Variant report

Variant	esv2449267
Chromosome Location	chr7:16935966-16937597
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113696002	chr7:16936034-16936035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs117394468	chr7:16936037-16936038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185296041	chr7:16936043-16936044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113516012	chr7:16936110-16936111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567767746	chr7:16936132-16936133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538492109	chr7:16936133-16936134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556481114	chr7:16936165-16936166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577609986	chr7:16936166-16936167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188782230	chr7:16936206-16936207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564949367	chr7:16936227-16936228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181534714	chr7:16936278-16936279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374318319	chr7:16936279-16936280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372833474	chr7:16936304-16936305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376750119	chr7:16936311-16936312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572465676	chr7:16936320-16936321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs202168088	chr7:16936389-16936390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536715188	chr7:16936448-16936449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371063739	chr7:16936450-16936451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184873062	chr7:16936531-16936532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112463791	chr7:16936626-16936627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189244990	chr7:16936678-16936679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181036988	chr7:16936692-16936693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561872597	chr7:16936695-16936696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148455352	chr7:16936707-16936708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544516161	chr7:16936758-16936759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562801097	chr7:16936777-16936778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142733912	chr7:16936834-16936835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs28876396	chr7:16936843-16936844	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs71254934	chr7:16936850-16936851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13245674	chr7:16936884-16936885	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
31	rs116492761	chr7:16936897-16936898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71248838	chr7:16936927-16936928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370237203	chr7:16936936-16936937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548814624	chr7:16936946-16936947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373730094	chr7:16936957-16936958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561282959	chr7:16936966-16936967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs117480548	chr7:16936979-16936980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78887227	chr7:16937005-16937006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs151012665	chr7:16937015-16937016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556416722	chr7:16937025-16937026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572620301	chr7:16937031-16937032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139597914	chr7:16937061-16937062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538962386	chr7:16937063-16937064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185827989	chr7:16937078-16937079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543317900	chr7:16937091-16937092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554820699	chr7:16937092-16937093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554105011	chr7:16937093-16937094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577104749	chr7:16937108-16937109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572350161	chr7:16937112-16937113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116005916	chr7:16937130-16937131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
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
Autism	20808228	CNVD
Sezary syndrome	18413736	CNVD
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Autism	22495309	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16931800-16939800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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