Variant report

Variant	rs7048356
Chromosome Location	chr9:71357143-71357144
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:71318773..71321660-chr9:71357020..71360216,3	K562	blood:

Variant related genes	Relation type
ENSG00000107242	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10119614	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10735624	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10781142	0.88[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs11143594	0.82[CEU][hapmap];0.87[CHB][hapmap];1.00[GIH][hapmap]
rs2039426	0.88[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs2151415	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2184116	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3945288	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4745232	1.00[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7026347	0.88[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs7040168	0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs963707	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	chr9:71351000-71370600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr9:71351200-71360000	Weak transcription	Gastric	stomach
7	chr9:71352400-71365800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr9:71354600-71357200	Enhancers	K562	blood
9	chr9:71354800-71361600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr9:71355000-71359000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr9:71355000-71359400	Weak transcription	Right Ventricle	heart
12	chr9:71355000-71360000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr9:71355000-71362000	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr9:71355000-71364400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr9:71355000-71365400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr9:71355200-71357600	Weak transcription	Placenta	Placenta
17	chr9:71355400-71358600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr9:71355400-71361600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr9:71355600-71357600	Enhancers	Fetal Intestine Large	intestine
20	chr9:71355600-71361600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr9:71355600-71364200	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr9:71356000-71358800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr9:71356200-71357800	Enhancers	Stomach Mucosa	stomach
24	chr9:71356200-71362400	Genic enhancers	Fetal Intestine Small	intestine
25	chr9:71356200-71364800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr9:71356400-71358200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr9:71356600-71357200	Enhancers	Aorta	Aorta
28	chr9:71356600-71358800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr9:71356600-71361600	Weak transcription	Colonic Mucosa	Colon
30	chr9:71356800-71357800	Weak transcription	Duodenum Mucosa	Duodenum
31	chr9:71356800-71357800	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr9:71356800-71358400	Weak transcription	HepG2	liver
33	chr9:71356800-71358800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr9:71356800-71359400	Weak transcription	Left Ventricle	heart
35	chr9:71356800-71359800	Weak transcription	Right Atrium	heart
36	chr9:71356800-71361400	Weak transcription	Pancreas	Pancrea
37	chr9:71356800-71361400	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr9:71356800-71361400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr9:71356800-71362800	Weak transcription	Small Intestine	intestine
40	chr9:71357000-71357200	Flanking Active TSS	Fetal Heart	heart

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