Variant report

Variant	esv2762640
Chromosome Location	chr7:3838745-3856544
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	chr7:3848437..3851053-chr7:3868632..3870528,2	MCF-7	breast:

Extended variants
information (count: 1012 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1012 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114664603	chr7:3838745-3838746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs180679092	chr7:3838749-3838750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370649789	chr7:3838769-3838770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556735555	chr7:3838797-3838798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570353147	chr7:3838799-3838800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs13233844	chr7:3838802-3838803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577379049	chr7:3838809-3838810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185117120	chr7:3838830-3838831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190856042	chr7:3838836-3838837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10248275	chr7:3838844-3838845	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs183448122	chr7:3838860-3838861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555433177	chr7:3838891-3838892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575387812	chr7:3838905-3838906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187299031	chr7:3838924-3838925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113339512	chr7:3838937-3838938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529724558	chr7:3838939-3838940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532552443	chr7:3838945-3838946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576177286	chr7:3838983-3838984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370698461	chr7:3838992-3838993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192027418	chr7:3839014-3839015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116923194	chr7:3839025-3839026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7787471	chr7:3839029-3839030	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs548156888	chr7:3839045-3839046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139602808	chr7:3839075-3839076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530901462	chr7:3839076-3839077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530161722	chr7:3839089-3839090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548174225	chr7:3839099-3839100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149720870	chr7:3839101-3839102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527415126	chr7:3839102-3839103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539228329	chr7:3839163-3839164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527947047	chr7:3839164-3839165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368593029	chr7:3839173-3839174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113050681	chr7:3839191-3839192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553145296	chr7:3839230-3839231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566635176	chr7:3839253-3839254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535767209	chr7:3839254-3839255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555396375	chr7:3839261-3839262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147824043	chr7:3839262-3839263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544232611	chr7:3839266-3839267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570997609	chr7:3839291-3839292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs56863187	chr7:3839293-3839294	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs528333191	chr7:3839306-3839307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370981617	chr7:3839307-3839308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546066614	chr7:3839316-3839317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374729120	chr7:3839318-3839319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35115199	chr7:3839336-3839337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34448201	chr7:3839337-3839338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75086132	chr7:3839338-3839339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112163254	chr7:3839341-3839342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559924731	chr7:3839360-3839361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3827000-3857200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:3828000-3841200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:3830800-3859800	Weak transcription	Pancreas	Pancrea
4	chr7:3833600-3847600	Weak transcription	Aorta	Aorta
5	chr7:3840200-3841600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:3840400-3841400	Enhancers	Stomach Mucosa	stomach
7	chr7:3840600-3841400	Enhancers	Adipose Nuclei	Adipose
8	chr7:3841200-3841400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:3841400-3847600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:3843600-3848800	Weak transcription	Fetal Stomach	stomach
11	chr7:3844000-3845600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr7:3844600-3845200	Enhancers	HUVEC	blood vessel
13	chr7:3845000-3846000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr7:3845800-3846000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:3846000-3848800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr7:3846800-3848200	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr7:3847000-3848000	Enhancers	Fetal Muscle Trunk	muscle
18	chr7:3847000-3848000	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr7:3847200-3847800	Enhancers	Spleen	Spleen
20	chr7:3847200-3848000	Enhancers	Right Ventricle	heart
21	chr7:3847200-3848200	Enhancers	Fetal Muscle Leg	muscle
22	chr7:3847600-3848000	Strong transcription	Aorta	Aorta
23	chr7:3847600-3848000	Enhancers	Fetal Brain Male	brain
24	chr7:3847600-3848400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr7:3847800-3848000	Enhancers	Right Atrium	heart
26	chr7:3848000-3849000	Weak transcription	Aorta	Aorta
27	chr7:3848000-3849200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr7:3848000-3849400	Weak transcription	Right Atrium	heart
29	chr7:3848400-3882000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr7:3848800-3849600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr7:3848800-3850200	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr7:3848800-3851000	Enhancers	Fetal Stomach	stomach
33	chr7:3849000-3849400	Strong transcription	Aorta	Aorta
34	chr7:3849000-3849800	Enhancers	H1 Cell Line	embryonic stem cell
35	chr7:3849000-3849800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr7:3849400-3849600	Enhancers	Fetal Muscle Trunk	muscle
37	chr7:3849400-3880600	Weak transcription	Aorta	Aorta
38	chr7:3849600-3850000	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr7:3849600-3850200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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