Variant report

Variant	rs8182064
Chromosome Location	chr15:50482304-50482305
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr15:50482139-50482632	GM12878	blood:	n/a	n/a
2	RFX5	chr15:50481853-50482328	K562	blood:	n/a	n/a
3	EP300	chr15:50481887-50482479	K562	blood:	n/a	n/a
4	MEF2A	chr15:50482105-50482716	GM12878	blood:	n/a	chr15:50482299-50482320 chr15:50482301-50482317 chr15:50482410-50482421 chr15:50482437-50482453 chr15:50482435-50482456 chr15:50482435-50482456 chr15:50482303-50482314 chr15:50482435-50482456 chr15:50482301-50482316 chr15:50482406-50482427 chr15:50482408-50482422 chr15:50482439-50482450 chr15:50482436-50482452 chr15:50482433-50482454 chr15:50482437-50482452 chr15:50482297-50482318 chr15:50482406-50482427 chr15:50482433-50482454 chr15:50482304-50482313 chr15:50482411-50482420
5	TAL1	chr15:50481737-50482315	K562	blood:	n/a	chr15:50482052-50482070
6	MEF2C	chr15:50482091-50482650	GM12878	blood:	n/a	chr15:50482299-50482320 chr15:50482301-50482317 chr15:50482410-50482421 chr15:50482437-50482453 chr15:50482435-50482456 chr15:50482435-50482456 chr15:50482303-50482314 chr15:50482435-50482456 chr15:50482301-50482316 chr15:50482406-50482427 chr15:50482408-50482422 chr15:50482439-50482450 chr15:50482436-50482452 chr15:50482433-50482454 chr15:50482437-50482452 chr15:50482297-50482318 chr15:50482406-50482427 chr15:50482433-50482454 chr15:50482304-50482313 chr15:50482411-50482420
7	MEF2A	chr15:50482243-50482769	GM12878	blood:	n/a	chr15:50482299-50482320 chr15:50482301-50482317 chr15:50482410-50482421 chr15:50482437-50482453 chr15:50482435-50482456 chr15:50482435-50482456 chr15:50482303-50482314 chr15:50482435-50482456 chr15:50482301-50482316 chr15:50482406-50482427 chr15:50482408-50482422 chr15:50482439-50482450 chr15:50482436-50482452 chr15:50482433-50482454 chr15:50482437-50482452 chr15:50482297-50482318 chr15:50482406-50482427 chr15:50482433-50482454 chr15:50482304-50482313 chr15:50482411-50482420
8	JUN	chr15:50481964-50482420	K562	blood:	n/a	n/a
9	MYC	chr15:50481729-50482317	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:50480644..50482512-chr15:50681372..50682992,2	MCF-7	breast:
2	chr15:50474309..50478509-chr15:50479041..50483050,5	K562	blood:
3	chr15:50481284..50485703-chr15:50645023..50648855,4	MCF-7	breast:

Variant related genes	Relation type
SLC27A2	TF binding region
ENSG00000104043	Chromatin interaction
ENSG00000104064	Chromatin interaction
ENSG00000140284	Chromatin interaction
ENSG00000244879	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17848320	0.82[AFR][1000 genomes]
rs74014929	0.82[AFR][1000 genomes]
rs74014933	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50476000-50503400	Weak transcription	Colonic Mucosa	Colon
2	chr15:50476600-50498000	Weak transcription	Pancreas	Pancrea
3	chr15:50477600-50486200	Enhancers	HepG2	liver
4	chr15:50477600-50498000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr15:50477600-50502200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr15:50478000-50486400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr15:50478400-50502400	Weak transcription	Placenta	Placenta
8	chr15:50478800-50487000	Enhancers	Fetal Intestine Large	intestine
9	chr15:50480000-50490000	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr15:50480400-50501600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr15:50480600-50482800	Enhancers	Liver	Liver
12	chr15:50481000-50483200	Enhancers	K562	blood
13	chr15:50481400-50482400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr15:50481400-50482800	Enhancers	Primary hematopoietic stem cells	blood
15	chr15:50481400-50482800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr15:50481600-50483400	Enhancers	Stomach Mucosa	stomach
17	chr15:50481800-50483400	Enhancers	Fetal Intestine Small	intestine
18	chr15:50481800-50483800	Enhancers	Primary B cells from peripheral blood	blood
19	chr15:50482000-50482400	Weak transcription	A549	lung
20	chr15:50482000-50482800	Enhancers	GM12878-XiMat	blood
21	chr15:50482000-50502800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr15:50482200-50482800	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr15:50482200-50482800	Enhancers	Fetal Kidney	kidney
24	chr15:50482200-50487000	Strong transcription	Hela-S3	cervix

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