Variant report

Variant	esv2479856
Chromosome Location	chr4:1299516-1299517
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:122)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL1	chr4:1298902-1300342	HCT-116	colon:	n/a	n/a
2	JUND	chr4:1298851-1300376	HCT-116	colon:	n/a	chr4:1300048-1300059 chr4:1299313-1299324
3	MAFK	chr4:1299133-1299696	HepG2	liver:	n/a	chr4:1299308-1299323
4	POLR2A	chr4:1299410-1300117	K562	blood:	n/a	n/a
5	POLR2A	chr4:1299038-1299522	HCT-116	colon:	n/a	n/a
6	POLR2A	chr4:1299371-1300048	K562	blood:	n/a	n/a
7	POLR2A	chr4:1299358-1300161	HL-60	blood:	n/a	n/a
8	POLR2A	chr4:1299393-1301435	K562	blood:	n/a	n/a
9	POLR2A	chr4:1298949-1299765	GM12892	blood:	n/a	n/a
10	POLR2A	chr4:1299268-1300061	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:1299466-1299516	MCF10A-Er-Src	breast:	n/a
2	chr4:1299466-1299516	RPTEC	kidney:	n/a
3	chr4:1299514-1299564	Jurkat	blood:	n/a
4	chr4:1299466-1299516	HMEC	breast:	n/a
5	chr4:1299514-1299564	Hela-S3	cervix:	n/a
6	chr4:1299514-1299564	GM06990	blood:	n/a
7	chr4:1299514-1299564	NH-A	brain:	n/a
8	chr4:1299466-1299516	HPAEpiC	pulmonary alveolar:	n/a
9	chr4:1299466-1299516	HCF	heart:	n/a
10	chr4:1299514-1299564	AG09319	gingival:	n/a
11	chr4:1299514-1299564	HEK293	kidney:	embryo
12	chr4:1299466-1299516	HUVEC	blood vessel:	n/a
13	chr4:1299514-1299564	HCF	heart:	n/a
14	chr4:1299514-1299564	H1-hESC	embryonic stem cell:	embryo
15	chr4:1299466-1299516	PrEC	prostate:	n/a
16	chr4:1299514-1299564	GM12878	blood:	n/a
17	chr4:1299514-1299564	BJ	skin:	n/a
18	chr4:1299466-1299516	ProgFib	skin:	n/a
19	chr4:1299466-1299516	Caco-2	colon:	n/a
20	chr4:1299514-1299564	IMR90	lung:	fetal
21	chr4:1299466-1299516	AG04450	lung:	fetal
22	chr4:1299466-1299516	HCT-116	colon:	n/a
23	chr4:1299466-1299516	HEEpiC	esophagus:	n/a
24	chr4:1299466-1299516	SK-N-SH	brain:	n/a
25	chr4:1299466-1299516	AG10803	skin:	n/a
26	chr4:1299466-1299516	AG09309	skin:	n/a
27	chr4:1299514-1299564	HAEpiC	amniotic membrane:	n/a
28	chr4:1299514-1299564	HIPEpiC	eye:	n/a
29	chr4:1299466-1299516	SKMC	muscle:	n/a
30	chr4:1299514-1299564	HRE	kidney:	n/a
31	chr4:1299514-1299564	HEEpiC	esophagus:	n/a
32	chr4:1299514-1299564	HCPEpiC	choroid plexus:	n/a
33	chr4:1299514-1299564	HL-60	blood:	n/a
34	chr4:1299466-1299516	ovcar-3	ovarian:	n/a
35	chr4:1299514-1299564	MCF-7	breast:	n/a
36	chr4:1299514-1299564	U87	brain:	n/a
37	chr4:1299466-1299516	GM12891	blood:	n/a
38	chr4:1299466-1299516	HNPCEpiC	eye:	n/a
39	chr4:1299514-1299564	HRPEpiC	eye:	n/a
40	chr4:1299466-1299516	HCM	heart:	n/a
41	chr4:1299466-1299516	PFSK-1	brain:	n/a
42	chr4:1299466-1299516	ECC-1	luminal epithelium:	n/a
43	chr4:1299466-1299516	AoSMC	blood vessel:	n/a
44	chr4:1299514-1299564	PFSK-1	brain:	n/a
45	chr4:1299514-1299564	GM12891	blood:	n/a
46	chr4:1299514-1299564	AG09309	skin:	n/a
47	chr4:1299514-1299564	GM12892	blood:	n/a
48	chr4:1299514-1299564	NHBE	bronchial:	n/a
49	chr4:1299466-1299516	LNCaP	prostate:	n/a
50	chr4:1299514-1299564	AoSMC	blood vessel:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:1298051..1300752-chr4:1304629..1306876,2	MCF-7	breast:
2	chr4:1236665..1239012-chr4:1297497..1299590,2	K562	blood:
3	chr4:1232098..1233809-chr4:1299016..1301525,2	K562	blood:
4	chr4:1240987..1244613-chr4:1297662..1300562,3	MCF-7	breast:
5	chr4:1297989..1299587-chr4:1301090..1302609,2	K562	blood:

No data

Variant related genes	Relation type
MAEA	TF binding region
MAEA	CpG island
ENSG00000196810	chromatin interactions
ENSG00000159692	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 64 )

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	rs559462233	chr4:1299516-1299517	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs59944614	chr4:1299517-1299518	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Wolf-Hirschhorn syndrome	21549014	CNVD
Breast cancer	21806811	CNVD
Wolf-Hirschhorn syndrome	22283845	CNVD
Wolf-Hirschhorn syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Wolf-Hirschhorn syndrome	22470819	CNVD
Wolf-Hirschhorn syndrome	18541967	CNVD
sporadic birth defects	19047251	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17142309	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	20932292	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Type 2 diabetes	21754918	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1285200-1303400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:1285400-1302400	Weak transcription	Fetal Kidney	kidney
3	chr4:1285800-1302200	Weak transcription	NHDF-Ad	bronchial
4	chr4:1286200-1302400	Weak transcription	Fetal Brain Male	brain
5	chr4:1289400-1299800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr4:1289400-1302200	Weak transcription	Fetal Heart	heart
7	chr4:1290000-1302400	Strong transcription	Fetal Stomach	stomach
8	chr4:1290400-1301200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:1290400-1302200	Weak transcription	Right Atrium	heart
10	chr4:1290800-1302600	Weak transcription	Colon Smooth Muscle	Colon
11	chr4:1292000-1302200	Weak transcription	Fetal Lung	lung
12	chr4:1292000-1302600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:1292000-1302600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr4:1292000-1303400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr4:1292600-1302200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr4:1293200-1312000	Weak transcription	Hela-S3	cervix
17	chr4:1293600-1301800	Weak transcription	Brain Anterior Caudate	brain
18	chr4:1293800-1302200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr4:1293800-1303400	Weak transcription	Aorta	Aorta
20	chr4:1294200-1302000	Weak transcription	Osteobl	bone
21	chr4:1294400-1301800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr4:1294400-1302200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr4:1294400-1302600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr4:1294600-1300600	Weak transcription	Psoas Muscle	Psoas
25	chr4:1294600-1301000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr4:1294800-1300000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr4:1294800-1302000	Weak transcription	Brain Angular Gyrus	brain
28	chr4:1294800-1302200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr4:1294800-1302200	Weak transcription	Brain Substantia Nigra	brain
30	chr4:1295000-1301400	Weak transcription	NHLF	lung
31	chr4:1295000-1302000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr4:1295000-1302400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr4:1295000-1302600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr4:1295200-1299800	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr4:1295200-1301800	Weak transcription	Left Ventricle	heart
36	chr4:1295200-1302000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr4:1295200-1302600	Weak transcription	Brain Germinal Matrix	brain
38	chr4:1295200-1303400	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr4:1295200-1303400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr4:1295400-1299800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr4:1295400-1300400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr4:1295400-1302800	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr4:1295400-1302800	Weak transcription	NH-A	brain
44	chr4:1295600-1302000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr4:1295600-1302000	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr4:1295600-1302200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr4:1295800-1301800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr4:1295800-1302600	Weak transcription	HSMMtube	muscle
49	chr4:1296000-1301800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr4:1296000-1302000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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