200-79783200	Weak transcription	HSMM	muscle
16	chr5:79777200-79783400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:79777400-79783400	Weak transcription	Ovary	ovary
18	chr5:79777400-79783600	Weak transcription	Aorta	Aorta
19	chr5:79779800-79783200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:79779800-79783200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr5:79779800-79783400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:79779800-79783600	Weak transcription	Gastric	stomach
23	chr5:79780200-79783200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:79780200-79783400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:79780400-79783200	Weak transcription	Fetal Intestine Large	intestine
26	chr5:79780800-79783200	Weak transcription	Fetal Intestine Small	intestine
27	chr5:79781000-79783200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr5:79781000-79783200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr5:79781000-79783400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr5:79781200-79783200	Weak transcription	Pancreas	Pancrea
31	chr5:79781400-79783400	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr5:79782200-79783200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr5:79782200-79785000	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr5:79782400-79783200	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr5:79782400-79783200	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr5:79782400-79783400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr5:79782400-79783400	Weak transcription	Lung	lung
38	chr5:79782400-79784800	Flanking Active TSS	Dnd41	blood
39	chr5:79782600-79783200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
40	chr5:79782600-79783200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr5:79782600-79783200	Enhancers	Brain Angular Gyrus	brain
42	chr5:79782600-79783200	Enhancers	Brain Anterior Caudate	brain
43	chr5:79782600-79783200	Flanking Active TSS	Hela-S3	cervix
44	chr5:79782600-79783200	Flanking Active TSS	Osteobl	bone
45	chr5:79782600-79783400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr5:79782600-79783400	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr5:79782600-79783400	Enhancers	Fetal Heart	heart
48	chr5:79782600-79783400	Enhancers	Fetal Kidney	kidney
49	chr5:79782600-79783400	Enhancers	NHLF	lung
50	chr5:79782800-79783200	Enhancers	Primary monocytes fromperipheralblood	blood

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