Variant report

Variant	rs6720352
Chromosome Location	chr2:168000927-168000928
allele	C/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	JUND	chr2:168000860-168001489	SK-N-SH	brain:	n/a	chr2:168001219-168001230 chr2:168001445-168001453
2	GATA3	chr2:168000769-168001574	SK-N-SH	brain:	n/a	chr2:168000785-168000793 chr2:168001134-168001144 chr2:168001541-168001550
3	TCF12	chr2:168000890-168001557	SK-N-SH	brain:	n/a	n/a
4	GATA3	chr2:168000774-168001478	SK-N-SH	brain:	n/a	chr2:168000785-168000793 chr2:168001134-168001144
5	NFIC	chr2:168000892-168001489	SK-N-SH	brain:	n/a	n/a
6	PBX3	chr2:168000911-168001378	SK-N-SH	brain:	n/a	n/a
7	CEBPB	chr2:168000807-168001462	IMR90	lung:	n/a	chr2:168001304-168001315 chr2:168001018-168001029
8	PBX3	chr2:168000825-168001511	SK-N-SH	brain:	n/a	n/a
9	TCF12	chr2:168000793-168001444	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
XIRP2-AS1	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10451542	0.93[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes]
rs1155284	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1155285	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11888230	0.93[CEU][hapmap];0.89[EUR][1000 genomes]
rs11893404	0.86[EUR][1000 genomes]
rs11902653	0.93[CEU][hapmap];0.89[EUR][1000 genomes]
rs1346722	0.88[CEU][hapmap];0.80[JPT][hapmap];0.88[YRI][hapmap];0.81[EUR][1000 genomes]
rs1479592	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16853050	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16853057	0.93[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16853217	0.80[JPT][hapmap]
rs4000962	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4533448	0.93[CEU][hapmap];0.81[EUR][1000 genomes]
rs55733637	0.85[EUR][1000 genomes]
rs58616240	0.84[EUR][1000 genomes]
rs6432979	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6432984	0.84[YRI][hapmap]
rs66701411	0.89[EUR][1000 genomes]
rs67074513	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs6711844	0.94[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6720763	0.93[CEU][hapmap];0.82[CHB][hapmap];0.88[EUR][1000 genomes]
rs67386767	0.86[EUR][1000 genomes]
rs67726376	0.85[EUR][1000 genomes]
rs73017939	0.88[EUR][1000 genomes]
rs7569147	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs7575729	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7597463	0.81[JPT][hapmap]
rs988445	0.93[CEU][hapmap];0.95[CHB][hapmap];0.85[EUR][1000 genomes]
rs998899	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875376	chr2:167844513-168037489	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:167996200-168001400	Enhancers	Fetal Heart	heart
2	chr2:167996200-168001400	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr2:167997400-168001000	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr2:167999200-168001400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:167999400-168002200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:167999600-168001000	Enhancers	NHLF	lung
7	chr2:167999600-168002400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:167999800-168001600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr2:168000200-168005400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr2:168000200-168009600	Weak transcription	Psoas Muscle	Psoas
11	chr2:168000600-168001200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:168000600-168003200	Weak transcription	HSMM	muscle
13	chr2:168000800-168001400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:168000800-168001400	Enhancers	Colon Smooth Muscle	Colon

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