Variant report

Variant	rs9375760
Chromosome Location	chr6:131017953-131017954
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	TCF12	chr6:131017823-131018532	SK-N-SH	brain:	n/a	n/a
2	PBX3	chr6:131017810-131018561	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr6:131017925-131018253	SK-N-SH	brain:	n/a	n/a
4	GATA3	chr6:131017757-131018620	SK-N-SH	brain:	n/a	chr6:131018180-131018187 chr6:131018173-131018194 chr6:131018180-131018189 chr6:131018180-131018187 chr6:131018180-131018187 chr6:131018179-131018189
5	GATA3	chr6:131017824-131018505	SK-N-SH	brain:	n/a	chr6:131018180-131018187 chr6:131018173-131018194 chr6:131018180-131018189 chr6:131018180-131018187 chr6:131018180-131018187 chr6:131018179-131018189
6	TCF12	chr6:131017790-131018563	SK-N-SH	brain:	n/a	n/a
7	FOSL2	chr6:131017851-131018376	SK-N-SH	brain:	n/a	n/a
8	PBX3	chr6:131017877-131018497	SK-N-SH	brain:	n/a	n/a
9	YY1	chr6:131017953-131018412	SK-N-SH	brain:	n/a	chr6:131018089-131018108
10	EP300	chr6:131017788-131018545	SK-N-SH	brain:	n/a	chr6:131017894-131017902

Variant related genes	Relation type
ENSG00000229923	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1157609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12055387	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12055575	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12055636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1605605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17059517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17059604	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1858044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2030024	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2173300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28564053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28660687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9375761	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9375764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9375767	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9388838	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9388842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9398959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9402268	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9402270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9402272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9402277	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9402278	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9402280	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][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	nsv533971	chr6:130490694-131172051	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv830806	chr6:130938330-131107137	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv604664	chr6:131004998-131115817	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv522019	chr6:131017953-131019627	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131014800-131018400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr6:131015400-131018400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr6:131015800-131018000	Weak transcription	Dnd41	blood
4	chr6:131015800-131019000	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr6:131016200-131018200	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr6:131017400-131018000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:131017600-131018200	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr6:131017600-131018400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr6:131017600-131018800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:131017600-131019000	Enhancers	HUVEC	blood vessel
11	chr6:131017600-131019200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr6:131017600-131019200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr6:131017600-131019600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:131017600-131019600	Enhancers	Osteobl	bone
15	chr6:131017800-131019200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:131017800-131019400	Enhancers	NHEK	skin
17	chr6:131017800-131019600	Enhancers	Primary T cells from cord blood	blood
18	chr6:131017800-131019600	Enhancers	NHDF-Ad	bronchial

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