Variant report

Variant	esv3360269
Chromosome Location	chr7:16004277-16006875
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	chr12:109746016..109746516-chr7:16005816..16006317,2	Hela-S3	cervix:

Extended variants
information (count: 131 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541493713	chr7:16004306-16004307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs10264798	chr7:16004318-16004319	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs530255590	chr7:16004340-16004341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548264748	chr7:16004345-16004346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563720527	chr7:16004360-16004361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184949951	chr7:16004365-16004366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190214359	chr7:16004368-16004369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140602455	chr7:16004385-16004386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559880454	chr7:16004412-16004413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144668793	chr7:16004416-16004417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1528138	chr7:16004425-16004426	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs545577996	chr7:16004432-16004433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562523328	chr7:16004437-16004438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536376213	chr7:16004459-16004460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141921021	chr7:16004463-16004464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375685018	chr7:16004464-16004465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554240749	chr7:16004501-16004502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192827265	chr7:16004545-16004546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376319678	chr7:16004681-16004682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576004695	chr7:16004683-16004684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536907766	chr7:16004701-16004702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2530785	chr7:16004816-16004817	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs577259381	chr7:16004840-16004841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs33938816	chr7:16004846-16004847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541220845	chr7:16004912-16004913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562289936	chr7:16004937-16004938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574808894	chr7:16004989-16004990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542322780	chr7:16005012-16005013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368406145	chr7:16005034-16005035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147864330	chr7:16005070-16005071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530936647	chr7:16005086-16005087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536402842	chr7:16005131-16005132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552198535	chr7:16005146-16005147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564429566	chr7:16005211-16005212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551694986	chr7:16005229-16005230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373000655	chr7:16005231-16005232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10242035	chr7:16005245-16005246	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs141656713	chr7:16005292-16005293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185306407	chr7:16005297-16005298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527967188	chr7:16005311-16005312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548276818	chr7:16005347-16005348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374119990	chr7:16005348-16005349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189362043	chr7:16005352-16005353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181972604	chr7:16005357-16005358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558628303	chr7:16005363-16005364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577195598	chr7:16005371-16005372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185255530	chr7:16005373-16005374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556028066	chr7:16005390-16005391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574581704	chr7:16005400-16005401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188395353	chr7:16005429-16005430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Melanoma	18172304	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Bladder cancer	21909424	CNVD
Cancer	21183584	CNVD
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15992400-16010800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:16003400-16012400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:16005800-16008200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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