Variant report

Variant	rs578615
Chromosome Location	chr1:86422011-86422012
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	chr1:86048046..86050238-chr1:86420456..86423004,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10732722	0.87[CHB][hapmap]
rs10782561	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10873730	0.92[CEU][hapmap]
rs10873731	0.96[CEU][hapmap]
rs1112326	0.94[CHB][hapmap]
rs1112327	0.91[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1112328	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11161693	0.96[CEU][hapmap]
rs11161695	0.96[CEU][hapmap]
rs11161710	0.94[CHB][hapmap]
rs11161711	0.94[CHB][hapmap]
rs12029238	0.96[CEU][hapmap]
rs12144570	0.88[CHB][hapmap]
rs12740695	0.82[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1354245	0.94[CHB][hapmap]
rs1359421	0.93[CHB][hapmap]
rs1481201	0.94[CHB][hapmap]
rs1502657	0.94[CHB][hapmap]
rs1698733	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17411495	0.96[CEU][hapmap]
rs313701	0.86[CEU][hapmap]
rs313702	0.85[CEU][hapmap]
rs313705	0.85[CEU][hapmap]
rs313709	0.89[CEU][hapmap]
rs313769	0.96[CEU][hapmap]
rs313770	0.96[CEU][hapmap]
rs313771	0.96[CEU][hapmap]
rs313775	0.96[CEU][hapmap]
rs4303095	0.94[CHB][hapmap]
rs4486475	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs482789	0.85[CEU][hapmap]
rs483498	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs486726	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs489141	0.88[CHB][hapmap]
rs499518	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs524192	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs532186	0.87[CHB][hapmap]
rs537408	0.86[CEU][hapmap]
rs559247	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs560876	0.94[CHB][hapmap]
rs571691	0.94[CHB][hapmap]
rs573444	0.82[CEU][hapmap]
rs589698	0.94[CHB][hapmap]
rs593146	0.81[CEU][hapmap]
rs597330	1.00[CHB][hapmap]
rs603297	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs605060	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs606432	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs647977	0.94[CHB][hapmap]
rs6673508	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6699709	0.94[CHB][hapmap]
rs6702912	0.94[CHB][hapmap]
rs682964	0.87[CHB][hapmap]
rs693436	0.81[CEU][hapmap]
rs7512890	1.00[CHB][hapmap]
rs7536101	0.96[CEU][hapmap]
rs7541806	0.94[CHB][hapmap]
rs861933	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817212	chr1:86127851-86658426	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv546722	chr1:86278315-86891073	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
3	nsv462395	chr1:86379514-86457334	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv546726	chr1:86379514-86457334	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv508371	chr1:86400824-86430847	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv462406	chr1:86412177-86509996	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv546757	chr1:86412177-86509996	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv947534	chr1:86419901-86427809	Weak transcription Enhancers Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86417200-86422200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:86419200-86431600	Weak transcription	GM12878-XiMat	blood
3	chr1:86421200-86423800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:86421400-86441400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:86421800-86429000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:86422000-86422800	Strong transcription	Primary hematopoietic stem cells	blood

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