Variant report

Variant	rs10173355
Chromosome Location	chr2:234597321-234597322
allele	A/T
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	FOXA1	chr2:234597037-234597376	HepG2	liver:	n/a	n/a
2	FOXA2	chr2:234597052-234597363	HepG2	liver:	n/a	n/a
3	FOXA2	chr2:234597024-234597405	A549	lung:	n/a	n/a
4	FOXA1	chr2:234597072-234597409	HepG2	liver:	n/a	n/a
5	TCF12	chr2:234596802-234597555	A549	lung:	n/a	chr2:234597305-234597312
6	FOXA1	chr2:234597047-234597404	HepG2	liver:	n/a	n/a
7	FOXA1	chr2:234596953-234597498	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:234388753..234400184-chr2:234596527..234603213,35	MCF-7	breast:
2	chr2:234593709..234597691-chr2:234598690..234601824,5	MCF-7	breast:
3	chr2:234590573..234592991-chr2:234596085..234597690,2	MCF-7	breast:

Variant related genes	Relation type
UGT1A6	TF binding region
ENSG00000085982	Chromatin interaction
ENSG00000167165	Chromatin interaction
ENSG00000244122	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10167119	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10168155	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10168333	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10168416	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10171367	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10175809	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10179094	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10189426	0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10197460	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10202865	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10203266	0.94[ASN][1000 genomes]
rs10445704	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10929302	0.81[CEU][hapmap]
rs1105879	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1105880	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11680450	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11692021	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11692664	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11695484	0.80[CEU][hapmap]
rs11902131	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12615708	0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12623271	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs13002774	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs13015720	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17862875	0.80[CEU][hapmap]
rs17863787	0.95[CEU][hapmap];0.81[EUR][1000 genomes]
rs2070959	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602376	0.90[CEU][hapmap];0.80[EUR][1000 genomes]
rs2741044	0.90[CEU][hapmap]
rs2741045	0.90[CEU][hapmap]
rs2741046	0.90[CEU][hapmap]
rs28899170	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs35984508	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3806598	0.86[ASN][1000 genomes]
rs4148324	0.90[CEU][hapmap]
rs4148325	0.90[CEU][hapmap]
rs4261716	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4338954	0.94[ASN][1000 genomes]
rs4347832	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4530361	0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4553819	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs45615240	0.94[ASN][1000 genomes]
rs6714634	0.80[CEU][hapmap]
rs6722076	0.85[CEU][hapmap]
rs6724485	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6736508	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6736743	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6742078	0.90[CEU][hapmap]
rs6744284	0.85[CEU][hapmap]
rs6753320	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6753569	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6759892	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7349250	0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7563561	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7571915	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7577677	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7586110	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7592281	0.87[ASN][1000 genomes]
rs7608175	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs887829	0.90[CEU][hapmap]

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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234590000-234597800	Weak transcription	Colonic Mucosa	Colon
2	chr2:234590800-234597400	Weak transcription	Liver	Liver
3	chr2:234590800-234599800	Weak transcription	Esophagus	oesophagus
4	chr2:234593200-234598400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:234594400-234597600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr2:234595800-234597400	Weak transcription	Hela-S3	cervix
7	chr2:234596800-234600600	Enhancers	Stomach Mucosa	stomach
8	chr2:234597000-234597600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr2:234597000-234597800	Enhancers	Gastric	stomach
10	chr2:234597000-234598400	Enhancers	Primary hematopoietic stem cells	blood
11	chr2:234597000-234598400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:234597000-234598600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:234597000-234599000	Enhancers	A549	lung
14	chr2:234597000-234600400	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr2:234597200-234597800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr2:234597200-234598400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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