Variant report

Variant	rs8041216
Chromosome Location	chr15:59848505-59848506
allele	A/G
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	TFAP2C	chr15:59847751-59848981	Hela-S3	cervix:	n/a	n/a
2	TFAP2A	chr15:59847753-59848930	Hela-S3	cervix:	n/a	chr15:59848682-59848697 chr15:59848686-59848697
3	RCOR1	chr15:59847665-59848509	Hela-S3	cervix:	n/a	n/a
4	SMARCC1	chr15:59847678-59848890	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:59843141..59845344-chr15:59847957..59850222,2	K562	blood:

Variant related genes	Relation type
ENSG00000240238	TF binding region
ENSG00000240238	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10083653	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10152904	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10163153	0.83[EUR][1000 genomes]
rs11856554	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11856580	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12438840	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12902622	0.81[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12908589	0.88[EUR][1000 genomes]
rs12914046	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17236671	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17269684	0.84[EUR][1000 genomes]
rs28514722	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34444281	0.82[EUR][1000 genomes]
rs34642067	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35384735	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35461856	0.91[EUR][1000 genomes]
rs35743616	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs36034625	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4419005	0.87[CHB][hapmap];0.88[EUR][1000 genomes]
rs4597252	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71480534	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs71480535	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71480536	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7179805	0.85[EUR][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	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1044442	chr15:59765724-59955587	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv542403	chr15:59765724-59955587	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv527754	chr15:59848471-59855226	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59841600-59861600	Weak transcription	Gastric	stomach
2	chr15:59843600-59851200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr15:59845400-59849200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr15:59845600-59849000	Enhancers	HMEC	breast
5	chr15:59846000-59848600	Enhancers	Fetal Intestine Large	intestine
6	chr15:59846000-59848800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr15:59846000-59848800	Enhancers	Duodenum Mucosa	Duodenum
8	chr15:59846000-59848800	Enhancers	Fetal Intestine Small	intestine
9	chr15:59846000-59848800	Enhancers	Stomach Mucosa	stomach
10	chr15:59846000-59848800	Enhancers	NHEK	skin
11	chr15:59847600-59848800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
12	chr15:59847600-59849400	Enhancers	Small Intestine	intestine
13	chr15:59848000-59848800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr15:59848000-59849000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr15:59848200-59848800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr15:59848200-59848800	Flanking Active TSS	Hela-S3	cervix
17	chr15:59848200-59848800	Enhancers	HSMMtube	muscle
18	chr15:59848200-59849400	Bivalent Enhancer	HepG2	liver
19	chr15:59848200-59850200	Enhancers	K562	blood
20	chr15:59848400-59848600	Active TSS	Colonic Mucosa	Colon
21	chr15:59848400-59848600	Flanking Active TSS	A549	lung
22	chr15:59848400-59848800	Enhancers	NHDF-Ad	bronchial
23	chr15:59848400-59850200	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr15:59848400-59851000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr15:59848400-59851000	Weak transcription	Osteobl	bone

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