Variant report

Variant	esv3363430
Chromosome Location	chr4:777057-777590
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr4:777218-777461	GM12878	blood:	n/a	chr4:777290-777301 chr4:777350-777361 chr4:777350-777360
2	POLR2A	chr4:776880-777196	MCF-7	breast:	n/a	n/a
3	POLR2A	chr4:777253-777270	HepG2	liver:	n/a	n/a
4	POLR2A	chr4:776993-777237	MCF-7	breast:	n/a	n/a
5	POLR2A	chr4:776943-777228	MCF-7	breast:	n/a	n/a
6	POLR2A	chr4:770558-777225	HepG2	liver:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:758084..763800-chr4:770671..778725,12	MCF-7	breast:
2	chr4:666044..670200-chr4:772961..777371,6	K562	blood:
3	chr4:773678..778564-chr4:818343..821273,5	K562	blood:
4	chr4:774284..777559-chr4:817781..820963,6	MCF-7	breast:
5	chr4:775742..777793-chr4:821294..823838,2	MCF-7	breast:
6	chr4:677843..680231-chr4:776162..778383,2	MCF-7	breast:
7	chr15:70760462..70762152-chr4:775957..778885,2	MCF-7	breast:
8	chr4:670043..672263-chr4:777065..778997,2	MCF-7	breast:
9	chr4:774335..777276-chr4:923482..926205,2	K562	blood:
10	chr4:775968..777707-chr4:794357..796914,2	MCF-7	breast:
11	chr4:776936..779756-chr4:805592..808402,2	MCF-7	breast:
12	chr4:774894..778846-chr4:965454..968160,4	MCF-7	breast:
13	chr4:735724..738302-chr4:774438..777111,2	MCF-7	breast:
14	chr4:675173..676793-chr4:777348..779688,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000249592	TF binding region
ENSG00000215375	chromatin interactions
ENSG00000127419	chromatin interactions
ENSG00000168993	chromatin interactions
ENSG00000178950	chromatin interactions
ENSG00000185619	chromatin interactions
ENSG00000233799	chromatin interactions
ENSG00000145214	chromatin interactions
ENSG00000169026	chromatin interactions
ENSG00000169020	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185455632	chr4:777060-777061	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
2	rs189558846	chr4:777081-777082	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs374644010	chr4:777104-777105	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
4	rs529190050	chr4:777125-777126	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs547334387	chr4:777154-777155	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs565955309	chr4:777158-777159	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs539483591	chr4:777183-777184	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs557761270	chr4:777191-777192	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs569798870	chr4:777201-777202	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs537107766	chr4:777227-777228	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs181291653	chr4:777242-777243	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs574896607	chr4:777253-777254	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs542402424	chr4:777344-777345	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs554218172	chr4:777352-777353	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs138744236	chr4:777418-777419	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs373035396	chr4:777421-777422	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs572677970	chr4:777498-777499	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs7655749	chr4:777508-777509	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs139016197	chr4:777514-777515	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs114081332	chr4:777519-777520	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs543464582	chr4:777543-777544	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs7674850	chr4:777556-777557	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs529116995	chr4:777562-777563	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs143769270	chr4:777569-777570	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs79643904	chr4:777582-777583	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
Type 2 diabetes	21754918	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:776200-777200	Flanking Active TSS	Liver	Liver
2	chr4:776400-777200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:776400-777200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:776400-777200	Enhancers	Fetal Lung	lung
5	chr4:776400-777200	Enhancers	Lung	lung
6	chr4:776400-777200	Enhancers	Right Atrium	heart
7	chr4:776400-777400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr4:776400-777800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr4:776400-777800	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr4:776400-778000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:776400-778800	Weak transcription	Gastric	stomach
12	chr4:776400-779400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr4:776600-777200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:776600-777200	Enhancers	Brain Anterior Caudate	brain
15	chr4:776600-777200	Enhancers	Brain Hippocampus Middle	brain
16	chr4:776600-777200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr4:776600-777200	Enhancers	Fetal Muscle Trunk	muscle
18	chr4:776600-777200	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr4:776600-777200	Enhancers	Right Ventricle	heart
20	chr4:776600-777200	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr4:776600-777200	Enhancers	Stomach Mucosa	stomach
22	chr4:776600-777200	Enhancers	HMEC	breast
23	chr4:776600-777400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:776600-777400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:776600-777400	Enhancers	Adipose Nuclei	Adipose
26	chr4:776600-777400	Enhancers	Colonic Mucosa	Colon
27	chr4:776600-777400	Enhancers	Fetal Intestine Small	intestine
28	chr4:776600-777400	Enhancers	Pancreas	Pancrea
29	chr4:776600-777400	Enhancers	Stomach Smooth Muscle	stomach
30	chr4:776600-777600	Enhancers	Brain Cingulate Gyrus	brain
31	chr4:776600-777600	Enhancers	Fetal Intestine Large	intestine
32	chr4:776600-777600	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr4:776600-777600	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr4:776600-778000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr4:776600-778600	Weak transcription	Esophagus	oesophagus
36	chr4:776800-777200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:776800-777200	Weak transcription	GM12878-XiMat	blood
38	chr4:776800-777800	Flanking Active TSS	HepG2	liver
39	chr4:777000-777200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr4:777000-777200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr4:777000-777200	Flanking Active TSS	Placenta Amnion	Placenta Amnion
42	chr4:777000-777400	Bivalent Enhancer	Fetal Stomach	stomach
43	chr4:777000-777800	Enhancers	Brain Substantia Nigra	brain
44	chr4:777000-778800	Enhancers	Placenta	Placenta
45	chr4:777000-779000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr4:777200-777400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr4:777200-777400	Enhancers	Placenta Amnion	Placenta Amnion
48	chr4:777200-777400	Enhancers	GM12878-XiMat	blood
49	chr4:777200-777600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr4:777200-777800	Enhancers	Liver	Liver

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