Variant report

Variant	nsv1023893
Chromosome Location	chr7:4069711-4084716
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:4046706..4048261-chr7:4069648..4071782,2	MCF-7	breast:
2	chr7:4074370..4074950-chr7:4518765..4519624,3	MCF-7	breast:
3	chr7:4082285..4084220-chr7:4087738..4090486,2	K562	blood:
4	chr7:4067708..4070701-chr7:4072380..4075049,2	MCF-7	breast:
5	chr7:4067708..4070701-chr7:4072380..4075049,2	MCF-7	breast:

Extended variants
information (count: 844 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:844 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189223172	chr7:4069713-4069714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544667306	chr7:4069729-4069730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs78169095	chr7:4069730-4069731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs62439613	chr7:4069732-4069733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533138544	chr7:4069748-4069749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546622482	chr7:4069792-4069793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560381572	chr7:4069798-4069799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12386617	chr7:4069819-4069820	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs548592409	chr7:4069830-4069831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552759024	chr7:4069841-4069842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538838455	chr7:4069846-4069847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568470950	chr7:4069871-4069872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537558503	chr7:4069874-4069875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs17134196	chr7:4069876-4069877	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs571005095	chr7:4069880-4069881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540003241	chr7:4069887-4069888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs17134197	chr7:4069893-4069894	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs71527466	chr7:4069897-4069898	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs535745647	chr7:4069908-4069909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191570232	chr7:4069926-4069927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575665683	chr7:4069928-4069929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs78981731	chr7:4069933-4069934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183476578	chr7:4069940-4069941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs147850202	chr7:4069952-4069953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543474400	chr7:4069975-4069976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139163015	chr7:4069977-4069978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs149927242	chr7:4069989-4069990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12701351	chr7:4069995-4069996	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs115676970	chr7:4070001-4070002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs368299180	chr7:4070032-4070033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372321401	chr7:4070035-4070036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562184999	chr7:4070047-4070048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531205222	chr7:4070055-4070056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551090537	chr7:4070056-4070057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571306970	chr7:4070076-4070077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs116185479	chr7:4070083-4070084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2342489	chr7:4070095-4070096	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs543242402	chr7:4070111-4070112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566905210	chr7:4070141-4070142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536166005	chr7:4070153-4070154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs35634415	chr7:4070159-4070160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs10250009	chr7:4070162-4070163	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs79936549	chr7:4070168-4070169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538219842	chr7:4070169-4070170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs187542284	chr7:4070173-4070174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs578065774	chr7:4070174-4070175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540323028	chr7:4070211-4070212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78234563	chr7:4070233-4070234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191661013	chr7:4070244-4070245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542563233	chr7:4070255-4070256	Weak transcription	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:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4059000-4091200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:4061400-4073200	Weak transcription	Fetal Lung	lung
3	chr7:4061400-4080800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:4065600-4077000	Weak transcription	Aorta	Aorta
5	chr7:4066000-4069800	Weak transcription	Colon Smooth Muscle	Colon
6	chr7:4066800-4082000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:4066800-4087200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:4066800-4091200	Weak transcription	Pancreas	Pancrea
9	chr7:4069600-4070200	Enhancers	Fetal Stomach	stomach
10	chr7:4069800-4070200	Enhancers	Colon Smooth Muscle	Colon
11	chr7:4072000-4072200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr7:4072200-4073200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr7:4073000-4073400	Enhancers	Primary T cells from cord blood	blood
14	chr7:4073200-4073800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr7:4073200-4073800	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr7:4073200-4074000	Enhancers	H1 Cell Line	embryonic stem cell
17	chr7:4073200-4074000	Enhancers	H9 Cell Line	embryonic stem cell
18	chr7:4073200-4074000	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr7:4073200-4074000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr7:4073200-4074000	Enhancers	Fetal Lung	lung
21	chr7:4073200-4074200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr7:4073200-4074400	Enhancers	Fetal Brain Male	brain
23	chr7:4073400-4074000	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr7:4073800-4079200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr7:4074000-4078400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr7:4074000-4078400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr7:4074000-4079200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr7:4074000-4079600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr7:4074200-4079200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr7:4077000-4078000	Strong transcription	Aorta	Aorta
31	chr7:4077600-4077800	Enhancers	Spleen	Spleen
32	chr7:4077800-4078000	Enhancers	Fetal Muscle Leg	muscle
33	chr7:4077800-4087800	Weak transcription	Spleen	Spleen
34	chr7:4078000-4091200	Weak transcription	Aorta	Aorta
35	chr7:4078400-4078600	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr7:4078400-4078600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:4078400-4078800	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr7:4078400-4078800	Enhancers	H1 Cell Line	embryonic stem cell
39	chr7:4078400-4081200	Weak transcription	Fetal Muscle Leg	muscle
40	chr7:4078600-4079000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr7:4078600-4079600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:4078800-4079000	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr7:4078800-4079200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr7:4079000-4079600	Enhancers	H1 Cell Line	embryonic stem cell
45	chr7:4079000-4080000	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr7:4079200-4079800	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr7:4079200-4080000	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr7:4079200-4080200	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr7:4079200-4080200	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr7:4079400-4079600	Active TSS	iPS-20b Cell Line	embryonic stem cell

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