Variant report

Variant	esv3418930
Chromosome Location	chr7:64428017-64430115
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	chr7:64429207..64430729-chr7:64465545..64467269,2	MCF-7	breast:
2	chr7:64430037..64431649-chr7:64452828..64455445,2	K562	blood:

Variant related genes	Relation type
ENSG00000213462	chromatin interactions
ENSG00000152926	chromatin interactions

Extended variants
information (count: 94 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71061340	chr7:64428043-64428044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187373636	chr7:64428051-64428052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554000089	chr7:64428162-64428163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569021084	chr7:64428180-64428181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374606150	chr7:64428195-64428196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112683533	chr7:64428220-64428221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368005413	chr7:64428256-64428257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371707358	chr7:64428338-64428339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111751619	chr7:64428375-64428376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531648799	chr7:64428387-64428388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191745750	chr7:64428467-64428468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369647958	chr7:64428511-64428512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182737938	chr7:64428542-64428543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375860272	chr7:64428564-64428565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185487220	chr7:64428591-64428592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371793804	chr7:64428622-64428623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372568636	chr7:64428649-64428650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534544553	chr7:64428650-64428651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111945345	chr7:64428658-64428659	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
20	rs537653941	chr7:64428672-64428673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555432511	chr7:64428771-64428772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369188447	chr7:64428776-64428777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9770557	chr7:64428841-64428842	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs77029304	chr7:64428854-64428855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564496659	chr7:64428858-64428859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs62455638	chr7:64428897-64428898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555955650	chr7:64428901-64428902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs151156128	chr7:64428923-64428924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377001404	chr7:64428946-64428947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371598381	chr7:64428982-64428983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564015243	chr7:64428988-64428989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373629006	chr7:64429013-64429014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529294171	chr7:64429040-64429041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549430857	chr7:64429045-64429046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559775353	chr7:64429048-64429049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528550016	chr7:64429053-64429054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs367834766	chr7:64429081-64429082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370414914	chr7:64429097-64429098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182256756	chr7:64429125-64429126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551868987	chr7:64429153-64429154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374038041	chr7:64429159-64429160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368195065	chr7:64429178-64429179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549662992	chr7:64429183-64429184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187715008	chr7:64429184-64429185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535069424	chr7:64429203-64429204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555098806	chr7:64429204-64429205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565695133	chr7:64429211-64429212	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs4354209	chr7:64429221-64429222	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs557846131	chr7:64429229-64429230	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs578212979	chr7:64429230-64429231	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

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	17122850	CNVD
small cell lung cancer	17426248	CNVD
Williams Syndrome	20824207	CNVD
Cognitive impairment	21505072	CNVD
Schizophrenia	20967226	CNVD
Cancer	21272361	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64427200-64429600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr7:64429600-64430800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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