Variant report

Variant	rs12713370
Chromosome Location	chr2:58200748-58200749
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	chr2:58199993..58202992-chr5:145207291..145209292,2	K562	blood:
2	chr2:58199246..58201497-chr2:58205167..58207158,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10172212	0.88[JPT][hapmap]
rs10188070	0.94[JPT][hapmap]
rs1040224	0.93[CEU][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs1040225	0.93[CEU][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs12620940	0.82[JPT][hapmap]
rs12622856	0.89[JPT][hapmap]
rs1401100	0.85[CEU][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1518394	0.82[ASN][1000 genomes]
rs1518395	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1518399	0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1568252	0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs1568253	0.89[CEU][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1568254	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2043890	0.88[JPT][hapmap]
rs2139053	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2139054	0.84[ASN][1000 genomes]
rs2176546	0.84[ASN][1000 genomes]
rs2312141	0.83[ASN][1000 genomes]
rs2312147	0.96[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2465804	0.93[CEU][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs2678870	0.89[CEU][hapmap];0.94[JPT][hapmap]
rs2678880	0.92[CEU][hapmap];0.94[JPT][hapmap]
rs2678889	0.89[CEU][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2678890	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2678891	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2678896	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2678897	0.81[CEU][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs2678901	0.93[CEU][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs2678903	0.93[CEU][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs2678904	0.82[ASN][1000 genomes]
rs2678905	0.93[CEU][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs2678906	0.93[CEU][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs2678908	0.92[CEU][hapmap];0.94[JPT][hapmap]
rs2678910	0.84[EUR][1000 genomes]
rs2717001	0.92[CEU][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs2717002	0.92[CEU][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs2717004	0.93[CEU][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs2717006	1.00[CEU][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2717007	0.82[ASN][1000 genomes]
rs2717015	0.83[ASN][1000 genomes]
rs2717019	0.89[CEU][hapmap];0.94[JPT][hapmap]
rs2717023	0.89[CEU][hapmap];0.94[JPT][hapmap]
rs2717024	0.89[CEU][hapmap];0.94[JPT][hapmap]
rs2717027	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2717031	0.89[CEU][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2717032	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2717035	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2717036	0.88[CEU][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs2717040	0.85[CEU][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs2717041	0.80[ASN][1000 genomes]
rs2717043	0.89[CEU][hapmap];0.94[JPT][hapmap]
rs28718871	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6545677	0.96[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6732310	1.00[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs848287	0.88[JPT][hapmap]
rs848288	0.82[JPT][hapmap]
rs848289	0.83[JPT][hapmap]
rs932188	0.91[ASN][1000 genomes]
rs961522	0.81[EUR][1000 genomes]
rs966721	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs970941	0.87[CEU][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs986512	0.80[JPT][hapmap]

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	nsv874196	chr2:57946148-58220320	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1010981	chr2:58013389-58205699	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv834159	chr2:58101262-58283655	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	nsv525988	chr2:58161520-58427786	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv874200	chr2:58163178-58262016	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv458041	chr2:58196110-58237724	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv582096	chr2:58196110-58237724	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58200600-58201000	Active TSS	Primary B cells from cord blood	blood

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