Variant report

Variant	rs7599880
Chromosome Location	chr2:47727270-47727271
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:47723653..47725283-chr2:47725374..47727598,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10175959	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10175972	0.97[ASN][1000 genomes]
rs10179452	0.82[ASN][1000 genomes]
rs10188090	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10197011	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10206575	0.96[ASN][1000 genomes]
rs10206782	0.94[ASN][1000 genomes]
rs10209369	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10495945	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11684661	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11684737	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11694689	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11886591	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11901645	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12712993	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12712994	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12991125	0.96[ASN][1000 genomes]
rs13031342	0.87[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1981927	0.82[EUR][1000 genomes]
rs2059520	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2162121	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2303424	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2347795	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3732182	0.81[ASN][1000 genomes]
rs3732183	0.81[ASN][1000 genomes]
rs3764960	0.80[ASN][1000 genomes]
rs3771274	0.82[EUR][1000 genomes]
rs3771275	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3771276	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3771278	0.82[ASN][1000 genomes]
rs3771279	0.82[ASN][1000 genomes]
rs3771280	0.82[ASN][1000 genomes]
rs3771281	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3821227	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4550716	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4583514	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4596025	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6544989	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6544990	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs6707467	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6711675	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6718364	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6719539	0.82[EUR][1000 genomes]
rs6720555	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6724382	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs6724876	0.87[AMR][1000 genomes]
rs6726832	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6729015	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs6739590	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6746426	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6748435	0.82[ASN][1000 genomes]
rs6754473	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6758327	0.88[AMR][1000 genomes]
rs6759990	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7565513	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7585174	0.97[ASN][1000 genomes]
rs7586575	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7596629	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7601062	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7607312	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs876936	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs876937	0.87[ASN][1000 genomes]
rs879722	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9784092	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[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	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv999576	chr2:47506116-47773960	Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv998314	chr2:47720420-47959168	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47725000-47728600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:47725400-47727800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
3	chr2:47726200-47727800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:47726200-47727800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:47726200-47727800	ZNF genes & repeats	Dnd41	blood
6	chr2:47726800-47727600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
7	chr2:47726800-47727800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
8	chr2:47727000-47727400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
9	chr2:47727000-47727400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:47727000-47727400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
11	chr2:47727200-47727600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:47727200-47727800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:47727200-47727800	ZNF genes & repeats	Primary T cells from cord blood	blood
14	chr2:47727200-47729600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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