Variant report

Variant	rs1112327
Chromosome Location	chr1:86408883-86408884
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs10732722	0.93[CHB][hapmap]
rs10782561	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10873730	0.90[CEU][hapmap]
rs10873731	0.95[CEU][hapmap]
rs1112326	1.00[CHB][hapmap]
rs1112328	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11161693	0.95[CEU][hapmap]
rs11161695	0.95[CEU][hapmap]
rs11161710	1.00[CHB][hapmap]
rs11161711	1.00[CHB][hapmap]
rs12029238	0.95[CEU][hapmap]
rs12144570	0.93[CHB][hapmap]
rs12740695	0.88[CHB][hapmap];0.94[JPT][hapmap];0.81[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1354245	1.00[CHB][hapmap]
rs1359421	1.00[CHB][hapmap]
rs1481201	1.00[CHB][hapmap]
rs1502657	1.00[CHB][hapmap]
rs1698733	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17411495	0.95[CEU][hapmap]
rs313701	0.87[CEU][hapmap]
rs313702	0.86[CEU][hapmap]
rs313705	0.86[CEU][hapmap]
rs313709	0.86[CEU][hapmap]
rs313769	0.95[CEU][hapmap]
rs313770	0.96[CEU][hapmap]
rs313771	0.95[CEU][hapmap]
rs313775	0.95[CEU][hapmap]
rs4303095	1.00[CHB][hapmap]
rs4486475	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs482789	0.86[CEU][hapmap]
rs483498	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs486726	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs489141	0.93[CHB][hapmap]
rs499518	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs524192	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs532186	0.93[CHB][hapmap]
rs537408	0.87[CEU][hapmap]
rs559247	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs560876	1.00[CHB][hapmap]
rs571691	0.87[CHB][hapmap]
rs573444	0.82[CEU][hapmap]
rs578615	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]
rs589698	1.00[CHB][hapmap]
rs593146	0.82[CEU][hapmap]
rs597330	0.93[CHB][hapmap]
rs603297	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs605060	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs606432	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs647977	1.00[CHB][hapmap]
rs6673508	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6699709	1.00[CHB][hapmap]
rs6702912	1.00[CHB][hapmap]
rs682964	0.93[CHB][hapmap]
rs693436	0.82[CEU][hapmap]
rs7512039	0.84[CEU][hapmap]
rs7512890	0.93[CHB][hapmap]
rs7526013	0.82[CEU][hapmap]
rs7536101	0.95[CEU][hapmap]
rs7541806	1.00[CHB][hapmap]
rs861933	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv1011293	chr1:86270649-86416972	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	nsv546727	chr1:86381650-86416725	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv437701	chr1:86385876-86416343	ZNF genes & repeats Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	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
9	nsv546744	chr1:86402185-86412177	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	n/a	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	chr1:86404200-86416000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr1:86404800-86411200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr1:86407200-86417000	Weak transcription	Fetal Lung	lung
4	chr1:86408000-86411200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:86408200-86411200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:86408600-86409800	Enhancers	Fetal Intestine Large	intestine

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