Variant report

Variant	esv3344548
Chromosome Location	chr7:3793426-3797924
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	chr7:3450055..3452486-chr7:3794915..3797670,2	MCF-7	breast:
2	chr7:3793998..3797473-chr7:3798195..3801316,4	MCF-7	breast:

Extended variants
information (count: 290 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:290 , 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	rs569826507	chr7:3793427-3793428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs118161552	chr7:3793435-3793436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558518352	chr7:3793441-3793442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572295954	chr7:3793448-3793449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534646006	chr7:3793449-3793450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528847616	chr7:3793452-3793453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs17133785	chr7:3793459-3793460	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs578052508	chr7:3793461-3793462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370667927	chr7:3793470-3793471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574450629	chr7:3793510-3793511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs151139973	chr7:3793516-3793517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140417814	chr7:3793517-3793518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563325303	chr7:3793521-3793522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181943343	chr7:3793534-3793535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373035139	chr7:3793541-3793542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545605519	chr7:3793546-3793547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186046857	chr7:3793565-3793566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190816638	chr7:3793585-3793586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560712463	chr7:3793632-3793633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369453337	chr7:3793641-3793642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561643710	chr7:3793644-3793645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113707691	chr7:3793698-3793699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563708966	chr7:3793764-3793765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549769805	chr7:3793779-3793780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531210108	chr7:3793795-3793796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs28650199	chr7:3793814-3793815	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs370867740	chr7:3793832-3793833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs28689669	chr7:3793837-3793838	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs115901240	chr7:3793842-3793843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534840882	chr7:3793875-3793876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201339292	chr7:3793905-3793906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554525139	chr7:3793941-3793942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373370728	chr7:3793985-3793986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73304276	chr7:3793995-3793996	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs368540855	chr7:3794018-3794019	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs537040895	chr7:3794023-3794024	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs557036395	chr7:3794038-3794039	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs182587973	chr7:3794054-3794055	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs73032362	chr7:3794105-3794106	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs145004757	chr7:3794119-3794120	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs188124890	chr7:3794127-3794128	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs572515515	chr7:3794131-3794132	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs60515430	chr7:3794155-3794156	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs150337683	chr7:3794156-3794157	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs397961284	chr7:3794160-3794161	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs142133181	chr7:3794182-3794183	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs561202460	chr7:3794200-3794201	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs191490200	chr7:3794203-3794204	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs113320911	chr7:3794209-3794210	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs6957538	chr7:3794233-3794234	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:79)

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

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3773000-3820000	Weak transcription	Pancreas	Pancrea
2	chr7:3780200-3795400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:3782600-3800200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:3788200-3794000	Weak transcription	Fetal Lung	lung
5	chr7:3790400-3794000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr7:3791600-3793600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:3792800-3801800	Weak transcription	Gastric	stomach
8	chr7:3793000-3793600	Enhancers	Fetal Brain Female	brain
9	chr7:3793000-3795000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr7:3793000-3795000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr7:3793200-3793800	Weak transcription	Fetal Brain Male	brain
12	chr7:3793200-3794000	Enhancers	Brain Anterior Caudate	brain
13	chr7:3793200-3794400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr7:3793200-3794800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:3793200-3795000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:3793200-3795000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr7:3793200-3795000	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr7:3793200-3795400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:3793400-3796600	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr7:3793600-3794000	Enhancers	Brain Cingulate Gyrus	brain
21	chr7:3793600-3794000	Weak transcription	Fetal Brain Female	brain
22	chr7:3793600-3794200	Enhancers	Brain Germinal Matrix	brain
23	chr7:3793600-3794400	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr7:3793600-3794600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr7:3793600-3794800	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr7:3793600-3795000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:3793600-3795000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr7:3793600-3795600	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr7:3793800-3794000	Enhancers	Brain Hippocampus Middle	brain
30	chr7:3793800-3795000	Enhancers	Fetal Brain Male	brain
31	chr7:3794000-3794200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:3794000-3794200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:3794000-3794200	Flanking Active TSS	Brain Hippocampus Middle	brain
34	chr7:3794000-3794200	Enhancers	Brain Substantia Nigra	brain
35	chr7:3794000-3794200	Enhancers	Stomach Smooth Muscle	stomach
36	chr7:3794000-3794200	Enhancers	NH-A	brain
37	chr7:3794000-3794400	Flanking Active TSS	Brain Cingulate Gyrus	brain
38	chr7:3794000-3794400	Enhancers	Fetal Brain Female	brain
39	chr7:3794000-3794400	Enhancers	Fetal Heart	heart
40	chr7:3794000-3794400	Enhancers	Fetal Lung	lung
41	chr7:3794000-3795000	Enhancers	H1 Cell Line	embryonic stem cell
42	chr7:3794000-3795000	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr7:3794000-3795200	Active TSS	Brain Anterior Caudate	brain
44	chr7:3794000-3795200	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr7:3794200-3794400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr7:3794200-3794400	Flanking Active TSS	Brain Substantia Nigra	brain
47	chr7:3794200-3794600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr7:3794200-3794600	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr7:3794200-3794800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr7:3794200-3794800	Active TSS	Brain Angular Gyrus	brain

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