Variant report

Variant	esv3370670
Chromosome Location	chr7:18770227-18774425
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	chr7:18764685..18767468-chr7:18769074..18771376,2	K562	blood:

Extended variants
information (count: 348 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:348 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140932034	chr7:18770290-18770291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552571120	chr7:18770313-18770314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553592712	chr7:18770349-18770350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570965436	chr7:18770365-18770366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535071292	chr7:18770415-18770416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552520611	chr7:18770418-18770419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199866214	chr7:18770421-18770422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553644068	chr7:18770431-18770432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192585309	chr7:18770503-18770504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374102913	chr7:18770514-18770515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531437917	chr7:18770516-18770517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535800048	chr7:18770637-18770638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557656535	chr7:18770644-18770645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575816270	chr7:18770653-18770654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545407569	chr7:18770688-18770689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557285481	chr7:18770708-18770709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10241000	chr7:18770723-18770724	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs184922863	chr7:18770734-18770735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs367846439	chr7:18770750-18770751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189779113	chr7:18770774-18770775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544046713	chr7:18770809-18770810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs180853747	chr7:18770823-18770824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185203532	chr7:18770840-18770841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552607365	chr7:18770853-18770854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549841277	chr7:18770870-18770871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568109775	chr7:18770871-18770872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570855474	chr7:18770880-18770881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79535756	chr7:18770881-18770882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547050201	chr7:18770882-18770883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189234931	chr7:18770909-18770910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536062590	chr7:18770928-18770929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78598471	chr7:18770933-18770934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181947604	chr7:18770939-18770940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539742796	chr7:18770940-18770941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557373450	chr7:18770941-18770942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs56386980	chr7:18770945-18770946	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs375021305	chr7:18770951-18770952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539966936	chr7:18770966-18770967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555458445	chr7:18771067-18771068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1178132	chr7:18771108-18771109	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs74939700	chr7:18771119-18771120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114141065	chr7:18771131-18771132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs57233148	chr7:18771176-18771177	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs545308615	chr7:18771215-18771216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564501319	chr7:18771255-18771256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372347649	chr7:18771311-18771312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375590159	chr7:18771314-18771315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528517181	chr7:18771315-18771316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542085779	chr7:18771334-18771335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568552023	chr7:18771339-18771340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	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
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Bladder cancer	21909424	CNVD
Cancer	21183584	CNVD
Autism	20808228	CNVD
Sezary syndrome	18413736	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18699600-18776000	Weak transcription	Aorta	Aorta
2	chr7:18726200-18790200	Weak transcription	Primary B cells from cord blood	blood
3	chr7:18748000-18788600	Weak transcription	Left Ventricle	heart
4	chr7:18765200-18810600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:18769200-18771600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:18769600-18788600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:18771800-18772200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:18772200-18772600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:18772200-18772600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:18772200-18772600	Active TSS	Fetal Lung	lung
11	chr7:18772200-18772600	ZNF genes & repeats	Pancreas	Pancrea

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