Variant report

Variant	rs4671522
Chromosome Location	chr2:63844917-63844918
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10164844	0.87[JPT][hapmap]
rs10187024	0.81[ASN][1000 genomes]
rs10200146	0.87[JPT][hapmap]
rs10209140	0.86[JPT][hapmap]
rs10496102	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1109027	1.00[ASW][hapmap];0.83[CEU][hapmap];0.94[GIH][hapmap];1.00[YRI][hapmap]
rs12464471	0.82[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];1.00[YRI][hapmap]
rs12470478	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12472865	1.00[ASW][hapmap];0.83[CEU][hapmap];0.88[GIH][hapmap];1.00[YRI][hapmap]
rs12476015	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12478365	0.84[AFR][1000 genomes]
rs13405855	0.85[ASN][1000 genomes]
rs13417333	0.81[ASN][1000 genomes]
rs17554675	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17617855	0.88[EUR][1000 genomes]
rs17618045	1.00[ASW][hapmap];0.83[CEU][hapmap];0.94[GIH][hapmap];1.00[YRI][hapmap]
rs17618390	0.84[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17619354	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2168274	0.80[JPT][hapmap]
rs2168275	0.81[ASN][1000 genomes]
rs2278718	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2421891	0.85[JPT][hapmap]
rs2422005	0.81[ASN][1000 genomes]
rs4567921	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4671062	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4671506	0.81[JPT][hapmap]
rs4671527	0.84[ASN][1000 genomes]
rs6546021	0.81[ASN][1000 genomes]
rs6546023	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6722981	0.85[ASN][1000 genomes]
rs6723088	0.85[ASN][1000 genomes]
rs6723875	0.81[ASN][1000 genomes]
rs6731136	0.87[JPT][hapmap]
rs72806004	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72806010	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72806027	0.91[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72806055	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72806058	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72806082	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72806089	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72806095	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72821628	0.87[EUR][1000 genomes]
rs72821630	0.87[EUR][1000 genomes]
rs72821631	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs72821632	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1800788	chr2:63473443-63900292	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	esv1792289	chr2:63812148-63900292	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 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	chr2:63842800-63845800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:63843000-63845800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr2:63843000-63846800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:63843000-63847000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:63843400-63847800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr2:63843600-63845200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:63843600-63845800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr2:63843600-63846200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:63844400-63845000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr2:63844400-63845400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr2:63844400-63845600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr2:63844400-63865600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:63844600-63845000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr2:63844600-63846800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr2:63844800-63845200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:63844800-63845400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:63844800-63846600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr2:63844800-63866200	Weak transcription	H9 Cell Line	embryonic stem cell

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