Variant report

Variant	nsv538842
Chromosome Location	chr7:52767403-52800721
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:52787484..52789505-chr7:52793335..52795035,2	MCF-7	breast:
2	chr7:52787484..52789505-chr7:52793335..52795035,2	MCF-7	breast:
3	chr7:52785933..52787584-chr7:52789855..52792602,2	MCF-7	breast:
4	chr7:52785933..52787584-chr7:52789855..52792602,2	MCF-7	breast:

Extended variants
information (count: 1520 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:1520 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10230960	chr7:52767413-52767414	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571866788	chr7:52767454-52767455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs72044758	chr7:52767460-52767461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200395642	chr7:52767470-52767471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534366152	chr7:52767500-52767501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535645692	chr7:52767502-52767503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551139769	chr7:52767541-52767542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567702597	chr7:52767598-52767599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1649739	chr7:52767640-52767641	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs1649738	chr7:52767699-52767700	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs1649737	chr7:52767755-52767756	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs6954483	chr7:52767764-52767765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1729835	chr7:52767765-52767766	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs570871712	chr7:52767791-52767792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538363700	chr7:52767797-52767798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558404208	chr7:52767843-52767844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572267018	chr7:52767871-52767872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541180492	chr7:52767923-52767924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs193276588	chr7:52767993-52767994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1629716	chr7:52768005-52768006	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs543536539	chr7:52768075-52768076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563408972	chr7:52768085-52768086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140026700	chr7:52768107-52768108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552215680	chr7:52768114-52768115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376430135	chr7:52768126-52768127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527978028	chr7:52768133-52768134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548115339	chr7:52768137-52768138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567749109	chr7:52768140-52768141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185474359	chr7:52768205-52768206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368553919	chr7:52768225-52768226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1627344	chr7:52768233-52768234	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs377150894	chr7:52768238-52768239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1627324	chr7:52768242-52768243	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs17135257	chr7:52768266-52768267	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs145370001	chr7:52768267-52768268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112727978	chr7:52768353-52768354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376056889	chr7:52768396-52768397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189081311	chr7:52768399-52768400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142468817	chr7:52768432-52768433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538493068	chr7:52768435-52768436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554891848	chr7:52768452-52768453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1625454	chr7:52768476-52768477	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs543672300	chr7:52768491-52768492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557056866	chr7:52768496-52768497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76697265	chr7:52768502-52768503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1625358	chr7:52768518-52768519	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs77867660	chr7:52768556-52768557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528128401	chr7:52768587-52768588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs137950231	chr7:52768605-52768606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146774947	chr7:52768606-52768607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:121)

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	21293372	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:52758400-52777200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:52764400-52769200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr7:52769200-52769400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr7:52769400-52770400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr7:52770400-52771000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr7:52777200-52777400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:52777200-52777400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:52777400-52778000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:52777400-52778200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:52779400-52783600	Weak transcription	Pancreas	Pancrea
11	chr7:52779800-52780200	Enhancers	Dnd41	blood
12	chr7:52781800-52782000	ZNF genes & repeats	Rectal Smooth Muscle	rectum
13	chr7:52781800-52782200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:52782000-52782800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr7:52782600-52783600	Enhancers	Fetal Stomach	stomach
16	chr7:52782800-52783400	Enhancers	Rectal Smooth Muscle	rectum
17	chr7:52783600-52783800	Enhancers	Pancreas	Pancrea
18	chr7:52783800-52787400	Weak transcription	Pancreas	Pancrea
19	chr7:52785400-52785600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:52785600-52804400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:52785800-52786000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:52786200-52787400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:52787200-52788000	Enhancers	HUVEC	blood vessel
24	chr7:52787400-52788000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:52787600-52787800	Enhancers	Pancreas	Pancrea
26	chr7:52794000-52794600	Enhancers	Fetal Stomach	stomach
27	chr7:52794200-52795400	Enhancers	Fetal Heart	heart
28	chr7:52794600-52795000	Weak transcription	Fetal Stomach	stomach
29	chr7:52795000-52795400	Enhancers	Fetal Stomach	stomach
30	chr7:52795000-52795800	Enhancers	HUVEC	blood vessel
31	chr7:52795400-52798600	Weak transcription	Fetal Heart	heart
32	chr7:52798600-52799200	Enhancers	Fetal Heart	heart

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