Variant report

Variant	nsv1025047
Chromosome Location	chr7:11733426-11758159
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	chr7:11751558..11753494-chr7:11758011..11760902,2	K562	blood:
2	chr7:11751558..11753494-chr7:11758011..11760902,2	K562	blood:

Extended variants
information (count: 1020 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:1020 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543718941	chr7:11733427-11733428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533384568	chr7:11733433-11733434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191553881	chr7:11733434-11733435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183204397	chr7:11733441-11733442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369429927	chr7:11733463-11733464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549870920	chr7:11733478-11733479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1358166	chr7:11733482-11733483	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs10499417	chr7:11733513-11733514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187089615	chr7:11733533-11733534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528642248	chr7:11733589-11733590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535980859	chr7:11733641-11733642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551851565	chr7:11733642-11733643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149526460	chr7:11733682-11733683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539616328	chr7:11733685-11733686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs17833670	chr7:11733719-11733720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569886650	chr7:11733724-11733725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535732645	chr7:11733798-11733799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs941034	chr7:11733818-11733819	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs534863239	chr7:11733844-11733845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571663225	chr7:11733967-11733968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534424486	chr7:11733996-11733997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144044492	chr7:11734050-11734051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577834401	chr7:11734057-11734058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191896412	chr7:11734074-11734075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184236763	chr7:11734088-11734089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574291712	chr7:11734102-11734103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369702407	chr7:11734105-11734106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531998459	chr7:11734108-11734109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374556047	chr7:11734122-11734123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559490592	chr7:11734171-11734172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528452883	chr7:11734203-11734204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148246575	chr7:11734213-11734214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141226110	chr7:11734236-11734237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531011820	chr7:11734265-11734266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186680251	chr7:11734277-11734278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192719984	chr7:11734285-11734286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529179008	chr7:11734309-11734310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555922982	chr7:11734322-11734323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147451714	chr7:11734378-11734379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150741183	chr7:11734383-11734384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552117256	chr7:11734431-11734432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541571930	chr7:11734471-11734472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534288414	chr7:11734498-11734499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185518235	chr7:11734517-11734518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376201505	chr7:11734523-11734524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139124399	chr7:11734606-11734607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143999905	chr7:11734612-11734613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4721003	chr7:11734637-11734638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4721004	chr7:11734645-11734646	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs534369213	chr7:11734667-11734668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	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
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Autism	22495309	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD
Melanoma	20877625	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	23813976	CNVD
Rett syndrome	21593744	CNVD

Chromatin state (count:162 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11732200-11737800	Weak transcription	A549	lung
2	chr7:11737800-11738000	Active TSS	A549	lung
3	chr7:11737800-11738200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr7:11737800-11738400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:11737800-11738400	Enhancers	Fetal Heart	heart
6	chr7:11737800-11738800	Enhancers	Fetal Lung	lung
7	chr7:11737800-11739000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr7:11738000-11738200	Enhancers	Adipose Nuclei	Adipose
9	chr7:11738000-11738200	Flanking Active TSS	A549	lung
10	chr7:11738000-11738400	Enhancers	Fetal Kidney	kidney
11	chr7:11738000-11738400	Enhancers	Ovary	ovary
12	chr7:11738000-11738600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:11738000-11738800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr7:11738000-11738800	Enhancers	HUVEC	blood vessel
15	chr7:11738200-11738400	Enhancers	Primary B cells from cord blood	blood
16	chr7:11738200-11738400	Enhancers	A549	lung
17	chr7:11738200-11738600	Active TSS	Adipose Nuclei	Adipose
18	chr7:11738200-11742600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:11738400-11738800	Weak transcription	A549	lung
20	chr7:11738400-11739000	Weak transcription	Primary B cells from cord blood	blood
21	chr7:11738400-11747000	Weak transcription	Fetal Kidney	kidney
22	chr7:11738600-11747200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:11738800-11739000	Enhancers	A549	lung
24	chr7:11738800-11741400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr7:11738800-11741800	Weak transcription	Fetal Lung	lung
26	chr7:11739000-11739200	Enhancers	Primary B cells from cord blood	blood
27	chr7:11739000-11739200	Flanking Active TSS	A549	lung
28	chr7:11739000-11741800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr7:11739200-11739600	Active TSS	A549	lung
30	chr7:11739600-11741200	Weak transcription	A549	lung
31	chr7:11741200-11741600	Enhancers	A549	lung
32	chr7:11741400-11742000	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr7:11741400-11742200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:11741400-11742400	Enhancers	NH-A	brain
35	chr7:11741400-11743000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr7:11741600-11742000	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr7:11741600-11742000	Flanking Active TSS	A549	lung
38	chr7:11741600-11742200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr7:11741600-11742200	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr7:11741600-11742200	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr7:11741800-11742200	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr7:11741800-11742200	Enhancers	H1 Cell Line	embryonic stem cell
43	chr7:11741800-11742200	Enhancers	H9 Cell Line	embryonic stem cell
44	chr7:11741800-11743200	Enhancers	Fetal Lung	lung
45	chr7:11741800-11743600	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr7:11742000-11746000	Enhancers	A549	lung
47	chr7:11742200-11746800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr7:11742200-11752800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr7:11742400-11746000	Weak transcription	NH-A	brain
50	chr7:11742600-11743000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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