Variant report

Variant	esv3360648
Chromosome Location	chr7:3992851-3995399
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	chr7:3991662..3993972-chr7:3998334..4001019,2	MCF-7	breast:

Extended variants
information (count: 164 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:164 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190272552	chr7:3992855-3992856	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138803755	chr7:3992867-3992868	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564678250	chr7:3992883-3992884	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191620917	chr7:3992893-3992894	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547172567	chr7:3992911-3992912	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529607343	chr7:3992927-3992928	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549731173	chr7:3992949-3992950	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184257094	chr7:3992951-3992952	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs115120313	chr7:3992963-3992964	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149361435	chr7:3992965-3992966	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571724073	chr7:3992969-3992970	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs111949053	chr7:3992981-3992982	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146297222	chr7:3992990-3992991	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547365664	chr7:3993001-3993002	Enhancers Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs573722358	chr7:3993010-3993011	Enhancers Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs115273742	chr7:3993027-3993028	Enhancers Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs556068690	chr7:3993044-3993045	Enhancers Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs188151148	chr7:3993108-3993109	Enhancers Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs544612478	chr7:3993113-3993114	Enhancers Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs557103693	chr7:3993171-3993172	Enhancers Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs112100807	chr7:3993178-3993179	Enhancers Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs139774930	chr7:3993181-3993182	Enhancers Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs549260182	chr7:3993193-3993194	Enhancers Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs540733756	chr7:3993200-3993201	Enhancers Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs565998724	chr7:3993201-3993202	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143084822	chr7:3993204-3993205	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543239071	chr7:3993234-3993235	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs146140661	chr7:3993237-3993238	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532004380	chr7:3993253-3993254	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544168383	chr7:3993255-3993256	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551802402	chr7:3993274-3993275	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs74346445	chr7:3993287-3993288	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs180986821	chr7:3993290-3993291	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs187271559	chr7:3993296-3993297	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs117226677	chr7:3993310-3993311	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536081181	chr7:3993316-3993317	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs148771197	chr7:3993352-3993353	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569615158	chr7:3993354-3993355	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs538514409	chr7:3993358-3993359	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs190566814	chr7:3993411-3993412	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142402450	chr7:3993413-3993414	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs151179380	chr7:3993420-3993421	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs60946559	chr7:3993430-3993431	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs117833144	chr7:3993494-3993495	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543253447	chr7:3993497-3993498	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563025714	chr7:3993518-3993519	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532065588	chr7:3993524-3993525	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs368267903	chr7:3993531-3993532	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs545685088	chr7:3993533-3993534	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565559647	chr7:3993577-3993578	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3987600-3995200	Weak transcription	Esophagus	oesophagus
2	chr7:3988400-4005400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:3988600-4010000	Weak transcription	Left Ventricle	heart
4	chr7:3988600-4032600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr7:3988800-3994200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:3988800-3995000	Weak transcription	Spleen	Spleen
7	chr7:3988800-4001600	Weak transcription	Right Atrium	heart
8	chr7:3989000-3995000	Weak transcription	HSMM	muscle
9	chr7:3989000-3995200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr7:3989200-3995000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr7:3989200-4013800	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr7:3989400-3997400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:3989400-4031000	Weak transcription	Right Ventricle	heart
14	chr7:3989800-4002400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr7:3989800-4020800	Weak transcription	Colon Smooth Muscle	Colon
16	chr7:3990000-3999800	Weak transcription	Fetal Brain Male	brain
17	chr7:3990200-3995000	Weak transcription	HSMMtube	muscle
18	chr7:3990200-3995400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:3990600-3995200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr7:3991200-3995200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:3991400-3993200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:3991400-3994600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr7:3991400-3994600	Weak transcription	Aorta	Aorta
24	chr7:3991400-3995200	Weak transcription	Fetal Stomach	stomach
25	chr7:3991600-3993000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr7:3991600-3994600	Weak transcription	Fetal Intestine Small	intestine
27	chr7:3991600-3995200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:3991600-3997800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr7:3991600-4001400	Weak transcription	Stomach Smooth Muscle	stomach
30	chr7:3991800-3993000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr7:3991800-3995800	Enhancers	HepG2	liver
32	chr7:3991800-4001400	Weak transcription	Fetal Brain Female	brain
33	chr7:3992000-3994600	Weak transcription	Pancreas	Pancrea
34	chr7:3992000-3995200	Weak transcription	Fetal Lung	lung
35	chr7:3992600-3993000	Enhancers	Primary B cells from peripheral blood	blood
36	chr7:3993000-3993200	Enhancers	H1 Cell Line	embryonic stem cell
37	chr7:3993000-3993200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
38	chr7:3993200-3996400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr7:3994200-3994600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr7:3994400-3994600	Weak transcription	Fetal Muscle Leg	muscle
41	chr7:3994600-3995400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr7:3994600-3995400	Strong transcription	Aorta	Aorta
43	chr7:3994600-3995400	Strong transcription	Fetal Intestine Small	intestine
44	chr7:3994600-3995600	Enhancers	Lung	lung
45	chr7:3994600-3995600	Strong transcription	Pancreas	Pancrea
46	chr7:3994600-3995800	Enhancers	Fetal Thymus	thymus
47	chr7:3994600-3996000	Enhancers	Fetal Muscle Trunk	muscle
48	chr7:3994600-3997000	Enhancers	Fetal Muscle Leg	muscle
49	chr7:3994600-3997400	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr7:3994800-3995200	Enhancers	Brain Germinal Matrix	brain

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