Variant report

Variant	rs16825040
Chromosome Location	chr1:186151493-186151494
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:186148276..186150071-chr1:186151136..186154406,3	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10911836	0.95[CEU][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11579683	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11582026	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11583483	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120763	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs12123389	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12124387	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs1322376	0.81[CEU][hapmap]
rs17466882	1.00[CHB][hapmap]
rs2208692	1.00[JPT][hapmap];0.82[TSI][hapmap]
rs2383457	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs56138834	0.93[EUR][1000 genomes]
rs6425021	0.95[CEU][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.84[TSI][hapmap];0.91[EUR][1000 genomes]
rs6680616	0.81[EUR][1000 genomes]
rs72707469	0.85[EUR][1000 genomes]
rs7549613	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7552106	0.91[ASN][1000 genomes]
rs7554865	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7554872	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs911743	1.00[JPT][hapmap];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186114600-186160800	Weak transcription	Fetal Kidney	kidney
2	chr1:186133600-186160800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr1:186134600-186152200	Weak transcription	NH-A	brain
4	chr1:186136200-186152400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:186136200-186153200	Weak transcription	Fetal Lung	lung
6	chr1:186136200-186157600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:186136800-186157000	Weak transcription	Aorta	Aorta
8	chr1:186137000-186152800	Weak transcription	Liver	Liver
9	chr1:186137200-186152000	Weak transcription	Adipose Nuclei	Adipose
10	chr1:186145000-186158400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:186148000-186152200	Weak transcription	Hela-S3	cervix
12	chr1:186148000-186157000	Weak transcription	Left Ventricle	heart
13	chr1:186148600-186152400	Weak transcription	Esophagus	oesophagus
14	chr1:186148800-186151600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:186148800-186152000	Weak transcription	HSMM	muscle
16	chr1:186149400-186151800	Weak transcription	NHDF-Ad	bronchial
17	chr1:186151000-186151600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:186151200-186152400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr1:186151200-186152600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:186151200-186152800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:186151200-186153600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:186151200-186155200	Enhancers	HMEC	breast
23	chr1:186151200-186156800	Enhancers	NHEK	skin
24	chr1:186151400-186152800	Enhancers	Osteobl	bone
25	chr1:186151400-186153200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:186151400-186153800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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