Variant report

Variant	rs2413997
Chromosome Location	chr15:50284435-50284436
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:50157609..50159636-chr15:50284420..50286036,2	MCF-7	breast:
2	chr15:50272105..50274274-chr15:50283581..50286177,2	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]
rs11070741	1.00[CEU][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16963173	0.80[YRI][hapmap]
rs2414002	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2414004	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2414005	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2414006	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2414008	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4343223	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4550392	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4583186	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4627270	1.00[CEU][hapmap];0.80[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs57498160	0.85[AMR][1000 genomes]
rs6493393	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6493394	0.96[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7165307	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7176999	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7179614	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8028408	0.83[EUR][1000 genomes]
rs8041014	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9302151	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][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	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1035983	chr15:50223334-50595170	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv542382	chr15:50223334-50595170	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv904205	chr15:50228476-50286981	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50268600-50290400	Strong transcription	Primary hematopoietic stem cells	blood
2	chr15:50278000-50301600	Weak transcription	Liver	Liver
3	chr15:50278400-50285000	Enhancers	Colon Smooth Muscle	Colon
4	chr15:50280400-50288000	Weak transcription	Fetal Muscle Leg	muscle
5	chr15:50281200-50290200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr15:50282000-50285400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr15:50282000-50285400	Weak transcription	Left Ventricle	heart
8	chr15:50282000-50286400	Weak transcription	Aorta	Aorta
9	chr15:50282000-50287000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr15:50282000-50295600	Weak transcription	Adipose Nuclei	Adipose
11	chr15:50282200-50290400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr15:50282400-50285400	Weak transcription	Ovary	ovary
13	chr15:50282600-50284600	Enhancers	Fetal Stomach	stomach
14	chr15:50282600-50289600	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr15:50282800-50285000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr15:50283000-50290800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr15:50283200-50290000	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr15:50283400-50286400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr15:50283400-50290400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr15:50284000-50284800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr15:50284200-50284800	Enhancers	Rectal Smooth Muscle	rectum

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