Variant report

Variant	rs566816275
Chromosome Location	chr8:63950228-63950229
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:63937516..63940331-chr8:63949992..63952545,2	K562	blood:
2	chr8:63940680..63942601-chr8:63949219..63951590,2	MCF-7	breast:
3	chr8:62626734..62628934-chr8:63949908..63951935,2	K562	blood:
4	chr8:62675951..62679045-chr8:63950013..63952575,3	K562	blood:
5	chr8:63925789..63928059-chr8:63949158..63951177,2	MCF-7	breast:
6	chr8:63949699..63952423-chr8:63997523..63999992,2	K562	blood:
7	chr8:63950192..63952306-chr8:64079468..64082451,3	K562	blood:
8	chr8:62625715..62628343-chr8:63949746..63952148,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000264408	Chromatin interaction
ENSG00000251127	Chromatin interaction
ENSG00000185728	Chromatin interaction
ENSG00000270673	Chromatin interaction
ENSG00000137561	Chromatin interaction
ENSG00000137563	Chromatin interaction
ENSG00000198363	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	nsv1033527	chr8:63673915-64073735	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv3326059	chr8:63950223-63952971	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63922800-63950800	Weak transcription	Fetal Muscle Leg	muscle
2	chr8:63923800-63950600	Weak transcription	Fetal Kidney	kidney
3	chr8:63938200-63950600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr8:63945800-63950600	Weak transcription	Fetal Intestine Small	intestine
5	chr8:63945800-63950800	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr8:63946000-63950600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr8:63946000-63950800	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr8:63948600-63950600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr8:63949000-63950400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr8:63949000-63950400	Flanking Active TSS	Brain Germinal Matrix	brain
11	chr8:63949000-63950400	Flanking Active TSS	HepG2	liver
12	chr8:63949200-63950400	Enhancers	Fetal Brain Male	brain
13	chr8:63949200-63950600	Enhancers	NHEK	skin
14	chr8:63949400-63950400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr8:63949400-63950600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:63949400-63951000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr8:63949600-63950400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:63949600-63950400	Flanking Active TSS	GM12878-XiMat	blood
19	chr8:63949600-63950800	Weak transcription	Brain Angular Gyrus	brain
20	chr8:63949800-63950400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:63949800-63950400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:63949800-63950400	Flanking Active TSS	Fetal Brain Female	brain
23	chr8:63949800-63950800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:63949800-63952600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:63950000-63950400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
26	chr8:63950000-63950400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:63950000-63950400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:63950000-63950400	Enhancers	Liver	Liver
29	chr8:63950000-63950400	Enhancers	Fetal Heart	heart
30	chr8:63950000-63950400	Weak transcription	Fetal Intestine Large	intestine
31	chr8:63950000-63950600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:63950000-63950600	Enhancers	Fetal Lung	lung
33	chr8:63950000-63950600	Flanking Active TSS	A549	lung
34	chr8:63950000-63950800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr8:63950000-63950800	Flanking Active TSS	Hela-S3	cervix
36	chr8:63950000-63951000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:63950000-63951000	Weak transcription	Esophagus	oesophagus
38	chr8:63950000-63952000	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr8:63950000-63952200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr8:63950000-63952400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr8:63950000-63952600	Active TSS	NHLF	lung
42	chr8:63950200-63950400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr8:63950200-63950400	Active TSS	Muscle Satellite Cultured Cells	--
44	chr8:63950200-63950400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr8:63950200-63950600	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr8:63950200-63950600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr8:63950200-63950600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr8:63950200-63950600	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr8:63950200-63950600	Active TSS	NH-A	brain
50	chr8:63950200-63950800	Flanking Active TSS	HUVEC	blood vessel

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