Variant report

Variant	rs857582
Chromosome Location	chr1:186203035-186203036
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:186197416..186202525-chr1:186202904..186206868,5	K562	blood:
2	chr1:186120755..186125088-chr1:186200720..186204325,6	MCF-7	breast:
3	chr1:186197416..186201292-chr1:186202438..186207046,5	K562	blood:
4	chr1:186196478..186198082-chr1:186200897..186203093,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143341	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10752964	0.91[AFR][1000 genomes]
rs10911840	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1285114	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1285115	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1285116	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1285117	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1285119	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1293986	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1475100	0.87[EUR][1000 genomes]
rs1998347	0.92[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs2383462	0.83[AFR][1000 genomes]
rs647696	0.81[EUR][1000 genomes]
rs6671112	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6676055	0.82[AFR][1000 genomes]
rs704308	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs857581	0.85[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs857584	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv1007237	chr1:186137724-186226502	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1009149	chr1:186147945-186206188	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv1002503	chr1:186156060-186206188	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS	Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv1010055	chr1:186167933-186216740	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv1009057	chr1:186171374-186203808	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv1009983	chr1:186171374-186206188	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv1009827	chr1:186171374-186216740	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	nsv1008469	chr1:186171374-186226502	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
12	nsv998436	chr1:186171719-186206188	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
13	nsv1012840	chr1:186172843-186216740	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
14	nsv1002201	chr1:186173178-186204057	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
15	nsv1014789	chr1:186178238-186223721	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
16	nsv1014133	chr1:186181646-186206188	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
17	nsv1012403	chr1:186190005-186206188	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
18	nsv998012	chr1:186190005-186216740	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
19	nsv1002107	chr1:186190005-186226502	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
20	esv275404	chr1:186190128-186204891	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186201600-186204800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:186201600-186205600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr1:186201800-186204000	Weak transcription	NHDF-Ad	bronchial
4	chr1:186202000-186204200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:186202200-186204200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:186202400-186203600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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