Variant report

Variant	esv16307
Chromosome Location	chr7:38625960-38626516
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185338881	chr7:38625961-38625962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562206409	chr7:38625968-38625969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527903939	chr7:38625982-38625983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374282908	chr7:38625989-38625990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547649089	chr7:38626027-38626028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112179513	chr7:38626137-38626138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs28445255	chr7:38626147-38626148	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs532899690	chr7:38626161-38626162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs140128319	chr7:38626163-38626164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376041548	chr7:38626164-38626165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs56787018	chr7:38626175-38626176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376368337	chr7:38626178-38626179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370984694	chr7:38626181-38626182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs373528993	chr7:38626182-38626183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190116496	chr7:38626189-38626190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10269719	chr7:38626205-38626206	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs181193660	chr7:38626219-38626220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs58676774	chr7:38626229-38626230	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs375461132	chr7:38626230-38626231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35172126	chr7:38626254-38626255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534838237	chr7:38626274-38626275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs57620524	chr7:38626293-38626294	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs577894521	chr7:38626294-38626295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566221219	chr7:38626301-38626302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546357973	chr7:38626342-38626343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556689339	chr7:38626349-38626350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551283452	chr7:38626387-38626388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536554114	chr7:38626432-38626433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75078172	chr7:38626491-38626492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs202223236	chr7:38626495-38626496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370542864	chr7:38626498-38626499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562429818	chr7:38626507-38626508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	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
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Sezary syndrome	18413736	CNVD
Gastric cancer	24379144	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38608400-38634800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:38615400-38626800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:38623200-38626200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr7:38623400-38629400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:38623800-38626000	Enhancers	Stomach Smooth Muscle	stomach
6	chr7:38624000-38626000	Enhancers	Aorta	Aorta
7	chr7:38625000-38634600	Weak transcription	Right Atrium	heart
8	chr7:38625400-38641200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:38625600-38626400	Enhancers	Fetal Heart	heart
10	chr7:38625800-38626000	Enhancers	Fetal Stomach	stomach
11	chr7:38626000-38633400	Weak transcription	Aorta	Aorta
12	chr7:38626000-38633600	Weak transcription	Fetal Stomach	stomach
13	chr7:38626200-38640400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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