Variant report

Variant	nsv606991
Chromosome Location	chr7:52727932-52743776
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:52731842..52733359-chr7:52737655..52740538,2	K562	blood:
2	chr7:52731842..52733359-chr7:52737655..52740538,2	K562	blood:
3	chr7:52737899..52740612-chr7:52858585..52861184,2	K562	blood:

Extended variants
information (count: 399 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:399 , 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	rs139959748	chr7:52731827-52731828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552926480	chr7:52731936-52731937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572901072	chr7:52731982-52731983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145475386	chr7:52731994-52731995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147711669	chr7:52731996-52731997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561670500	chr7:52732008-52732009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530337697	chr7:52732017-52732018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532616256	chr7:52732028-52732029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528851217	chr7:52732035-52732036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs114721778	chr7:52732078-52732079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563333116	chr7:52732124-52732125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375639104	chr7:52732125-52732126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs142550244	chr7:52732127-52732128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552334792	chr7:52732135-52732136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115379638	chr7:52732148-52732149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145850706	chr7:52732179-52732180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs200051562	chr7:52732189-52732190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs386713279	chr7:52732197-52732198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs1631583	chr7:52732207-52732208	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs548291379	chr7:52732213-52732214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568188856	chr7:52732244-52732245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536874978	chr7:52732249-52732250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556723322	chr7:52732288-52732289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570697160	chr7:52732296-52732297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs115328586	chr7:52732319-52732320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552947922	chr7:52732354-52732355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572808555	chr7:52732362-52732363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs376703913	chr7:52732363-52732364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs77722437	chr7:52732368-52732369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs77647892	chr7:52732374-52732375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189597529	chr7:52732398-52732399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546351297	chr7:52732429-52732430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552730336	chr7:52732434-52732435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs143372954	chr7:52732456-52732457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11971941	chr7:52732505-52732506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563868064	chr7:52732506-52732507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs1661619	chr7:52732550-52732551	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs141378758	chr7:52735646-52735647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534003563	chr7:52735726-52735727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554317725	chr7:52735748-52735749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532437860	chr7:52735781-52735782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs56211982	chr7:52735789-52735790	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs73120138	chr7:52735806-52735807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556634311	chr7:52735811-52735812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189838869	chr7:52735870-52735871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs78211893	chr7:52735902-52735903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562716876	chr7:52735911-52735912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564900122	chr7:52735915-52735916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572217384	chr7:52735918-52735919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528147166	chr7:52735978-52735979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:119)

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

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:52731800-52732600	Enhancers	HUVEC	blood vessel
2	chr7:52735600-52736400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:52736400-52736600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:52736600-52737000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:52737000-52737200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:52737600-52739000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:52738000-52739000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:52738200-52738600	Enhancers	H9 Cell Line	embryonic stem cell
9	chr7:52738200-52739000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:52738200-52739000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr7:52738200-52739200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr7:52738200-52739200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr7:52738400-52739000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr7:52738400-52739000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr7:52738600-52739200	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr7:52739600-52739800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:52739800-52746200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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