Variant report

Variant	rs62008651
Chromosome Location	chr15:78276417-78276418
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr15:78275784-78276548	SK-N-SH	brain:	n/a	n/a
2	ZNF263	chr15:78276202-78276829	HEK293-T-REx	kidney:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:78276399-78276449	HCPEpiC	choroid plexus:	n/a
2	chr15:78276399-78276449	NHBE	bronchial:	n/a
3	chr15:78276399-78276449	AG04450	lung:	fetal
4	chr15:78276399-78276449	BE2_C	brain:	n/a
5	chr15:78276399-78276449	IMR90	lung:	fetal
6	chr15:78276399-78276449	AoSMC	blood vessel:	n/a
7	chr15:78276399-78276449	NT2-D1	testis:	n/a
8	chr15:78276399-78276449	SK-N-SH	brain:	n/a
9	chr15:78276399-78276449	Jurkat	blood:	n/a
10	chr15:78276399-78276449	MCF10A-Er-Src	breast:	n/a
11	chr15:78276399-78276449	PFSK-1	brain:	n/a
12	chr15:78276399-78276449	CMK	blood:	n/a
13	chr15:78276399-78276449	HCT-116	colon:	n/a
14	chr15:78276399-78276449	Caco-2	colon:	n/a
15	chr15:78276399-78276449	AG09319	gingival:	n/a
16	chr15:78276399-78276449	Hepatocyte	liver:	n/a
17	chr15:78276399-78276449	ProgFib	skin:	n/a
18	chr15:78276399-78276449	HCF	heart:	n/a
19	chr15:78276399-78276449	MCF-7	breast:	n/a
20	chr15:78276399-78276449	A549	lung:	n/a
21	chr15:78276399-78276449	HIPEpiC	eye:	n/a
22	chr15:78276399-78276449	HNPCEpiC	eye:	n/a
23	chr15:78276399-78276449	NHDF-neo	bronchial:	n/a
24	chr15:78276399-78276449	AG09309	skin:	n/a
25	chr15:78276399-78276449	HUVEC	blood vessel:	n/a
26	chr15:78276399-78276449	HepG2	liver:	n/a
27	chr15:78276399-78276449	SK-N-MC	brain:	n/a
28	chr15:78276399-78276449	T-47D	breast:	n/a
29	chr15:78276399-78276449	SAEC	small airway:	n/a
30	chr15:78276399-78276449	BJ	skin:	n/a
31	chr15:78276399-78276449	GM12891	blood:	n/a
32	chr15:78276399-78276449	ECC-1	luminal epithelium:	n/a
33	chr15:78276399-78276449	HEK293	kidney:	embryo
34	chr15:78276399-78276449	NH-A	brain:	n/a
35	chr15:78276399-78276449	SKMC	muscle:	n/a
36	chr15:78276399-78276449	HAEpiC	amniotic membrane:	n/a
37	chr15:78276399-78276449	HL-60	blood:	n/a
38	chr15:78276399-78276449	HMEC	breast:	n/a
39	chr15:78276399-78276449	Hela-S3	cervix:	n/a
40	chr15:78276399-78276449	HRE	kidney:	n/a
41	chr15:78276399-78276449	ovcar-3	ovarian:	n/a
42	chr15:78276399-78276449	SK-N-SH_RA	brain:	n/a
43	chr15:78276399-78276449	HRPEpiC	eye:	n/a
44	chr15:78276399-78276449	LNCaP	prostate:	n/a
45	chr15:78276399-78276449	U87	brain:	n/a
46	chr15:78276399-78276449	HPAEpiC	pulmonary alveolar:	n/a
47	chr15:78276399-78276449	GM06990	blood:	n/a
48	chr15:78276399-78276449	AG10803	skin:	n/a
49	chr15:78276399-78276449	NB4	blood:	n/a
50	chr15:78276399-78276449	PrEC	prostate:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:78275921..78279838-chr15:78281220..78285014,4	MCF-7	breast:
2	chr15:78275999..78279475-chr15:78281569..78284408,3	MCF-7	breast:

No data

Variant related genes	Relation type
ADAMTS7P3	TF binding region
ADAMTS7P3	CpG island

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

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

rs_ID	r²[population]
rs11072716	0.92[ASN][1000 genomes]
rs11072717	0.95[ASN][1000 genomes]
rs11630564	0.94[ASN][1000 genomes]
rs12372950	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12439578	0.95[ASN][1000 genomes]
rs12591354	0.85[ASN][1000 genomes]
rs12592891	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28391804	0.87[ASN][1000 genomes]
rs28560025	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34940027	0.86[ASN][1000 genomes]
rs4395040	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60497311	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72732535	0.81[ASN][1000 genomes]
rs74029745	0.84[ASN][1000 genomes]
rs7495018	0.81[EUR][1000 genomes];0.90[ASN][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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78268400-78281800	Weak transcription	Right Atrium	heart
2	chr15:78271800-78282400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr15:78275400-78277800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:78275600-78276800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr15:78275600-78276800	Enhancers	H1 Cell Line	embryonic stem cell
6	chr15:78275600-78276800	Enhancers	HepG2	liver
7	chr15:78275600-78277000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr15:78275800-78276600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr15:78275800-78276600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr15:78275800-78276600	Enhancers	Right Ventricle	heart
11	chr15:78275800-78276800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
12	chr15:78275800-78276800	Enhancers	Fetal Lung	lung
13	chr15:78275800-78276800	Bivalent Enhancer	Fetal Muscle Leg	muscle
14	chr15:78275800-78276800	Enhancers	Placenta	Placenta
15	chr15:78275800-78276800	Bivalent Enhancer	Fetal Stomach	stomach
16	chr15:78275800-78276800	Enhancers	Hela-S3	cervix
17	chr15:78275800-78277600	Enhancers	Esophagus	oesophagus
18	chr15:78275800-78278000	Enhancers	Spleen	Spleen
19	chr15:78276000-78276600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr15:78276000-78276800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr15:78276000-78276800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr15:78276000-78276800	Enhancers	Ovary	ovary
23	chr15:78276000-78276800	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr15:78276000-78276800	Enhancers	HMEC	breast
25	chr15:78276000-78279400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr15:78276000-78279400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr15:78276000-78285200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr15:78276200-78276600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr15:78276200-78276600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
30	chr15:78276200-78276600	Enhancers	Pancreas	Pancrea
31	chr15:78276200-78276600	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr15:78276200-78276600	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr15:78276200-78276600	Bivalent Enhancer	Stomach Mucosa	stomach
34	chr15:78276200-78276600	Enhancers	HSMM	muscle
35	chr15:78276200-78276600	Enhancers	NHDF-Ad	bronchial
36	chr15:78276200-78276600	Bivalent Enhancer	NHEK	skin
37	chr15:78276200-78276800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr15:78276200-78276800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr15:78276200-78276800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr15:78276200-78277400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr15:78276400-78276600	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr15:78276400-78276600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr15:78276400-78277200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr15:78276400-78279400	Weak transcription	Fetal Heart	heart
45	chr15:78276400-78279400	Weak transcription	HSMMtube	muscle

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