Variant report

Variant	esv3446423
Chromosome Location	chr7:64094751-64096558
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	chr7:64096183..64096701-chr8:43095392..43095917,3	MCF-7	breast:

Extended variants
information (count: 70 )
Associated
traits (count: 76 )

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	rs145436371	chr7:64094815-64094816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551945846	chr7:64094824-64094825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374231413	chr7:64094827-64094828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188716589	chr7:64094843-64094844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530981047	chr7:64094849-64094850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550722098	chr7:64094867-64094868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7784441	chr7:64094898-64094899	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs10275153	chr7:64094917-64094918	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs553611298	chr7:64094957-64094958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs62462874	chr7:64094987-64094988	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs538836011	chr7:64095007-64095008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551538227	chr7:64095009-64095010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115511806	chr7:64095010-64095011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557051784	chr7:64095011-64095012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs151051392	chr7:64095122-64095123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140997083	chr7:64095147-64095148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539694352	chr7:64095226-64095227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62462875	chr7:64095278-64095279	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs7788677	chr7:64095297-64095298	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs199513078	chr7:64095319-64095320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143003210	chr7:64095321-64095322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74428853	chr7:64095326-64095327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs117146028	chr7:64095351-64095352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149922558	chr7:64095378-64095379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575611792	chr7:64095420-64095421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528353994	chr7:64095437-64095438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75504674	chr7:64095465-64095466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73359887	chr7:64095480-64095481	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs4562195	chr7:64095515-64095516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371917122	chr7:64095530-64095531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190520114	chr7:64095536-64095537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567579718	chr7:64095572-64095573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558110789	chr7:64095574-64095575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs578221625	chr7:64095583-64095584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540914941	chr7:64095584-64095585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11520665	chr7:64095624-64095625	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs369799908	chr7:64095663-64095664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs62462876	chr7:64095678-64095679	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs552376375	chr7:64095718-64095719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368000637	chr7:64095740-64095741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62462877	chr7:64095741-64095742	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs35792459	chr7:64095809-64095810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537271531	chr7:64095810-64095811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536784702	chr7:64095823-64095824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs398004962	chr7:64095824-64095825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs74347005	chr7:64095914-64095915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370474182	chr7:64095917-64095918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182694762	chr7:64095922-64095923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187021143	chr7:64095938-64095939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs377245065	chr7:64095959-64095960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
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
Hodgkin''s lymphoma	18641027	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
Glioblastoma	21080181	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
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	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
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64089400-64097200	Weak transcription	Placenta	Placenta
2	chr7:64096200-64096600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

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