Variant report

Variant	rs12553148
Chromosome Location	chr9:18036979-18036980
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10756930	0.91[EUR][1000 genomes]
rs10756931	0.91[EUR][1000 genomes]
rs10810884	0.93[EUR][1000 genomes]
rs10810889	1.00[AFR][1000 genomes]
rs10810890	0.97[EUR][1000 genomes]
rs10810891	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10810900	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs10810901	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs10963392	0.87[EUR][1000 genomes]
rs10963395	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10963412	0.97[EUR][1000 genomes]
rs10963426	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs10963433	0.93[EUR][1000 genomes]
rs10963439	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs10963440	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs10963442	0.80[EUR][1000 genomes]
rs10963445	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs10963447	1.00[AFR][1000 genomes]
rs10963451	0.87[EUR][1000 genomes]
rs10963454	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs10963455	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs11531658	0.83[ASN][1000 genomes]
rs11532854	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11792843	0.83[EUR][1000 genomes]
rs12237150	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12238245	1.00[AFR][1000 genomes]
rs12553925	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12554268	1.00[EUR][1000 genomes]
rs12683106	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12685471	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12686274	0.91[EUR][1000 genomes]
rs12686297	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs16936214	1.00[AFR][1000 genomes]
rs16936263	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16936310	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs16936317	0.82[EUR][1000 genomes]
rs1854579	0.97[EUR][1000 genomes]
rs1854581	0.84[ASN][1000 genomes]
rs2026900	1.00[AFR][1000 genomes]
rs2026901	1.00[AFR][1000 genomes]
rs2210327	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs58805966	0.83[EUR][1000 genomes]
rs72697434	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs72697455	1.00[AFR][1000 genomes]
rs72697457	1.00[AFR][1000 genomes]
rs72697489	0.91[EUR][1000 genomes]
rs72697491	0.93[EUR][1000 genomes]
rs72699409	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv613706	chr9:17718918-18090934	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv613707	chr9:17720175-18070475	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv613708	chr9:17720175-18072085	Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1021862	chr9:17931213-18052101	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1021605	chr9:18002205-18271109	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv892678	chr9:18033944-18082567	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv466280	chr9:18033944-18166112	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv471288	chr9:18033944-18166112	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv613723	chr9:18033944-18166112	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18032200-18039600	Weak transcription	Fetal Brain Male	brain
2	chr9:18036000-18037000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr9:18036000-18037800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr9:18036000-18038000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr9:18036200-18037200	Enhancers	H1 Cell Line	embryonic stem cell
6	chr9:18036200-18037400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr9:18036200-18037400	Enhancers	Hela-S3	cervix
8	chr9:18036200-18037800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr9:18036200-18038400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr9:18036400-18037200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr9:18036400-18037800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr9:18036600-18037000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr9:18036600-18037400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr9:18036600-18037400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr9:18036800-18037000	Enhancers	H9 Cell Line	embryonic stem cell
16	chr9:18036800-18037000	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr9:18036800-18037000	Enhancers	Aorta	Aorta

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