Variant report

Variant	esv3354015
Chromosome Location	chr7:4859490-4859661
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr7:4859485-4859715	K562	blood:	n/a	chr7:4859647-4859655 chr7:4859648-4859658

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:4859448-4859498	NHBE	bronchial:	n/a
2	chr7:4859448-4859498	K562	blood:	n/a
3	chr7:4859448-4859498	AG04450	lung:	fetal
4	chr7:4859448-4859498	HMEC	breast:	n/a
5	chr7:4859448-4859498	HepG2	liver:	n/a
6	chr7:4859448-4859498	MCF10A-Er-Src	breast:	n/a
7	chr7:4859448-4859498	PANC-1	pancreas:	n/a
8	chr7:4859448-4859498	GM12878	blood:	n/a
9	chr7:4859448-4859498	HRPEpiC	eye:	n/a
10	chr7:4859448-4859498	SK-N-MC	brain:	n/a
11	chr7:4859448-4859498	HL-60	blood:	n/a
12	chr7:4859448-4859498	GM12892	blood:	n/a
13	chr7:4859448-4859498	HNPCEpiC	eye:	n/a
14	chr7:4859448-4859498	GM06990	blood:	n/a
15	chr7:4859448-4859498	BJ	skin:	n/a
16	chr7:4859448-4859498	AoSMC	blood vessel:	n/a
17	chr7:4859448-4859498	SAEC	small airway:	n/a
18	chr7:4859448-4859498	HRCEpiC	kidney:	n/a
19	chr7:4859448-4859498	NH-A	brain:	n/a
20	chr7:4859448-4859498	HCPEpiC	choroid plexus:	n/a
21	chr7:4859448-4859498	ovcar-3	ovarian:	n/a
22	chr7:4859448-4859498	GM19239	blood:	n/a
23	chr7:4859448-4859498	NHDF-neo	bronchial:	n/a
24	chr7:4859448-4859498	NB4	blood:	n/a
25	chr7:4859448-4859498	Caco-2	colon:	n/a
26	chr7:4859448-4859498	RPTEC	kidney:	n/a
27	chr7:4859448-4859498	U87	brain:	n/a
28	chr7:4859448-4859498	HEEpiC	esophagus:	n/a
29	chr7:4859448-4859498	Jurkat	blood:	n/a
30	chr7:4859448-4859498	GM12891	blood:	n/a
31	chr7:4859448-4859498	AG09319	gingival:	n/a
32	chr7:4859448-4859498	Hela-S3	cervix:	n/a
33	chr7:4859448-4859498	HIPEpiC	eye:	n/a
34	chr7:4859448-4859498	AG09309	skin:	n/a
35	chr7:4859448-4859498	HEK293	kidney:	embryo
36	chr7:4859448-4859498	LNCaP	prostate:	n/a
37	chr7:4859448-4859498	SK-N-SH_RA	brain:	n/a
38	chr7:4859448-4859498	IMR90	lung:	fetal
39	chr7:4859448-4859498	BE2_C	brain:	n/a
40	chr7:4859448-4859498	HPAEpiC	pulmonary alveolar:	n/a
41	chr7:4859448-4859498	PFSK-1	brain:	n/a
42	chr7:4859448-4859498	CMK	blood:	n/a
43	chr7:4859448-4859498	HRE	kidney:	n/a
44	chr7:4859448-4859498	SKMC	muscle:	n/a
45	chr7:4859448-4859498	Hepatocyte	liver:	n/a
46	chr7:4859448-4859498	SK-N-SH	brain:	n/a
47	chr7:4859448-4859498	ProgFib	skin:	n/a
48	chr7:4859448-4859498	AG10803	skin:	n/a
49	chr7:4859448-4859498	A549	lung:	n/a
50	chr7:4859448-4859498	HCT-116	colon:	n/a

No data

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

Extended variants
information (count: 10 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28604500	chr7:4859493-4859494	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs576065525	chr7:4859497-4859498	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs543569313	chr7:4859508-4859509	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs561754499	chr7:4859524-4859525	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs529127707	chr7:4859559-4859560	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs569707160	chr7:4859578-4859579	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs150019861	chr7:4859594-4859595	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs559726355	chr7:4859622-4859623	Weak transcription Strong transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs28609535	chr7:4859646-4859647	Weak transcription Strong transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs144991341	chr7:4859653-4859654	Weak transcription Strong transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Glioblastoma multiforme	21525872	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4832400-4859800	Weak transcription	Right Atrium	heart
2	chr7:4834800-4876800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:4836200-4877600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:4838400-4859800	Weak transcription	Left Ventricle	heart
5	chr7:4846800-4876600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr7:4847200-4869600	Weak transcription	Brain Substantia Nigra	brain
7	chr7:4848000-4863200	Weak transcription	Fetal Brain Male	brain
8	chr7:4849200-4875800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:4850800-4873800	Weak transcription	Colon Smooth Muscle	Colon
10	chr7:4853800-4869000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:4854600-4859800	Weak transcription	Spleen	Spleen
12	chr7:4855000-4872600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:4855000-4872800	Weak transcription	Fetal Brain Female	brain
14	chr7:4856000-4864000	Weak transcription	Brain Anterior Caudate	brain
15	chr7:4856200-4861200	Enhancers	Fetal Muscle Leg	muscle
16	chr7:4856600-4860000	Weak transcription	Lung	lung
17	chr7:4857000-4861200	Enhancers	Fetal Stomach	stomach
18	chr7:4857800-4861200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr7:4858200-4859800	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr7:4858200-4860400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:4858200-4861200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr7:4858200-4873400	Weak transcription	Brain Germinal Matrix	brain
23	chr7:4858400-4859800	Weak transcription	Right Ventricle	heart
24	chr7:4858400-4860000	Weak transcription	Fetal Lung	lung
25	chr7:4858800-4861200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
26	chr7:4859000-4859600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:4859000-4859600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr7:4859000-4860000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr7:4859000-4860800	Bivalent Enhancer	Adipose Nuclei	Adipose
30	chr7:4859000-4861000	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr7:4859000-4863400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr7:4859200-4859600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:4859200-4860000	Bivalent Enhancer	Placenta	Placenta
34	chr7:4859200-4860400	Enhancers	Fetal Heart	heart
35	chr7:4859200-4862600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr7:4859200-4879800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr7:4859400-4859600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:4859400-4861600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr7:4859600-4859800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:4859600-4862200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:4859600-4862400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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