Variant report

Variant	esv3529016
Chromosome Location	chr7:97654966-97658564
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	chr7:97656294..97658783-chr7:97701191..97703989,2	K562	blood:
2	chr2:154695219..154695874-chr7:97656418..97657125,2	MCF-7	breast:

Extended variants
information (count: 214 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:214 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550894798	chr7:97654982-97654983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11772494	chr7:97655005-97655006	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs368528990	chr7:97655040-97655041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370571287	chr7:97655047-97655048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150803178	chr7:97655076-97655077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551821691	chr7:97655079-97655080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566839393	chr7:97655110-97655111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534346904	chr7:97655111-97655112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555680897	chr7:97655112-97655113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187789918	chr7:97655123-97655124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538109642	chr7:97655129-97655130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs207468323	chr7:97655226-97655227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139173847	chr7:97655228-97655229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574866192	chr7:97655279-97655280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545459998	chr7:97655295-97655296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557768297	chr7:97655319-97655320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572841804	chr7:97655329-97655330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs58321781	chr7:97655339-97655340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200831855	chr7:97655345-97655346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75610432	chr7:97655351-97655352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113067773	chr7:97655364-97655365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375645213	chr7:97655382-97655383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549448886	chr7:97655387-97655388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530861570	chr7:97655408-97655409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192415146	chr7:97655415-97655416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184041737	chr7:97655423-97655424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114622767	chr7:97655457-97655458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188725047	chr7:97655463-97655464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149985807	chr7:97655524-97655525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181448487	chr7:97655525-97655526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145216442	chr7:97655553-97655554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113013755	chr7:97655588-97655589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567487299	chr7:97655684-97655685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572512338	chr7:97655695-97655696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141214367	chr7:97655701-97655702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143723209	chr7:97655721-97655722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571592661	chr7:97655740-97655741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550347502	chr7:97655742-97655743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184523235	chr7:97655744-97655745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190156588	chr7:97655755-97655756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs60964670	chr7:97655773-97655774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs60079038	chr7:97655774-97655775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs58379371	chr7:97655782-97655783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376257002	chr7:97655786-97655787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199961169	chr7:97655787-97655788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148628352	chr7:97655794-97655795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146806701	chr7:97655827-97655828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs3060457	chr7:97655830-97655831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182326477	chr7:97655887-97655888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187319064	chr7:97655893-97655894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
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
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
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myoclonus-dystonia	17898012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164920	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Chronic myeloid leukemia	21384125	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Cancer	20164919	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97649200-97668000	Weak transcription	Right Atrium	heart

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