Variant report

Variant	rs538422821
Chromosome Location	chr15:79237399-79237400
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:223)
CpG islands
(count:122)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:223 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr15:79237150-79237896	IMR90	lung:	n/a	n/a
2	E2F4	chr15:79237259-79237491	MCF10A-Er-Src	breast:	n/a	chr15:79237400-79237409
3	MYC	chr15:79236666-79237678	NB4	blood:	n/a	n/a
4	RUNX3	chr15:79237021-79237482	GM12878	blood:	n/a	n/a
5	MAZ	chr15:79236262-79237862	K562	blood:	n/a	n/a
6	RCOR1	chr15:79236740-79237819	K562	blood:	n/a	n/a
7	POLR2A	chr15:79237204-79237644	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr15:79237119-79237486	GM12892	blood:	n/a	n/a
9	MAX	chr15:79236839-79237674	HepG2	liver:	n/a	n/a
10	POLR2A	chr15:79235910-79237614	GM12878	blood:	n/a	n/a
11	POLR2A	chr15:79236993-79237732	MCF-7	breast:	n/a	n/a
12	GATA1	chr15:79236609-79237852	K562	blood:	n/a	chr15:79237575-79237584 chr15:79237595-79237605 chr15:79237574-79237584 chr15:79237336-79237344 chr15:79237573-79237586 chr15:79237575-79237582
13	HEY1	chr15:79237101-79237434	K562	blood:	n/a	n/a
14	SP1	chr15:79237047-79237517	A549	lung:	n/a	chr15:79237080-79237089
15	TBP	chr15:79237187-79237672	H1-hESC	embryonic stem cell:	n/a	n/a
16	PML	chr15:79237144-79237723	K562	blood:	n/a	n/a
17	POLR2A	chr15:79236647-79237678	HepG2	liver:	n/a	n/a
18	RAD21	chr15:79237104-79237622	HepG2	liver:	n/a	n/a
19	RFX5	chr15:79237115-79237504	HepG2	liver:	n/a	n/a
20	HEY1	chr15:79237165-79237409	HepG2	liver:	n/a	n/a
21	POU2F2	chr15:79237007-79237517	GM12878	blood:	n/a	n/a
22	POLR2A	chr15:79236459-79237666	GM12878	blood:	n/a	n/a
23	EBF1	chr15:79237364-79237670	GM12878	blood:	n/a	n/a
24	CTCF	chr15:79237150-79237663	GM12878	blood:	n/a	chr15:79237510-79237523
25	TBL1XR1	chr15:79236884-79237686	K562	blood:	n/a	n/a
26	CHD2	chr15:79237281-79237400	H1-hESC	embryonic stem cell:	n/a	n/a
27	EBF1	chr15:79237153-79237661	GM12878	blood:	n/a	n/a
28	POLR2A	chr15:79236036-79237683	GM10847	blood:	n/a	n/a
29	RAD21	chr15:79237190-79237517	SK-N-SH_RA	brain:	n/a	n/a
30	POLR2A	chr15:79235719-79237760	GM19099	blood:	n/a	n/a
31	CBX3	chr15:79237042-79237731	K562	blood:	n/a	n/a
32	E2F6	chr15:79237231-79237550	K562	blood:	n/a	chr15:79237400-79237409
33	BCLAF1	chr15:79236898-79237453	GM12878	blood:	n/a	chr15:79236999-79237008
34	MAX	chr15:79236405-79237685	GM12878	blood:	n/a	n/a
35	TAF1	chr15:79237033-79237541	K562	blood:	n/a	n/a
36	MAX	chr15:79237141-79237626	SK-N-SH	brain:	n/a	n/a
37	MTA3	chr15:79234136-79237503	GM12878	blood:	n/a	n/a
38	MYC	chr15:79237327-79237450	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr15:79237286-79237467	HUVEC	blood vessel:	n/a	n/a
40	POLR2A	chr15:79237120-79237463	A549	lung:	n/a	n/a
41	MYC	chr15:79237170-79237946	MCF-7	breast:	n/a	n/a
42	POLR2A	chr15:79237113-79237445	GM12891	blood:	n/a	n/a
43	TAF1	chr15:79237197-79237487	GM12878	blood:	n/a	n/a
44	POLR2A	chr15:79236883-79238025	MCF-7	breast:	n/a	n/a
45	SIN3A	chr15:79237186-79237483	GM12878	blood:	n/a	n/a
46	TAF1	chr15:79237057-79237676	H1-hESC	embryonic stem cell:	n/a	n/a
47	ARID3A	chr15:79237276-79237591	HepG2	liver:	n/a	n/a
48	EGR1	chr15:79237224-79237586	GM12878	blood:	n/a	chr15:79237359-79237373 chr15:79237511-79237524 chr15:79237513-79237523 chr15:79237390-79237400 chr15:79237392-79237405 chr15:79237511-79237524 chr15:79237514-79237524 chr15:79237436-79237450
49	CHD1	chr15:79235702-79237473	GM12878	blood:	n/a	chr15:79237399-79237409
50	PML	chr15:79237137-79237429	GM12878	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:79237394-79237444	SK-N-SH_RA	brain:	n/a
2	chr15:79237381-79237431	Hela-S3	cervix:	n/a
3	chr15:79237394-79237444	A549	lung:	n/a
4	chr15:79237394-79237444	HAEpiC	amniotic membrane:	n/a
5	chr15:79237394-79237444	NB4	blood:	n/a
6	chr15:79237381-79237431	AG09309	skin:	n/a
7	chr15:79237381-79237431	MCF10A-Er-Src	breast:	n/a
8	chr15:79237394-79237444	AG04449	skin:	fetal
9	chr15:79237394-79237444	PANC-1	pancreas:	n/a
10	chr15:79237381-79237431	ECC-1	luminal epithelium:	n/a
11	chr15:79237394-79237444	HMEC	breast:	n/a
12	chr15:79237394-79237444	BJ	skin:	n/a
13	chr15:79237381-79237431	CMK	blood:	n/a
14	chr15:79237381-79237431	MCF-7	breast:	n/a
15	chr15:79237381-79237431	HCF	heart:	n/a
16	chr15:79237394-79237444	AG04450	lung:	fetal
17	chr15:79237381-79237431	AG10803	skin:	n/a
18	chr15:79237381-79237431	HEEpiC	esophagus:	n/a
19	chr15:79237394-79237444	SAEC	small airway:	n/a
20	chr15:79237394-79237444	ECC-1	luminal epithelium:	n/a
21	chr15:79237394-79237444	AG09309	skin:	n/a
22	chr15:79237394-79237444	BE2_C	brain:	n/a
23	chr15:79237394-79237444	GM12891	blood:	n/a
24	chr15:79237381-79237431	HRE	kidney:	n/a
25	chr15:79237394-79237444	NHBE	bronchial:	n/a
26	chr15:79237381-79237431	HRPEpiC	eye:	n/a
27	chr15:79237381-79237431	NHBE	bronchial:	n/a
28	chr15:79237381-79237431	BE2_C	brain:	n/a
29	chr15:79237394-79237444	PrEC	prostate:	n/a
30	chr15:79237381-79237431	HCM	heart:	n/a
31	chr15:79237394-79237444	K562	blood:	n/a
32	chr15:79237394-79237444	HPAEpiC	pulmonary alveolar:	n/a
33	chr15:79237394-79237444	NT2-D1	testis:	n/a
34	chr15:79237394-79237444	HCPEpiC	choroid plexus:	n/a
35	chr15:79237381-79237431	GM12892	blood:	n/a
36	chr15:79237394-79237444	HL-60	blood:	n/a
37	chr15:79237394-79237444	ovcar-3	ovarian:	n/a
38	chr15:79237381-79237431	PrEC	prostate:	n/a
39	chr15:79237394-79237444	AoSMC	blood vessel:	n/a
40	chr15:79237381-79237431	ProgFib	skin:	n/a
41	chr15:79237394-79237444	GM19239	blood:	n/a
42	chr15:79237394-79237444	MCF10A-Er-Src	breast:	n/a
43	chr15:79237381-79237431	A549	lung:	n/a
44	chr15:79237394-79237444	HNPCEpiC	eye:	n/a
45	chr15:79237381-79237431	PFSK-1	brain:	n/a
46	chr15:79237381-79237431	T-47D	breast:	n/a
47	chr15:79237381-79237431	AoSMC	blood vessel:	n/a
48	chr15:79237394-79237444	HRE	kidney:	n/a
49	chr15:79237394-79237444	HCM	heart:	n/a
50	chr15:79237394-79237444	AG10803	skin:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:79164120..79166260-chr15:79235714..79238649,3	K562	blood:
2	chr15:79228914..79232769-chr15:79235901..79239047,4	MCF-7	breast:
3	chr15:79222345..79225252-chr15:79235201..79237549,2	K562	blood:
4	chr15:79164120..79166028-chr15:79235714..79238649,2	K562	blood:
5	chr15:79224751..79228848-chr15:79235939..79238870,4	MCF-7	breast:
6	chr15:79219205..79223895-chr15:79234790..79239038,6	MCF-7	breast:
7	chr15:79229734..79233307-chr15:79235000..79238757,6	MCF-7	breast:
8	chr15:79223240..79225058-chr15:79235224..79237418,3	MCF-7	breast:
9	chr15:79228950..79233188-chr15:79235013..79237607,6	K562	blood:
10	chr15:79236829..79239228-chr15:79240562..79242151,2	K562	blood:

No data

Variant related genes	Relation type
CTSH	TF binding region
CTSH	CpG island
ENSG00000185787	Chromatin interaction
ENSG00000103811	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33573	chr15:79053484-79293881	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3428448	chr15:79236847-79239745	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:79235400-79237600	Active TSS	Fetal Intestine Small	intestine
2	chr15:79235400-79237600	Active TSS	GM12878-XiMat	blood
3	chr15:79235400-79238000	Active TSS	Brain Hippocampus Middle	brain
4	chr15:79235600-79237600	Active TSS	Gastric	stomach
5	chr15:79236000-79237800	Active TSS	Fetal Intestine Large	intestine
6	chr15:79236000-79237800	Active TSS	Fetal Kidney	kidney
7	chr15:79236200-79237400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
8	chr15:79236200-79237400	Flanking Active TSS	Spleen	Spleen
9	chr15:79236200-79237800	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr15:79236200-79237800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr15:79236200-79237800	Active TSS	Psoas Muscle	Psoas
12	chr15:79236200-79237800	Flanking Active TSS	Right Ventricle	heart
13	chr15:79236200-79237800	Bivalent/Poised TSS	Thymus	Thymus
14	chr15:79236200-79238000	Active TSS	Brain Angular Gyrus	brain
15	chr15:79236400-79237400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
16	chr15:79236400-79237400	Flanking Active TSS	Esophagus	oesophagus
17	chr15:79236400-79237400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
18	chr15:79236400-79237400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
19	chr15:79236400-79237600	Flanking Active TSS	Pancreas	Pancrea
20	chr15:79236400-79237600	Active TSS	Rectal Mucosa Donor 31	rectum
21	chr15:79236400-79237800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr15:79236400-79237800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
23	chr15:79236400-79237800	Active TSS	Brain Substantia Nigra	brain
24	chr15:79236400-79237800	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr15:79236400-79238000	Active TSS	H9 Cell Line	embryonic stem cell
26	chr15:79236400-79238000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr15:79236400-79238000	Bivalent Enhancer	Fetal Brain Male	brain
28	chr15:79236600-79237400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr15:79236600-79237400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr15:79236600-79237400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
31	chr15:79236600-79237400	Flanking Active TSS	HMEC	breast
32	chr15:79236600-79237800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
33	chr15:79236600-79237800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
34	chr15:79236600-79237800	Flanking Active TSS	Colonic Mucosa	Colon
35	chr15:79236600-79237800	Bivalent/Poised TSS	Fetal Lung	lung
36	chr15:79236600-79237800	Flanking Active TSS	Placenta	Placenta
37	chr15:79236600-79238000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr15:79236800-79237400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr15:79236800-79237400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr15:79236800-79237400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr15:79236800-79237400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr15:79236800-79237400	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
43	chr15:79236800-79237400	Active TSS	Small Intestine	intestine
44	chr15:79236800-79237400	Flanking Active TSS	Stomach Mucosa	stomach
45	chr15:79236800-79237400	Flanking Active TSS	Dnd41	blood
46	chr15:79236800-79237600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr15:79236800-79237800	Active TSS	Aorta	Aorta
48	chr15:79236800-79237800	Active TSS	Left Ventricle	heart
49	chr15:79236800-79238000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr15:79236800-79238000	Active TSS	Brain Cingulate Gyrus	brain

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