Variant report

Variant	rs62027053
Chromosome Location	chr15:76604340-76604341
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:61)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr15:76602940-76604389	A549	lung:	n/a	n/a
2	EBF1	chr15:76603670-76604369	GM12878	blood:	n/a	chr15:76603954-76603967 chr15:76603956-76603965
3	EBF1	chr15:76602843-76604383	GM12878	blood:	n/a	chr15:76603954-76603967 chr15:76603956-76603965
4	HCFC1	chr15:76602811-76604424	Hela-S3	cervix:	n/a	n/a
5	MTA3	chr15:76602759-76604358	GM12878	blood:	n/a	n/a
6	MAX	chr15:76603007-76604350	A549	lung:	n/a	n/a
7	FOSL2	chr15:76603461-76604350	A549	lung:	n/a	n/a
8	SP1	chr15:76603518-76604342	A549	lung:	n/a	chr15:76603868-76603889 chr15:76603894-76603915
9	ZNF384	chr15:76603532-76604818	K562	blood:	n/a	n/a
10	TEAD4	chr15:76602758-76604349	K562	blood:	n/a	n/a
11	ZNF384	chr15:76603564-76604614	GM12878	blood:	n/a	n/a
12	NR2F2	chr15:76603233-76604357	K562	blood:	n/a	n/a
13	MXI1	chr15:76602719-76604461	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr15:76603151-76604406	PFSK-1	brain:	n/a	n/a
15	EBF1	chr15:76603610-76604371	GM12878	blood:	n/a	chr15:76603954-76603967 chr15:76603956-76603965
16	TCF12	chr15:76603158-76604367	A549	lung:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:76604340-76604390	NT2-D1	testis:	n/a
2	chr15:76604340-76604390	H1-hESC	embryonic stem cell:	embryo
3	chr15:76604340-76604390	Hepatocyte	liver:	n/a
4	chr15:76604340-76604390	CMK	blood:	n/a
5	chr15:76604340-76604390	MCF10A-Er-Src	breast:	n/a
6	chr15:76604340-76604390	HAEpiC	amniotic membrane:	n/a
7	chr15:76604340-76604390	NB4	blood:	n/a
8	chr15:76604340-76604390	HRCEpiC	kidney:	n/a
9	chr15:76604340-76604390	SKMC	muscle:	n/a
10	chr15:76604340-76604390	GM12891	blood:	n/a
11	chr15:76604340-76604390	PrEC	prostate:	n/a
12	chr15:76604340-76604390	SK-N-MC	brain:	n/a
13	chr15:76604340-76604390	RPTEC	kidney:	n/a
14	chr15:76604340-76604390	HPAEpiC	pulmonary alveolar:	n/a
15	chr15:76604340-76604390	NHBE	bronchial:	n/a
16	chr15:76604340-76604390	Caco-2	colon:	n/a
17	chr15:76604340-76604390	AG04449	skin:	fetal
18	chr15:76604340-76604390	NHDF-neo	bronchial:	n/a
19	chr15:76604340-76604390	HNPCEpiC	eye:	n/a
20	chr15:76604340-76604390	K562	blood:	n/a
21	chr15:76604340-76604390	Jurkat	blood:	n/a
22	chr15:76604340-76604390	SK-N-SH_RA	brain:	n/a
23	chr15:76604340-76604390	ECC-1	luminal epithelium:	n/a
24	chr15:76604340-76604390	HCT-116	colon:	n/a
25	chr15:76604340-76604390	SK-N-SH	brain:	n/a
26	chr15:76604340-76604390	GM19239	blood:	n/a
27	chr15:76604340-76604390	AG04450	lung:	fetal
28	chr15:76604340-76604390	MCF-7	breast:	n/a
29	chr15:76604340-76604390	T-47D	breast:	n/a
30	chr15:76604340-76604390	BJ	skin:	n/a
31	chr15:76604340-76604390	HCM	heart:	n/a
32	chr15:76604340-76604390	AG09319	gingival:	n/a
33	chr15:76604340-76604390	A549	lung:	n/a
34	chr15:76604340-76604390	ovcar-3	ovarian:	n/a
35	chr15:76604340-76604390	HRE	kidney:	n/a
36	chr15:76604340-76604390	HMEC	breast:	n/a
37	chr15:76604340-76604390	U87	brain:	n/a
38	chr15:76604340-76604390	HIPEpiC	eye:	n/a
39	chr15:76604340-76604390	PFSK-1	brain:	n/a
40	chr15:76604340-76604390	GM12878	blood:	n/a
41	chr15:76604340-76604390	HCPEpiC	choroid plexus:	n/a
42	chr15:76604340-76604390	HRPEpiC	eye:	n/a
43	chr15:76604340-76604390	HepG2	liver:	n/a
44	chr15:76604340-76604390	LNCaP	prostate:	n/a
45	chr15:76604340-76604390	BE2_C	brain:	n/a
46	chr15:76604340-76604390	AG09309	skin:	n/a
47	chr15:76604340-76604390	AoSMC	blood vessel:	n/a
48	chr15:76604340-76604390	HL-60	blood:	n/a
49	chr15:76604340-76604390	SAEC	small airway:	n/a
50	chr15:76604340-76604390	ProgFib	skin:	n/a

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:76582923..76594852-chr15:76601949..76606997,18	MCF-7	breast:
2	chr15:76517181..76519721-chr15:76602211..76604425,2	K562	blood:
3	chr15:76577736..76580355-chr15:76602966..76605157,2	MCF-7	breast:
4	chr15:76602419..76607116-chr15:76626572..76631104,6	MCF-7	breast:
5	chr15:76601574..76614388-chr15:76623703..76634730,38	K562	blood:
6	chr15:76602919..76604847-chr15:77361875..77364736,2	K562	blood:
7	chr15:76584959..76587924-chr15:76602984..76605259,2	K562	blood:
8	chr15:76600511..76607655-chr15:76613791..76629933,32	MCF-7	breast:
9	chr15:76603879..76604550-chr2:9695486..9696482,2	NB4	blood:
10	chr15:76573739..76576523-chr15:76603684..76605605,3	K562	blood:
11	chr15:76584135..76596152-chr15:76600630..76606670,15	MCF-7	breast:
12	chr15:76601310..76610583-chr15:76618699..76634643,40	K562	blood:

No data

Variant related genes	Relation type
ETFA	TF binding region
ETFA	CpG island
ENSG00000140391	Chromatin interaction
ENSG00000140374	Chromatin interaction
ENSG00000271855	Chromatin interaction
ENSG00000151694	Chromatin interaction
ENSG00000259514	Chromatin interaction
ENSG00000159556	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11631423	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2404971	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4886793	0.82[ASN][1000 genomes]
rs56074065	0.85[ASN][1000 genomes]
rs56372945	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57217518	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59467462	0.95[ASN][1000 genomes]
rs60929076	0.85[ASN][1000 genomes]
rs62027051	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62027055	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7177370	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520069	chr15:76602212-76609181	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76602200-76604400	Active TSS	Stomach Smooth Muscle	stomach
2	chr15:76602400-76604400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr15:76602400-76604400	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr15:76602400-76604400	Active TSS	NHLF	lung
5	chr15:76602600-76604400	Active TSS	Fetal Intestine Large	intestine
6	chr15:76602600-76604400	Active TSS	Rectal Smooth Muscle	rectum
7	chr15:76602800-76604400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr15:76602800-76604400	Active TSS	Brain Hippocampus Middle	brain
9	chr15:76602800-76604400	Active TSS	Fetal Kidney	kidney
10	chr15:76602800-76604800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr15:76603000-76604400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr15:76603000-76604400	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr15:76603000-76604400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr15:76603000-76604400	Active TSS	Duodenum Mucosa	Duodenum
15	chr15:76603000-76604400	Active TSS	Thymus	Thymus
16	chr15:76603000-76604400	Active TSS	Osteobl	bone
17	chr15:76603000-76604600	Active TSS	Liver	Liver
18	chr15:76603000-76604600	Active TSS	K562	blood
19	chr15:76603600-76604400	Active TSS	Primary B cells from cord blood	blood
20	chr15:76603600-76604400	Active TSS	Primary T cells fromperipheralblood	blood
21	chr15:76603600-76604600	Active TSS	HepG2	liver
22	chr15:76603800-76604400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
23	chr15:76604000-76604400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
24	chr15:76604000-76604800	Weak transcription	Gastric	stomach
25	chr15:76604200-76604400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr15:76604200-76604400	Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr15:76604200-76604400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr15:76604200-76604400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr15:76604200-76604400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr15:76604200-76604400	Enhancers	Brain Angular Gyrus	brain
31	chr15:76604200-76604400	Enhancers	Fetal Lung	lung
32	chr15:76604200-76604400	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr15:76604200-76604400	Active TSS	A549	lung
34	chr15:76604200-76604400	Active TSS	Dnd41	blood
35	chr15:76604200-76604400	Active TSS	GM12878-XiMat	blood
36	chr15:76604200-76604400	Active TSS	Hela-S3	cervix
37	chr15:76604200-76604400	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr15:76604200-76604600	Enhancers	Primary B cells from peripheral blood	blood
39	chr15:76604200-76604800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr15:76604200-76604800	Weak transcription	Left Ventricle	heart
41	chr15:76604200-76604800	Weak transcription	Ovary	ovary
42	chr15:76604200-76604800	Weak transcription	Pancreas	Pancrea
43	chr15:76604200-76604800	Weak transcription	Small Intestine	intestine
44	chr15:76604200-76604800	Enhancers	NHEK	skin
45	chr15:76604200-76605000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr15:76604200-76605000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr15:76604200-76605000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr15:76604200-76605000	Weak transcription	Esophagus	oesophagus
49	chr15:76604200-76605000	Weak transcription	Spleen	Spleen
50	chr15:76604200-76605200	Enhancers	Rectal Mucosa Donor 31	rectum

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