Variant report

Variant	rs4150853
Chromosome Location	chr8:86095935-86095936
allele	A/C
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	POLR2A	chr8:86095746-86095990	HepG2	liver:	n/a	n/a
2	MAFK	chr8:86095643-86095990	HepG2	liver:	n/a	chr8:86095813-86095828
3	MAFK	chr8:86095667-86095979	IMR90	lung:	n/a	chr8:86095813-86095828
4	POLR2A	chr8:86095505-86096412	K562	blood:	n/a	n/a
5	MAFK	chr8:86095679-86095937	HepG2	liver:	n/a	chr8:86095813-86095828
6	POLR2A	chr8:86095755-86096169	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAFF	chr8:86095678-86095977	HepG2	liver:	n/a	chr8:86095811-86095829

No.	Distal block	Cell Line	Cell type
1	chr8:86019651..86022254-chr8:86094455..86096087,2	K562	blood:
2	chr8:86093537..86096341-chr8:86100869..86102481,2	MCF-7	breast:
3	chr8:86088862..86093405-chr8:86093868..86100908,10	K562	blood:

Variant related genes	Relation type
E2F5	TF binding region
ENSG00000260493	Chromatin interaction
ENSG00000133739	Chromatin interaction
ENSG00000254208	Chromatin interaction
ENSG00000133740	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4150873	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4150886	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73261894	0.86[AFR][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	esv3481417	chr8:85279453-86145229	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv3481418	chr8:85279453-86145229	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv1799571	chr8:86064130-86105803	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a
4	nsv971329	chr8:86094967-86183119	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 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	chr8:86090800-86127800	Weak transcription	Aorta	Aorta
2	chr8:86091000-86101800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr8:86091000-86103600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:86091000-86127800	Weak transcription	HSMMtube	muscle
5	chr8:86091000-86132000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:86091200-86125200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:86091600-86099400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr8:86091600-86100600	Weak transcription	Fetal Stomach	stomach
9	chr8:86091600-86101000	Weak transcription	Thymus	Thymus
10	chr8:86091600-86107600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:86091600-86107800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:86091600-86110000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr8:86091600-86124200	Weak transcription	Primary T cells from cord blood	blood
14	chr8:86091600-86126000	Weak transcription	Hela-S3	cervix
15	chr8:86091800-86096000	Weak transcription	A549	lung
16	chr8:86091800-86096800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:86091800-86098000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr8:86091800-86099400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr8:86091800-86100400	Weak transcription	Fetal Heart	heart
20	chr8:86091800-86100600	Weak transcription	Dnd41	blood
21	chr8:86091800-86124200	Weak transcription	HMEC	breast
22	chr8:86092000-86096000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr8:86092400-86096200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:86092400-86096800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:86093000-86096400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr8:86093600-86100600	Weak transcription	Fetal Thymus	thymus
27	chr8:86094000-86096200	Genic enhancers	Primary B cells from cord blood	blood
28	chr8:86094000-86096800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr8:86094200-86096800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
30	chr8:86094200-86097000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
31	chr8:86094400-86096400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
32	chr8:86094600-86096600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr8:86095400-86096200	Strong transcription	Primary hematopoietic stem cells	blood
34	chr8:86095400-86096400	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr8:86095400-86096600	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr8:86095600-86096000	ZNF genes & repeats	Fetal Brain Male	brain
37	chr8:86095600-86096200	Strong transcription	Fetal Lung	lung
38	chr8:86095600-86096200	ZNF genes & repeats	Fetal Muscle Trunk	muscle
39	chr8:86095600-86096400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
40	chr8:86095600-86096400	ZNF genes & repeats	Fetal Brain Female	brain
41	chr8:86095800-86096400	Genic enhancers	Primary B cells from peripheral blood	blood
42	chr8:86095800-86096800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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