Variant report

Variant	rs6656441
Chromosome Location	chr1:186182382-186182383
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:185967238..185968214-chr1:186181474..186182740,8	MCF-7	breast:
2	chr1:185689440..185690198-chr1:186181442..186182506,4	MCF-7	breast:
3	chr1:186124449..186125420-chr1:186181461..186182598,6	MCF-7	breast:
4	chr1:186124564..186125385-chr1:186181815..186182420,2	K562	blood:
5	chr1:185649957..185650829-chr1:186181415..186182551,4	MCF-7	breast:
6	chr1:185966106..185968754-chr1:186180743..186183363,2	MCF-7	breast:
7	chr1:185689319..185692155-chr1:186180753..186183476,2	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12407613	1.00[ASN][1000 genomes]
rs12408916	1.00[ASN][1000 genomes]
rs12408923	1.00[ASN][1000 genomes]
rs61829757	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61829758	1.00[ASN][1000 genomes]
rs61829759	1.00[ASN][1000 genomes]
rs61831060	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61831061	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61831062	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61831063	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61831064	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61831065	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61831066	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61831067	0.89[AFR][1000 genomes]
rs61831068	0.92[AFR][1000 genomes]
rs6656648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6656651	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6656820	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6666859	0.92[AFR][1000 genomes]
rs72711760	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72711761	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72711763	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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	nsv1003070	chr1:186157240-186202008	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
8	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
9	nsv1009057	chr1:186171374-186203808	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv1009983	chr1:186171374-186206188	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	nsv1009827	chr1:186171374-186216740	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
12	nsv1008469	chr1:186171374-186226502	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
13	nsv998436	chr1:186171719-186206188	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
14	nsv1012840	chr1:186172843-186216740	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
15	nsv1002201	chr1:186173178-186204057	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
16	nsv1014789	chr1:186178238-186223721	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
17	nsv1014133	chr1:186181646-186206188	Enhancers Weak transcription Flanking Active TSS	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	chr1:186178200-186182800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr1:186178400-186183000	Weak transcription	NHEK	skin
3	chr1:186181600-186183600	Enhancers	HMEC	breast
4	chr1:186181600-186184600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:186182000-186182400	Enhancers	NHLF	lung
6	chr1:186182200-186182600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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