Variant report

Variant	rs565448272
Chromosome Location	chr8:61566905-61566906
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr8:61566309-61566964	Hela-S3	cervix:	n/a	n/a
2	MAX	chr8:61564128-61567062	Hela-S3	cervix:	n/a	n/a
3	GTF2F1	chr8:61565780-61566965	Hela-S3	cervix:	n/a	n/a
4	RUNX3	chr8:61565885-61566960	GM12878	blood:	n/a	chr8:61566545-61566560
5	MYC	chr8:61566856-61567235	MCF10A-Er-Src	breast:	n/a	n/a
6	TCF12	chr8:61565809-61566925	A549	lung:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:61562515..61568989-chr8:61586860..61594946,37	MCF-7	breast:
2	chr8:61559343..61568621-chr8:61588061..61597189,35	MCF-7	breast:
3	chr8:61563005..61568398-chr8:61588453..61593214,14	K562	blood:
4	chr8:61562433..61567496-chr8:61571905..61575539,5	K562	blood:
5	chr8:61562616..61568326-chr8:61569044..61575643,11	MCF-7	breast:
6	chr8:61563620..61565259-chr8:61566551..61570060,3	K562	blood:
7	chr8:61562679..61568216-chr8:61588453..61593754,19	K562	blood:

No data

Variant related genes	Relation type
ENSG00000254869	TF binding region
ENSG00000171316	Chromatin interaction
ENSG00000255289	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv530383	chr8:61431756-61605551	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv831335	chr8:61497540-61688992	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv890945	chr8:61522008-61707725	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv824657	chr8:61555227-61626758	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv824658	chr8:61561488-61612108	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv525495	chr8:61566655-61568210	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61563400-61567200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr8:61565200-61567000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr8:61565200-61567000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr8:61565200-61567000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr8:61565400-61567000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:61565600-61567000	Bivalent/Poised TSS	Fetal Kidney	kidney
7	chr8:61565800-61567000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr8:61566000-61567000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr8:61566000-61567000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:61566000-61567000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:61566000-61567000	Active TSS	Rectal Mucosa Donor 31	rectum
12	chr8:61566200-61567000	Active TSS	Duodenum Mucosa	Duodenum
13	chr8:61566200-61567000	Bivalent/Poised TSS	Fetal Brain Female	brain
14	chr8:61566200-61567000	Bivalent/Poised TSS	A549	lung
15	chr8:61566400-61567000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:61566600-61567000	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr8:61566600-61567000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr8:61566600-61567000	Flanking Active TSS	Liver	Liver
19	chr8:61566800-61567000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:61566800-61567000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
21	chr8:61566800-61567000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr8:61566800-61567000	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
23	chr8:61566800-61567000	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
24	chr8:61566800-61567000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr8:61566800-61567000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr8:61566800-61567000	Enhancers	Brain Cingulate Gyrus	brain
27	chr8:61566800-61567000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
28	chr8:61566800-61567000	Flanking Active TSS	Fetal Intestine Large	intestine
29	chr8:61566800-61567000	Enhancers	Fetal Intestine Small	intestine
30	chr8:61566800-61567000	Bivalent Enhancer	Fetal Stomach	stomach
31	chr8:61566800-61567000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
32	chr8:61566800-61567000	Flanking Active TSS	GM12878-XiMat	blood
33	chr8:61566800-61567000	Flanking Active TSS	Hela-S3	cervix
34	chr8:61566800-61567000	Flanking Active TSS	HMEC	breast
35	chr8:61566800-61567000	Flanking Active TSS	NHEK	skin
36	chr8:61566800-61567200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:61566800-61567200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:61566800-61567200	Enhancers	Primary B cells from peripheral blood	blood
39	chr8:61566800-61567200	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr8:61566800-61567200	Enhancers	Brain Anterior Caudate	brain
41	chr8:61566800-61567200	Bivalent Enhancer	Fetal Lung	lung
42	chr8:61566800-61567400	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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