Variant report

Variant	esv3348370
Chromosome Location	chr7:4014626-4018124
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:4017263..4020114-chr7:4033436..4035311,2	MCF-7	breast:
2	chr7:4011902..4014753-chr7:4043521..4046238,2	MCF-7	breast:

Extended variants
information (count: 285 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:285 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369557495	chr7:4014634-4014635	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562003741	chr7:4014639-4014640	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs111949832	chr7:4014645-4014646	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534257539	chr7:4014648-4014649	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550475920	chr7:4014659-4014660	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564285752	chr7:4014681-4014682	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543773982	chr7:4014692-4014693	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533093378	chr7:4014697-4014698	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376360674	chr7:4014711-4014712	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142207996	chr7:4014732-4014733	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143122990	chr7:4014737-4014738	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs368784608	chr7:4014738-4014739	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373932818	chr7:4014746-4014747	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78488927	chr7:4014759-4014760	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7786395	chr7:4014760-4014761	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs557304768	chr7:4014777-4014778	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148121339	chr7:4014789-4014790	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189019474	chr7:4014793-4014794	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553653927	chr7:4014813-4014814	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs7805988	chr7:4014814-4014815	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs57016764	chr7:4014835-4014836	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs61087231	chr7:4014836-4014837	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542213665	chr7:4014841-4014842	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs149061872	chr7:4014891-4014892	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562234956	chr7:4014971-4014972	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs141003227	chr7:4014976-4014977	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs193020757	chr7:4014983-4014984	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs35757911	chr7:4014984-4014985	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs564167495	chr7:4014989-4014990	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184071309	chr7:4014990-4014991	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546494371	chr7:4014993-4014994	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559980533	chr7:4015000-4015001	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528880168	chr7:4015003-4015004	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372664729	chr7:4015023-4015024	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568818305	chr7:4015040-4015041	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537582949	chr7:4015050-4015051	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559265947	chr7:4015055-4015056	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs377516458	chr7:4015066-4015067	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570956326	chr7:4015068-4015069	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539995706	chr7:4015077-4015078	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553721450	chr7:4015130-4015131	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573552521	chr7:4015140-4015141	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs188273932	chr7:4015143-4015144	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs555515068	chr7:4015144-4015145	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs116243150	chr7:4015220-4015221	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs544427269	chr7:4015243-4015244	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192231090	chr7:4015245-4015246	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs577715390	chr7:4015246-4015247	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs115454039	chr7:4015253-4015254	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs150210299	chr7:4015260-4015261	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Chordoma	21602918	CNVD
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
Spondylocostal dysostosis	21085971	CNVD
Mental retardation	17901693	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	22286061	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	21645411	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3988600-4032600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr7:3989400-4031000	Weak transcription	Right Ventricle	heart
3	chr7:3989800-4020800	Weak transcription	Colon Smooth Muscle	Colon
4	chr7:3996200-4017200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:3996400-4015800	Weak transcription	HSMM	muscle
6	chr7:3996400-4037600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr7:3997000-4019400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:3998000-4020800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr7:3998400-4045600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr7:4000200-4016200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr7:4000200-4032600	Weak transcription	Adipose Nuclei	Adipose
12	chr7:4001800-4016800	Weak transcription	Fetal Brain Male	brain
13	chr7:4001800-4016800	Weak transcription	Fetal Kidney	kidney
14	chr7:4002400-4016600	Weak transcription	Fetal Muscle Leg	muscle
15	chr7:4007800-4027200	Weak transcription	Spleen	Spleen
16	chr7:4008000-4016800	Weak transcription	Brain Germinal Matrix	brain
17	chr7:4008000-4020600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr7:4008000-4021600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr7:4008000-4030400	Weak transcription	Gastric	stomach
20	chr7:4008200-4020800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr7:4008600-4015200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr7:4010200-4016200	Weak transcription	Ovary	ovary
23	chr7:4012600-4015600	Strong transcription	Aorta	Aorta
24	chr7:4013400-4021800	Weak transcription	Fetal Lung	lung
25	chr7:4013800-4015600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr7:4013800-4015600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:4013800-4015600	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr7:4014000-4015600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:4014000-4015600	ZNF genes & repeats	Fetal Intestine Small	intestine
30	chr7:4014000-4015600	ZNF genes & repeats	Fetal Stomach	stomach
31	chr7:4014200-4015200	Strong transcription	Pancreas	Pancrea
32	chr7:4014200-4015600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr7:4014200-4017000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr7:4014200-4018400	Weak transcription	Fetal Heart	heart
35	chr7:4014400-4015200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr7:4014600-4015200	Weak transcription	Fetal Brain Female	brain
37	chr7:4014600-4015400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr7:4014600-4015400	Strong transcription	Fetal Intestine Large	intestine
39	chr7:4014600-4015400	Enhancers	HSMMtube	muscle
40	chr7:4014600-4015600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr7:4014600-4016800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr7:4015200-4015400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
43	chr7:4015200-4015400	ZNF genes & repeats	Fetal Brain Female	brain
44	chr7:4015200-4015400	Genic enhancers	Pancreas	Pancrea
45	chr7:4015200-4015600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr7:4015400-4015600	ZNF genes & repeats	Fetal Intestine Large	intestine
47	chr7:4015400-4017200	Weak transcription	Pancreas	Pancrea
48	chr7:4015400-4018800	Weak transcription	Fetal Brain Female	brain
49	chr7:4015400-4031000	Weak transcription	HSMMtube	muscle
50	chr7:4015600-4016800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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