Variant report

Variant	esv3868
Chromosome Location	chr7:70420929-70438668
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	chr7:70419574..70421906-chr7:70424022..70425559,2	K562	blood:
2	chr7:70419574..70421906-chr7:70424022..70425559,2	K562	blood:

Extended variants
information (count: 155 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:155 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546309379	chr7:70420949-70420950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370513988	chr7:70420970-70420971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182360299	chr7:70420988-70420989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113129996	chr7:70421007-70421008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554476033	chr7:70421030-70421031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186598634	chr7:70421072-70421073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190639293	chr7:70421086-70421087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183343989	chr7:70421104-70421105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557182800	chr7:70421109-70421110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs28520299	chr7:70421136-70421137	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs7789195	chr7:70421155-70421156	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs200356161	chr7:70421161-70421162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs62460383	chr7:70421162-70421163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs28669216	chr7:70421163-70421164	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs372206028	chr7:70421251-70421252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555492625	chr7:70421262-70421263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573937721	chr7:70421270-70421271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544578323	chr7:70421408-70421409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147674131	chr7:70421464-70421465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73704975	chr7:70421498-70421499	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs545650244	chr7:70421499-70421500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374509042	chr7:70421506-70421507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs28434662	chr7:70421545-70421546	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs374079686	chr7:70421601-70421602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528218343	chr7:70421613-70421614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114194204	chr7:70421644-70421645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561541589	chr7:70421651-70421652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4566930	chr7:70421654-70421655	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs550305940	chr7:70421677-70421678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62460384	chr7:70421728-70421729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112773613	chr7:70421767-70421768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs4262228	chr7:70421768-70421769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs62460385	chr7:70421770-70421771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs62460386	chr7:70421772-70421773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs62460387	chr7:70421774-70421775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62460388	chr7:70421776-70421777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs58660325	chr7:70421778-70421779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs58733131	chr7:70421780-70421781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs57992947	chr7:70421782-70421783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529289347	chr7:70421785-70421786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs59917547	chr7:70421787-70421788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112853324	chr7:70421791-70421792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559360864	chr7:70421807-70421808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528794476	chr7:70421848-70421849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551182764	chr7:70421876-70421877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142352394	chr7:70421916-70421917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374043883	chr7:70421923-70421924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534040679	chr7:70422005-70422006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548819935	chr7:70422009-70422010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555781904	chr7:70422055-70422056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Dyslexia	22102821	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70419800-70421000	Weak transcription	Fetal Muscle Leg	muscle
2	chr7:70421000-70421600	Enhancers	Fetal Muscle Leg	muscle
3	chr7:70421600-70423000	Weak transcription	Fetal Muscle Leg	muscle
4	chr7:70423000-70423200	Enhancers	Fetal Muscle Leg	muscle
5	chr7:70434800-70435400	Enhancers	Spleen	Spleen
6	chr7:70435000-70435600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr7:70438200-70438800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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