Variant report

Variant	rs1719248
Chromosome Location	chr15:45632410-45632411
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	chr15:45618068..45621041-chr15:45630551..45632490,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1145075	0.93[YRI][hapmap];0.81[AMR][1000 genomes]
rs1145094	0.86[YRI][hapmap]
rs1145095	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1145096	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1145099	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1153833	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1153848	0.93[YRI][hapmap];0.81[AMR][1000 genomes]
rs1153850	0.86[YRI][hapmap]
rs1153851	0.89[YRI][hapmap]
rs1153856	0.89[YRI][hapmap]
rs1706800	0.88[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1706801	0.96[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1706802	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1834686	0.81[AMR][1000 genomes]
rs2217121	0.86[YRI][hapmap]
rs2413765	0.81[AMR][1000 genomes]
rs2433604	0.86[YRI][hapmap]
rs2453547	0.81[AMR][1000 genomes]
rs2467859	0.81[AMR][1000 genomes]
rs2486271	0.85[YRI][hapmap]
rs2789612	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8024550	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv869616	chr15:45401411-45736209	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv569315	chr15:45446156-45772448	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
5	nsv469721	chr15:45608881-45788002	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
6	nsv482380	chr15:45608881-45788002	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45626000-45652000	Weak transcription	Brain Substantia Nigra	brain
2	chr15:45629800-45642000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr15:45630600-45633200	Enhancers	Fetal Intestine Large	intestine
4	chr15:45631000-45633800	Weak transcription	Stomach Mucosa	stomach
5	chr15:45631000-45635000	Weak transcription	Pancreas	Pancrea
6	chr15:45631000-45636400	Weak transcription	Small Intestine	intestine
7	chr15:45631400-45632800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr15:45631400-45633400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr15:45631800-45635600	Weak transcription	Fetal Intestine Small	intestine
10	chr15:45632000-45633000	Enhancers	Duodenum Mucosa	Duodenum
11	chr15:45632000-45635600	Enhancers	Liver	Liver
12	chr15:45632000-45636400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr15:45632200-45632600	Weak transcription	HepG2	liver

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