Variant report

Variant	rs13000242
Chromosome Location	chr2:185063363-185063364
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:185056201..185058976-chr2:185059740..185064773,6	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10803972	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12475408	0.97[ASN][1000 genomes]
rs12993181	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12994095	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12996333	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12997494	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13003128	0.87[ASN][1000 genomes]
rs13004575	0.91[ASN][1000 genomes]
rs13015358	0.91[ASN][1000 genomes]
rs13017070	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13017956	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13025515	0.83[ASN][1000 genomes]
rs13025532	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13028827	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13033991	0.97[ASN][1000 genomes]
rs13035526	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1405192	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1455881	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1526208	0.98[ASN][1000 genomes]
rs1526209	0.96[ASN][1000 genomes]
rs1526210	0.97[ASN][1000 genomes]
rs16825631	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16825649	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16825757	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17582652	0.91[ASN][1000 genomes]
rs17615918	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17615972	0.83[ASN][1000 genomes]
rs1852288	0.97[ASN][1000 genomes]
rs2369208	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2369210	0.97[ASN][1000 genomes]
rs34244915	0.97[ASN][1000 genomes]
rs34378900	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34585395	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs34596322	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34892768	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34947840	0.97[ASN][1000 genomes]
rs34955339	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35267098	0.97[ASN][1000 genomes]
rs35453312	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35501929	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35684494	0.82[ASN][1000 genomes]
rs35769970	0.91[ASN][1000 genomes]
rs35808438	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35863219	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs36000756	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36013983	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36118547	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4143776	0.84[ASN][1000 genomes]
rs4355073	0.97[ASN][1000 genomes]
rs4455125	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6705672	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6722521	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71430139	0.89[ASN][1000 genomes]
rs71430140	0.89[ASN][1000 genomes]
rs7602683	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9283491	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875487	chr2:184737282-185186670	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv834482	chr2:184939548-185066635	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv998904	chr2:184955270-185318483	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1012174	chr2:184956114-185316664	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
5	nsv875488	chr2:184975795-185091908	Enhancers Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv459976	chr2:184995947-185067733	ZNF genes & repeats Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv583993	chr2:184995947-185316457	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1003005	chr2:185014650-185064830	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv1004058	chr2:185016301-185064830	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv520954	chr2:185030292-185067733	Weak transcription Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv1002838	chr2:185035277-185289130	Enhancers Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
12	nsv875489	chr2:185039190-185111854	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv525791	chr2:185039190-185114368	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv459977	chr2:185039190-185114368	Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv583994	chr2:185039190-185114368	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv1002070	chr2:185043076-185116327	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:185057600-185063400	Weak transcription	K562	blood
2	chr2:185060800-185063400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:185061600-185063600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr2:185061600-185063600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr2:185061800-185063800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:185062200-185063600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr2:185062400-185063400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr2:185063200-185063600	Enhancers	HUES6 Cell Line	embryonic stem cell

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