Variant report

Variant	rs62011472
Chromosome Location	chr15:78284305-78284306
allele	A/C/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	POLR2A	chr15:78282305-78284434	GM12878	blood:	n/a	n/a
2	MAZ	chr15:78284252-78284867	IMR90	lung:	n/a	n/a
3	EP300	chr15:78284267-78284553	SK-N-SH_RA	brain:	n/a	n/a
4	TCF3	chr15:78284107-78284513	GM12878	blood:	n/a	n/a
5	POLR2A	chr15:78284302-78284544	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr15:78283934-78284477	GM12891	blood:	n/a	n/a
7	POLR2A	chr15:78283943-78284700	GM12891	blood:	n/a	n/a
8	POLR2A	chr15:78284130-78284377	GM12878	blood:	n/a	n/a
9	EBF1	chr15:78284109-78284508	GM12878	blood:	n/a	n/a
10	POU2F2	chr15:78283989-78284417	GM12878	blood:	n/a	n/a
11	POLR2A	chr15:78284265-78284698	PANC-1	pancreas:	n/a	n/a
12	POLR2A	chr15:78284036-78284660	GM12892	blood:	n/a	n/a
13	REST	chr15:78283928-78284637	SK-N-SH	brain:	n/a	chr15:78284263-78284276 chr15:78284348-78284357 chr15:78284260-78284280 chr15:78284263-78284276 chr15:78284260-78284273 chr15:78284261-78284279 chr15:78284268-78284278 chr15:78284401-78284419 chr15:78284398-78284416
14	CTCF	chr15:78284300-78284450	SK-N-SH_RA	brain:	n/a	chr15:78284305-78284318 chr15:78284303-78284321
15	MEF2A	chr15:78284244-78284689	SK-N-SH	brain:	n/a	chr15:78284451-78284465
16	CTCF	chr15:78284286-78284339	LNCaP	prostate:	n/a	chr15:78284305-78284318 chr15:78284303-78284321
17	POLR2A	chr15:78283383-78284559	GM12892	blood:	n/a	n/a
18	CTCF	chr15:78284300-78284450	HBMEC	blood vessel:	n/a	chr15:78284305-78284318 chr15:78284303-78284321

No.	Distal block	Cell Line	Cell type
1	chr15:78273690..78276201-chr15:78283311..78284998,2	K562	blood:
2	chr15:78275999..78279475-chr15:78281569..78284408,3	MCF-7	breast:
3	chr15:78275921..78279838-chr15:78281220..78285014,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259792	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17398057	0.86[AMR][1000 genomes]
rs17399424	0.87[AMR][1000 genomes]
rs62011473	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62011474	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62011476	0.91[AMR][1000 genomes]
rs62011479	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs62011482	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs62011483	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs62011509	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs62011510	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs62011512	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs62011516	0.87[AMR][1000 genomes]
rs62011518	0.87[AMR][1000 genomes]
rs62011519	0.87[AMR][1000 genomes]
rs62011521	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1806097	chr15:77817889-78301377	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	esv1833316	chr15:78081307-78328108	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78276000-78285200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr15:78277600-78285600	Enhancers	Placenta	Placenta
3	chr15:78278400-78288800	Enhancers	Fetal Muscle Leg	muscle
4	chr15:78279400-78287600	Enhancers	Fetal Heart	heart
5	chr15:78279400-78287800	Enhancers	Adipose Nuclei	Adipose
6	chr15:78279400-78289800	Enhancers	Ovary	ovary
7	chr15:78279800-78289600	Weak transcription	Fetal Brain Female	brain
8	chr15:78280000-78284400	Enhancers	Spleen	Spleen
9	chr15:78280000-78285400	Enhancers	Fetal Thymus	thymus
10	chr15:78280000-78290400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr15:78280200-78295800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr15:78280600-78284600	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr15:78280800-78285800	Enhancers	Lung	lung
14	chr15:78280800-78286400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr15:78280800-78287600	Enhancers	Right Ventricle	heart
16	chr15:78281000-78285000	Enhancers	Fetal Lung	lung
17	chr15:78281000-78289600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr15:78281200-78284600	Enhancers	HSMM	muscle
19	chr15:78281200-78285400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr15:78281200-78287000	Enhancers	Pancreas	Pancrea
21	chr15:78281400-78284600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr15:78281400-78285000	Enhancers	Duodenum Mucosa	Duodenum
23	chr15:78281800-78284400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr15:78281800-78287600	Enhancers	Right Atrium	heart
25	chr15:78282000-78286000	Enhancers	HSMMtube	muscle
26	chr15:78282000-78287800	Enhancers	Rectal Smooth Muscle	rectum
27	chr15:78282200-78285000	Enhancers	HepG2	liver
28	chr15:78282200-78285200	Enhancers	Brain Hippocampus Middle	brain
29	chr15:78282200-78285800	Enhancers	Gastric	stomach
30	chr15:78282200-78287000	Enhancers	Primary B cells from peripheral blood	blood
31	chr15:78282200-78287600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr15:78282200-78287800	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr15:78282200-78289600	Enhancers	NHLF	lung
34	chr15:78282400-78284400	Enhancers	Primary hematopoietic stem cells	blood
35	chr15:78282400-78284600	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr15:78282400-78284800	Enhancers	GM12878-XiMat	blood
37	chr15:78282400-78285000	Enhancers	Fetal Intestine Large	intestine
38	chr15:78282400-78285200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr15:78282400-78285800	Enhancers	Colonic Mucosa	Colon
40	chr15:78282400-78285800	Enhancers	Fetal Muscle Trunk	muscle
41	chr15:78282400-78286000	Enhancers	Hela-S3	cervix
42	chr15:78282400-78286200	Enhancers	Muscle Satellite Cultured Cells	--
43	chr15:78282400-78287000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr15:78282400-78288800	Enhancers	HMEC	breast
45	chr15:78282600-78284800	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr15:78282600-78285000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr15:78282600-78285000	Enhancers	Brain Angular Gyrus	brain
48	chr15:78282600-78285200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr15:78282600-78285800	Enhancers	Liver	Liver
50	chr15:78282600-78286000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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