Variant report

Variant	nsv1031276
Chromosome Location	chr7:4396732-4437493
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:4419960..4422829-chr7:4435237..4437889,2	MCF-7	breast:
2	chr7:4401235..4402088-chr7:4518606..4519411,2	MCF-7	breast:
3	chr7:4398858..4401827-chr7:4402346..4405270,2	MCF-7	breast:
4	chr7:4398858..4401827-chr7:4402346..4405270,2	MCF-7	breast:
5	chr7:4419960..4422829-chr7:4435237..4437889,2	MCF-7	breast:

Extended variants
information (count: 485 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:485 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17134723	chr7:4397607-4397608	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539109444	chr7:4397610-4397611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558815168	chr7:4397643-4397644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138720983	chr7:4397650-4397651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558899671	chr7:4397661-4397662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148835120	chr7:4397668-4397669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs76651821	chr7:4397678-4397679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs4720252	chr7:4397694-4397695	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs563196918	chr7:4397703-4397704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143446928	chr7:4397710-4397711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368642359	chr7:4397772-4397773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11980884	chr7:4397784-4397785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11973961	chr7:4397785-4397786	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs147973275	chr7:4397798-4397799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11973962	chr7:4397799-4397800	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs547920717	chr7:4397806-4397807	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs11973979	chr7:4397843-4397844	Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs188509880	chr7:4397853-4397854	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550519170	chr7:4397857-4397858	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570243201	chr7:4397918-4397919	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs11973995	chr7:4397928-4397929	Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs117386030	chr7:4397935-4397936	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567476575	chr7:4397944-4397945	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs11980932	chr7:4397959-4397960	Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs535122252	chr7:4397970-4397971	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs141795339	chr7:4397982-4397983	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531606311	chr7:4397991-4397992	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs146025760	chr7:4398003-4398004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs4720253	chr7:4398027-4398028	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
30	rs556864235	chr7:4398031-4398032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs576612869	chr7:4398084-4398085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545719047	chr7:4398137-4398138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559393700	chr7:4398140-4398141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs572800984	chr7:4398151-4398152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs138698597	chr7:4398176-4398177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs561632147	chr7:4398177-4398178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530552212	chr7:4398190-4398191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs141739283	chr7:4398200-4398201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs35690655	chr7:4403004-4403005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs139382679	chr7:4403057-4403058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs112096931	chr7:4403062-4403063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs367664319	chr7:4403110-4403111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181303582	chr7:4403165-4403166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs546946091	chr7:4403170-4403171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566656433	chr7:4403210-4403211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs116775718	chr7:4403232-4403233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs549099008	chr7:4403245-4403246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537773115	chr7:4403261-4403262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs73311911	chr7:4403287-4403288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184802350	chr7:4403369-4403370	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
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Glioblastoma multiforme	21525872	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4397600-4398000	Enhancers	Fetal Muscle Trunk	muscle
2	chr7:4397600-4398200	Enhancers	Fetal Muscle Leg	muscle
3	chr7:4397800-4398000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:4403000-4403600	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr7:4403600-4404400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:4404400-4406600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:4406600-4407200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:4408000-4410200	Weak transcription	Aorta	Aorta
9	chr7:4410200-4410800	ZNF genes & repeats	Aorta	Aorta
10	chr7:4410400-4410800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:4425800-4426200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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