Variant report

Variant	rs2312732
Chromosome Location	chr9:94582969-94582970
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:94576028..94578598-chr9:94581934..94584307,4	K562	blood:
2	chr9:94568416..94571660-chr9:94580532..94583534,3	K562	blood:

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10761133	0.81[CEU][hapmap]
rs10761135	0.81[CEU][hapmap]
rs10820906	0.95[CEU][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10820907	0.89[EUR][1000 genomes]
rs10820910	0.88[CEU][hapmap]
rs10992123	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs10992124	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs10992128	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs10992129	0.86[CEU][hapmap];0.81[EUR][1000 genomes]
rs10992130	0.92[CEU][hapmap]
rs10992131	0.96[CEU][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10992132	0.87[CEU][hapmap]
rs10992134	0.88[CEU][hapmap]
rs10992135	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10992136	0.88[CEU][hapmap]
rs10992137	0.87[CEU][hapmap]
rs10992139	0.88[CEU][hapmap]
rs10992142	0.84[CEU][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10992143	0.84[CEU][hapmap]
rs10992144	0.84[CEU][hapmap]
rs10992145	0.92[CEU][hapmap]
rs11789730	0.83[CEU][hapmap]
rs11790144	0.81[CEU][hapmap]
rs11791450	0.96[CEU][hapmap]
rs12376130	0.84[CEU][hapmap]
rs12376231	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12376539	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12378938	0.95[CEU][hapmap];0.81[EUR][1000 genomes]
rs12551140	0.96[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12552292	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs12552858	0.86[CEU][hapmap]
rs12684524	0.92[CEU][hapmap]
rs1528363	0.92[CEU][hapmap]
rs1528364	0.92[CEU][hapmap]
rs1534530	0.81[AMR][1000 genomes]
rs1534533	0.88[CEU][hapmap]
rs16907887	0.88[CEU][hapmap]
rs1881385	0.92[CEU][hapmap]
rs1881387	0.83[CEU][hapmap]
rs1881392	0.87[CEU][hapmap]
rs1997286	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2312733	0.82[AMR][1000 genomes]
rs2312734	0.96[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2312735	0.92[CEU][hapmap]
rs4322068	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4639579	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs4743857	0.96[CEU][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4744107	0.84[CEU][hapmap]
rs4744109	0.81[CEU][hapmap]
rs4744111	0.88[CEU][hapmap]
rs4744112	0.81[CEU][hapmap]
rs55663665	0.85[EUR][1000 genomes]
rs62564595	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62564598	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6479374	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6479375	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6479376	0.88[CEU][hapmap]
rs7019210	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7029950	0.92[CEU][hapmap]
rs7030661	0.88[CEU][hapmap]
rs7031562	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7033819	0.84[CEU][hapmap]
rs7039406	0.88[CEU][hapmap]
rs7045226	0.88[CEU][hapmap]
rs7045333	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7048756	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72746206	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7850118	0.92[CEU][hapmap]
rs7855417	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs7856144	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7859331	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7863061	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs7864311	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7867707	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs7870049	0.84[CEU][hapmap]
rs7870902	0.83[EUR][1000 genomes]
rs7874148	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045332	chr9:94352661-94656016	Active TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1047426	chr9:94363211-94758114	Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv531631	chr9:94373847-94633213	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1036176	chr9:94500213-94639367	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv540171	chr9:94500213-94639367	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
7	nsv518372	chr9:94558126-94605908	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv6614	chr9:94571349-94610085	ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94572400-94587400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr9:94576800-94586200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr9:94579200-94584000	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr9:94580000-94583600	Weak transcription	Gastric	stomach
5	chr9:94580000-94585000	Weak transcription	Esophagus	oesophagus
6	chr9:94580200-94583800	Weak transcription	Pancreas	Pancrea
7	chr9:94580600-94583400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr9:94580600-94583400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr9:94581000-94583400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr9:94581000-94583400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr9:94581000-94586400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr9:94581200-94583600	Weak transcription	Colon Smooth Muscle	Colon
13	chr9:94581400-94583600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr9:94581400-94583800	Weak transcription	Fetal Stomach	stomach
15	chr9:94581400-94583800	Weak transcription	Ovary	ovary
16	chr9:94581600-94583400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr9:94581600-94583600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr9:94581600-94583800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr9:94581800-94583600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:94581800-94583600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr9:94581800-94586600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr9:94581800-94587600	Weak transcription	Spleen	Spleen
23	chr9:94581800-94588000	Weak transcription	Fetal Kidney	kidney
24	chr9:94582000-94584400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr9:94582400-94583400	Weak transcription	K562	blood
26	chr9:94582400-94586200	Weak transcription	Fetal Lung	lung
27	chr9:94582600-94584200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr9:94582800-94583800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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