Variant report

Variant	rs2486281
Chromosome Location	chr15:45744387-45744388
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:45693029..45695760-chr15:45741637..45746369,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171766	Chromatin interaction
ENSG00000171763	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1153834	0.93[YRI][hapmap]
rs1295502	0.92[YRI][hapmap]
rs2433620	0.88[YRI][hapmap]
rs2433621	0.83[YRI][hapmap]
rs2453522	0.94[YRI][hapmap]
rs2467866	0.83[YRI][hapmap]
rs2467867	0.88[YRI][hapmap]
rs2486282	1.00[YRI][hapmap]

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	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
4	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
5	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
6	nsv442701	chr15:45737096-45748752	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45738200-45746600	Weak transcription	Osteobl	bone
2	chr15:45741000-45746200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr15:45741000-45746400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr15:45742400-45744600	Weak transcription	Liver	Liver
5	chr15:45742600-45746200	Weak transcription	Hela-S3	cervix
6	chr15:45743000-45746200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr15:45743200-45746000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr15:45743200-45746800	Weak transcription	Small Intestine	intestine
9	chr15:45743600-45744400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
10	chr15:45743800-45744800	ZNF genes & repeats	Fetal Intestine Small	intestine
11	chr15:45744000-45744400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
12	chr15:45744000-45744400	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr15:45744000-45744800	Enhancers	Stomach Mucosa	stomach
14	chr15:45744000-45746000	Weak transcription	Gastric	stomach
15	chr15:45744000-45746200	Weak transcription	Colonic Mucosa	Colon
16	chr15:45744000-45746800	Weak transcription	Esophagus	oesophagus
17	chr15:45744200-45744600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr15:45744200-45746000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr15:45744200-45746200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr15:45744200-45746200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr15:45744200-45746600	Weak transcription	HSMM	muscle
22	chr15:45744200-45746800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr15:45744200-45748400	Weak transcription	Lung	lung

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