Variant report

Variant	rs4953549
Chromosome Location	chr2:48347732-48347733
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:48340321..48343318-chr2:48346650..48348964,2	K562	blood:
2	chr2:48347369..48349943-chr2:48542903..48544986,2	MCF-7	breast:
3	chr2:48346581..48349566-chr2:48371510..48373940,2	K562	blood:
4	chr2:48339487..48341821-chr2:48346650..48349412,3	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10167776	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11125157	0.81[AMR][1000 genomes]
rs11125165	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11125166	0.81[ASN][1000 genomes]
rs1473611	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1483210	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1483215	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17324704	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1825320	0.85[AMR][1000 genomes]
rs1878079	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1878081	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2128716	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2128719	0.83[ASN][1000 genomes]
rs2136456	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2348717	1.00[ASN][1000 genomes]
rs2348718	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28460586	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2882003	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4146603	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4952904	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4952905	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4953544	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4953546	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4953548	1.00[ASN][1000 genomes]
rs4953552	0.89[ASN][1000 genomes]
rs4953553	0.89[ASN][1000 genomes]
rs4953555	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4953556	0.89[ASN][1000 genomes]
rs4953557	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58178746	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58525908	0.89[ASN][1000 genomes]
rs6545017	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6545019	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6545021	1.00[ASN][1000 genomes]
rs6545023	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6706664	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6712238	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6718037	1.00[ASN][1000 genomes]
rs6722407	1.00[ASN][1000 genomes]
rs6723952	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6750246	0.83[EUR][1000 genomes]
rs6759902	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7563749	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7570354	0.89[ASN][1000 genomes]
rs7589460	1.00[ASN][1000 genomes]
rs7605361	1.00[ASN][1000 genomes]
rs7605366	0.90[ASN][1000 genomes]
rs7609124	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs900506	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs900510	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs900511	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs922902	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs922903	1.00[ASN][1000 genomes]
rs963133	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs963135	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9677729	0.89[ASN][1000 genomes]
rs968888	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs973894	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs990063	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs990549	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS 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	36 gene(s)	inside rSNPs	diseases
3	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv1003766	chr2:48102244-48559654	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv1000455	chr2:48202161-48362638	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv581773	chr2:48277490-48443109	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48340800-48347800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:48342200-48348200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:48342200-48353000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:48342400-48347800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:48342600-48348000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:48345800-48349000	Enhancers	HepG2	liver
7	chr2:48347000-48348200	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr2:48347000-48349200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr2:48347000-48349200	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr2:48347200-48349200	Enhancers	Hela-S3	cervix
11	chr2:48347400-48349000	Enhancers	K562	blood

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