Variant report

Variant	rs17862859
Chromosome Location	chr2:234597842-234597843
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	SPI1	chr2:234597766-234597940	K562	blood:	n/a	n/a
2	SPI1	chr2:234597593-234598065	HL-60	blood:	n/a	chr2:234597732-234597745

No.	Distal block	Cell Line	Cell type
1	chr2:234464216..234467169-chr2:234597494..234599447,2	MCF-7	breast:
2	chr2:234388753..234400184-chr2:234596527..234603213,35	MCF-7	breast:
3	chr2:234393680..234401613-chr2:234597738..234605139,18	MCF-7	breast:
4	chr2:234597435..234606028-chr2:234613419..234620116,22	MCF-7	breast:

Variant related genes	Relation type
UGT1A6	TF binding region
ENSG00000224814	Chromatin interaction
ENSG00000085982	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11568318	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs1551286	0.84[EUR][1000 genomes]
rs17862835	0.84[EUR][1000 genomes]
rs17862844	0.84[EUR][1000 genomes]
rs17862846	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs17862848	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs17862851	0.88[CEU][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17862854	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17862874	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17863784	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17863795	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17863800	0.81[EUR][1000 genomes]
rs17864666	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs17864670	0.84[EUR][1000 genomes]
rs17864671	0.84[EUR][1000 genomes]
rs17864675	0.88[CEU][hapmap];1.00[GIH][hapmap];0.88[TSI][hapmap];0.84[EUR][1000 genomes]
rs17864689	0.88[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17864691	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17864692	0.88[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17868298	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs17868299	0.84[EUR][1000 genomes]
rs17868301	0.84[EUR][1000 genomes]
rs17868318	0.88[CEU][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17868320	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17868338	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17868341	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17874945	0.81[EUR][1000 genomes]
rs28898590	0.87[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34916116	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs45507691	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56125405	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56143032	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6714486	0.88[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs6755571	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7563478	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs7585521	0.88[CEU][hapmap];1.00[GIH][hapmap];0.88[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv428072	chr2:234393609-234624769	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1010936	chr2:234549011-234640221	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv876016	chr2:234590527-234601669	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
6	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234590800-234599800	Weak transcription	Esophagus	oesophagus
2	chr2:234593200-234598400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:234596800-234600600	Enhancers	Stomach Mucosa	stomach
4	chr2:234597000-234598400	Enhancers	Primary hematopoietic stem cells	blood
5	chr2:234597000-234598400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:234597000-234598600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:234597000-234599000	Enhancers	A549	lung
8	chr2:234597000-234600400	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr2:234597200-234598400	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr2:234597400-234598200	Enhancers	Liver	Liver
11	chr2:234597400-234599400	Enhancers	HUVEC	blood vessel
12	chr2:234597400-234600800	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr2:234597400-234601000	Enhancers	Hela-S3	cervix
14	chr2:234597600-234598000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr2:234597600-234598400	Enhancers	Duodenum Mucosa	Duodenum
16	chr2:234597600-234599000	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr2:234597600-234600600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr2:234597800-234598000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr2:234597800-234598200	Enhancers	Fetal Lung	lung
20	chr2:234597800-234598400	Enhancers	Colonic Mucosa	Colon
21	chr2:234597800-234608600	Weak transcription	Gastric	stomach

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