Variant report

Variant	esv3422420
Chromosome Location	chr7:52928792-52953031
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	chr7:52948539..52950492-chr7:52953157..52954765,2	K562	blood:

Extended variants
information (count: 354 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:354 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34228327	chr7:52930420-52930421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535987353	chr7:52930455-52930456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs117743105	chr7:52930486-52930487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555727961	chr7:52930506-52930507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371720564	chr7:52930533-52930534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs80001306	chr7:52930548-52930549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188301728	chr7:52930560-52930561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs142808473	chr7:52930629-52930630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544846083	chr7:52930665-52930666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563038891	chr7:52930671-52930672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77106104	chr7:52930678-52930679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551545835	chr7:52930683-52930684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540779822	chr7:52930778-52930779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560672296	chr7:52930788-52930789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112201553	chr7:52930803-52930804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113303892	chr7:52930860-52930861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562855611	chr7:52930864-52930865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs193178270	chr7:52930867-52930868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2195139	chr7:52930883-52930884	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs562124178	chr7:52930894-52930895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112692208	chr7:52930904-52930905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369177132	chr7:52930919-52930920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547184099	chr7:52930968-52930969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567162770	chr7:52930973-52930974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112754351	chr7:52931015-52931016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112995001	chr7:52931019-52931020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576077919	chr7:52931038-52931039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111886202	chr7:52931080-52931081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558277447	chr7:52931100-52931101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs578161236	chr7:52931116-52931117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567603559	chr7:52931146-52931147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2913009	chr7:52931172-52931173	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs189096378	chr7:52931191-52931192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200640685	chr7:52931218-52931219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75350842	chr7:52931223-52931224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562945267	chr7:52931226-52931227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577062125	chr7:52931258-52931259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200403100	chr7:52931263-52931264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141438965	chr7:52931265-52931266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112225991	chr7:52931266-52931267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138956469	chr7:52931317-52931318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183770104	chr7:52931352-52931353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112607163	chr7:52931381-52931382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145657014	chr7:52931415-52931416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73111856	chr7:52931461-52931462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35923337	chr7:52931484-52931485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529808392	chr7:52931488-52931489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147755608	chr7:52931490-52931491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs725867	chr7:52931493-52931494	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs538357694	chr7:52931497-52931498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:122)

Disease	PMID	Source
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Biliary cancer	19435499	CNVD
Wilms tumour	21544195	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	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
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
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	22495311	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastric cancer	24379144	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal cancer	21851588	CNVD
Non-small cell lung cancer	17643093	CNVD
Ovarian cancer	18182111	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17369134	CNVD
Barrett''s esophagus	18559552	CNVD
head and neck squamous cell carcinoma	16943533	CNVD
Anaplastic thyroid cancer	17079354	CNVD
Basal-like breast cancer	17875215	CNVD
Colorectal cancer	16882699	CNVD
Colorectal cancer	18794099	CNVD
Gastrointestinal stromal cancer	17643098	CNVD
Lung cancer	18381415	CNVD
Metastatic colorectal cancer	17664472	CNVD
Non-small cell lung cancer	19255323	CNVD
Non-small cell lung cancer	17673923	CNVD
Non-small cell lung cancer	17975165	CNVD
Non-small cell lung cancer	19622585	CNVD
Ovarian cancer	16607561	CNVD
Squamous cell cancer	19670535	CNVD
head and neck squamous cell carcinoma	16818711	CNVD
small cell lung cancer	18829487	CNVD
Breast cancer	17661082	CNVD
Adenocarcinoma	19260752	CNVD
Esophageal cancer	16575012	CNVD
Lung adenocarcinoma	19138956	CNVD
Lung adenocarcinoma	18379350	CNVD
Lung adenocarcinoma	18258923	CNVD
Lung cancer	19138956	CNVD
Lung cancer	18379350	CNVD
Lung cancer	18258923	CNVD
Non-small cell lung cancer	18304967	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	19260752	CNVD
Non-small cell lung cancer	17079354	CNVD
Non-small cell lung cancer	18559607	CNVD
Rectal cancer	19506820	CNVD
Triple-negative breast cancer	18950515	CNVD
head and neck squamous cell carcinoma	18813952	CNVD
Non-small cell lung cancer	17504988	CNVD
Non-small cell lung cancer	16943533	CNVD
Non-small cell lung cancer	18509184	CNVD
head and neck squamous cell carcinoma	17538160	CNVD
Colorectal cancer	19712476	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19671679	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
small cell lung cancer	20016488	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21990379	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:52930400-52930600	Enhancers	Aorta	Aorta
2	chr7:52930600-52932200	Weak transcription	Aorta	Aorta
3	chr7:52932200-52933400	ZNF genes & repeats	Aorta	Aorta
4	chr7:52932400-52933200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:52932800-52933000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:52933400-52934400	Weak transcription	Aorta	Aorta
7	chr7:52934400-52935000	Active TSS	Aorta	Aorta
8	chr7:52950400-52950600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr7:52950600-52951000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:52950600-52952600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr7:52952600-52954000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr7:52952600-52954000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr7:52952800-52953600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr7:52952800-52953600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr7:52952800-52953800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr7:52953000-52953800	Enhancers	H9 Cell Line	embryonic stem cell

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