Variant report

Variant	rs999817
Chromosome Location	chr14:56312909-56312910
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	chr14:56302735..56305640-chr14:56310752..56313567,2	MCF-7	breast:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10134507	0.83[EUR][1000 genomes]
rs11620875	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11621835	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11622627	0.92[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11622641	0.84[EUR][1000 genomes]
rs11622710	0.83[EUR][1000 genomes]
rs11624167	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11624516	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11625571	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11625869	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11626057	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11627629	0.96[CEU][hapmap];0.88[JPT][hapmap];0.84[EUR][1000 genomes]
rs11628040	0.84[EUR][1000 genomes]
rs12890121	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12894971	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17253841	0.84[EUR][1000 genomes]
rs17832467	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1999705	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1999706	0.86[EUR][1000 genomes]
rs2105058	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2152287	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2342594	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2342595	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28490128	0.88[ASN][1000 genomes]
rs34096981	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34186256	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34421003	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34535564	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34540577	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34663121	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35094937	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35290945	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35527253	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35559254	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35813917	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs36096896	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36112734	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs36120082	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs36149160	0.85[EUR][1000 genomes]
rs36188950	0.85[EUR][1000 genomes]
rs4601950	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55788205	0.83[EUR][1000 genomes]
rs55837858	0.83[EUR][1000 genomes]
rs57658601	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61975563	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61975579	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61977780	0.84[EUR][1000 genomes]
rs61977781	0.84[EUR][1000 genomes]
rs61977782	0.84[EUR][1000 genomes]
rs61977785	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71412700	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901966	chr14:56160904-56436203	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv901977	chr14:56213392-56492996	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56306200-56314800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:56311000-56313200	Weak transcription	Hela-S3	cervix
3	chr14:56311000-56314800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr14:56311000-56316800	Weak transcription	Stomach Mucosa	stomach
5	chr14:56311200-56313200	Weak transcription	Colon Smooth Muscle	Colon
6	chr14:56311600-56313000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr14:56312600-56315600	Enhancers	NHDF-Ad	bronchial
8	chr14:56312800-56313000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr14:56312800-56313000	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr14:56312800-56314400	Enhancers	Adipose Nuclei	Adipose
11	chr14:56312800-56314600	Enhancers	Fetal Brain Male	brain
12	chr14:56312800-56315200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr14:56312800-56315200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:56312800-56315400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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