Variant report

Variant	rs737517
Chromosome Location	chr3:54706603-54706604
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10510771	0.86[CEU][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10510772	1.00[JPT][hapmap]
rs1130197	1.00[JPT][hapmap]
rs11914780	1.00[JPT][hapmap]
rs11914973	0.91[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11920788	0.91[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11924275	1.00[JPT][hapmap]
rs11925949	1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12185982	1.00[JPT][hapmap]
rs17054227	1.00[JPT][hapmap]
rs17054246	1.00[JPT][hapmap]
rs17054250	1.00[JPT][hapmap]
rs17054291	0.86[CEU][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17054293	1.00[JPT][hapmap];0.83[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17054295	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17054340	1.00[JPT][hapmap]
rs17815617	1.00[JPT][hapmap]
rs17816548	1.00[JPT][hapmap]
rs1863858	1.00[JPT][hapmap]
rs2359857	1.00[JPT][hapmap]
rs2884808	1.00[JPT][hapmap]
rs34478567	1.00[JPT][hapmap]
rs34590038	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4345041	1.00[JPT][hapmap]
rs4358270	1.00[JPT][hapmap]
rs4386460	1.00[JPT][hapmap]
rs492885	0.85[CEU][hapmap]
rs55962540	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56063440	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59796966	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60303224	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61267487	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66795104	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67730102	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6784130	1.00[CEU][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6803005	1.00[JPT][hapmap]
rs72870690	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7624695	1.00[JPT][hapmap]
rs7641640	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014595	chr3:53944473-54846754	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv428084	chr3:54404258-54742756	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv834700	chr3:54637374-54803896	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv525644	chr3:54653316-54709987	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54704000-54706800	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr3:54704200-54706800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:54704200-54707200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr3:54704800-54710200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr3:54705000-54710400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr3:54705000-54719000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr3:54705200-54706800	Enhancers	Right Atrium	heart
8	chr3:54705600-54718800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr3:54705800-54710000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr3:54706000-54707800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr3:54706000-54708800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr3:54706000-54721600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr3:54706200-54707800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr3:54706200-54708200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr3:54706200-54718400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr3:54706200-54719400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr3:54706400-54706800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr3:54706600-54713000	Weak transcription	H9 Cell Line	embryonic stem cell

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