Variant report

Variant	esv18170
Chromosome Location	chr7:71578779-71579668
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs207468075	chr7:71578805-71578806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535787412	chr7:71578896-71578897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150181780	chr7:71578920-71578921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113205274	chr7:71578959-71578960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575430216	chr7:71578970-71578971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573897310	chr7:71578975-71578976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539126878	chr7:71578978-71578979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73124394	chr7:71578996-71578997	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs181696802	chr7:71579007-71579008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138723315	chr7:71579041-71579042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561705427	chr7:71579137-71579138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574231476	chr7:71579143-71579144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544926321	chr7:71579171-71579172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562909378	chr7:71579198-71579199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533595542	chr7:71579205-71579206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574180097	chr7:71579227-71579228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145869836	chr7:71579228-71579229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201382272	chr7:71579229-71579230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377428496	chr7:71579245-71579246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs67566412	chr7:71579264-71579265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374019316	chr7:71579275-71579276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376874323	chr7:71579280-71579281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534134012	chr7:71579284-71579285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201426191	chr7:71579285-71579286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149362840	chr7:71579289-71579290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560223162	chr7:71579291-71579292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35798924	chr7:71579294-71579295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185651843	chr7:71579314-71579315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150398608	chr7:71579326-71579327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567349565	chr7:71579423-71579424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111569108	chr7:71579430-71579431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550866866	chr7:71579442-71579443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs117636785	chr7:71579516-71579517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562328122	chr7:71579517-71579518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371300671	chr7:71579548-71579549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62462815	chr7:71579551-71579552	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs545124504	chr7:71579591-71579592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs118080476	chr7:71579600-71579601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73124396	chr7:71579606-71579607	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs142928557	chr7:71579607-71579608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573600309	chr7:71579616-71579617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190313307	chr7:71579622-71579623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35509687	chr7:71579636-71579637	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs547280223	chr7:71579660-71579661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16461572	CNVD
Acute monocytic leukemia	16498392	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18765545	CNVD
Chordoma	18071362	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71574200-71584200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr7:71574600-71583800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:71574800-71583400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:71575000-71587000	Weak transcription	Thymus	Thymus
5	chr7:71576400-71580800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:71577800-71579000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr7:71577800-71583400	Weak transcription	Fetal Thymus	thymus
8	chr7:71578000-71579400	Enhancers	H9 Cell Line	embryonic stem cell
9	chr7:71578200-71578800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr7:71578200-71579600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr7:71578400-71581400	Weak transcription	Pancreas	Pancrea
12	chr7:71578800-71579000	Enhancers	H1 Cell Line	embryonic stem cell

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