Variant report

Variant	rs963707
Chromosome Location	chr9:71355217-71355218
allele	A/G
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	MYBL2	chr9:71354526-71355542	HepG2	liver:	n/a	n/a
2	ZEB1	chr9:71354460-71355318	HepG2	liver:	n/a	n/a
3	MYBL2	chr9:71354601-71355259	HepG2	liver:	n/a	n/a
4	TEAD4	chr9:71354336-71355769	HepG2	liver:	n/a	n/a
5	EP300	chr9:71354392-71355251	HepG2	liver:	n/a	chr9:71354545-71354559

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:71318947..71321633-chr9:71353997..71355633,2	MCF-7	breast:

Variant related genes	Relation type
PIP5K1B	TF binding region
ENSG00000107242	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10119614	0.87[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs10121993	0.82[MEX][hapmap]
rs10217316	0.83[AMR][1000 genomes]
rs10735624	0.88[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs10746919	0.81[AMR][1000 genomes]
rs10781117	0.91[MEX][hapmap];0.83[AMR][1000 genomes]
rs10781142	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10869225	0.86[MEX][hapmap]
rs2039426	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2151415	0.82[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.80[ASN][1000 genomes]
rs2184116	0.88[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.80[ASN][1000 genomes]
rs2184117	0.82[ASW][hapmap];0.91[MEX][hapmap];0.83[AMR][1000 genomes]
rs3945288	0.88[ASN][1000 genomes]
rs4744685	0.86[MEX][hapmap];0.86[TSI][hapmap]
rs4745230	0.91[MEX][hapmap];0.86[TSI][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4745232	0.87[JPT][hapmap]
rs7021661	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7026347	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7040168	0.84[ASN][1000 genomes]
rs7048356	0.88[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026962	chr9:71130848-71357605	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032210	chr9:71130848-71511987	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh 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 miRNA target site	15 gene(s)	inside rSNPs	diseases
3	esv2422258	chr9:71234845-71663340	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1017903	chr9:71276951-71690579	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv893415	chr9:71347988-71364351	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71343400-71363000	Weak transcription	GM12878-XiMat	blood
2	chr9:71343800-71357200	Weak transcription	Primary B cells from peripheral blood	blood
3	chr9:71347400-71357800	Weak transcription	Primary B cells from cord blood	blood
4	chr9:71348200-71359000	Weak transcription	Lung	lung
5	chr9:71350000-71356600	Weak transcription	Aorta	Aorta
6	chr9:71351000-71370600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr9:71351200-71355800	Enhancers	Fetal Intestine Small	intestine
8	chr9:71351200-71360000	Weak transcription	Gastric	stomach
9	chr9:71352400-71365800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr9:71353400-71356600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr9:71353600-71355600	Enhancers	Placenta Amnion	Placenta Amnion
12	chr9:71353800-71356200	Weak transcription	Colonic Mucosa	Colon
13	chr9:71354000-71355400	Enhancers	Primary hematopoietic stem cells	blood
14	chr9:71354000-71356400	Weak transcription	Small Intestine	intestine
15	chr9:71354400-71355600	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr9:71354400-71356400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr9:71354400-71356800	Enhancers	Left Ventricle	heart
18	chr9:71354400-71356800	Enhancers	Pancreas	Pancrea
19	chr9:71354600-71355400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
20	chr9:71354600-71355400	Active TSS	Rectal Smooth Muscle	rectum
21	chr9:71354600-71356000	Flanking Active TSS	HepG2	liver
22	chr9:71354600-71357200	Enhancers	K562	blood
23	chr9:71354800-71356200	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr9:71354800-71361600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr9:71355000-71355400	Active TSS	Duodenum Mucosa	Duodenum
26	chr9:71355000-71355400	Flanking Active TSS	Fetal Heart	heart
27	chr9:71355000-71355600	Flanking Active TSS	Fetal Intestine Large	intestine
28	chr9:71355000-71355600	Active TSS	Stomach Mucosa	stomach
29	chr9:71355000-71356000	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr9:71355000-71356200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr9:71355000-71356800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr9:71355000-71359000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr9:71355000-71359400	Weak transcription	Right Ventricle	heart
34	chr9:71355000-71360000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr9:71355000-71362000	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr9:71355000-71364400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr9:71355000-71365400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr9:71355200-71356200	Weak transcription	Right Atrium	heart
39	chr9:71355200-71356200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr9:71355200-71357600	Weak transcription	Placenta	Placenta

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