Variant report

Variant	nsv1019499
Chromosome Location	chr7:11727087-11766163
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: 1598 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:1598 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569690833	chr7:11727107-11727108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs367872011	chr7:11727114-11727115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76928401	chr7:11727144-11727145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549282646	chr7:11727152-11727153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188090866	chr7:11727172-11727173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534901243	chr7:11727174-11727175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114738027	chr7:11727177-11727178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546589289	chr7:11727186-11727187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs180903802	chr7:11727187-11727188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536750589	chr7:11727233-11727234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556597558	chr7:11727258-11727259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs117732137	chr7:11727262-11727263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542824393	chr7:11727289-11727290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1526531	chr7:11727335-11727336	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs573499859	chr7:11727462-11727463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371731235	chr7:11727494-11727495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545713835	chr7:11727498-11727499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532266202	chr7:11727511-11727512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4570036	chr7:11727527-11727528	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs530886257	chr7:11727537-11727538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551113376	chr7:11727643-11727644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs71550896	chr7:11727669-11727670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs71550897	chr7:11727676-11727677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569076894	chr7:11727683-11727684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561342364	chr7:11727686-11727687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs28694562	chr7:11727687-11727688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186401008	chr7:11727806-11727807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565855885	chr7:11727830-11727831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537632321	chr7:11727841-11727842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552042952	chr7:11727881-11727882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528420908	chr7:11727961-11727962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189630373	chr7:11727969-11727970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570916990	chr7:11727992-11727993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536615275	chr7:11728074-11728075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556657945	chr7:11728111-11728112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62433365	chr7:11728120-11728121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567276889	chr7:11728137-11728138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs367640299	chr7:11728230-11728231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553338538	chr7:11728239-11728240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139521481	chr7:11728276-11728277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79677881	chr7:11728283-11728284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559262057	chr7:11728327-11728328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181721278	chr7:11728331-11728332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544646883	chr7:11728367-11728368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186909860	chr7:11728406-11728407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1852350	chr7:11728537-11728538	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs540716971	chr7:11728540-11728541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78586050	chr7:11728541-11728542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191936026	chr7:11728564-11728565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563296977	chr7:11728569-11728570	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:199 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11724800-11731800	Weak transcription	A549	lung
2	chr7:11726800-11729600	Weak transcription	Fetal Lung	lung
3	chr7:11728600-11730200	Enhancers	Primary B cells from cord blood	blood
4	chr7:11729600-11729800	Enhancers	Fetal Lung	lung
5	chr7:11729800-11730400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr7:11729800-11730600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr7:11729800-11730600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr7:11729800-11730800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr7:11729800-11730800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr7:11730000-11730400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:11731800-11732200	Enhancers	A549	lung
12	chr7:11732200-11737800	Weak transcription	A549	lung
13	chr7:11737800-11738000	Active TSS	A549	lung
14	chr7:11737800-11738200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:11737800-11738400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr7:11737800-11738400	Enhancers	Fetal Heart	heart
17	chr7:11737800-11738800	Enhancers	Fetal Lung	lung
18	chr7:11737800-11739000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr7:11738000-11738200	Enhancers	Adipose Nuclei	Adipose
20	chr7:11738000-11738200	Flanking Active TSS	A549	lung
21	chr7:11738000-11738400	Enhancers	Fetal Kidney	kidney
22	chr7:11738000-11738400	Enhancers	Ovary	ovary
23	chr7:11738000-11738600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:11738000-11738800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr7:11738000-11738800	Enhancers	HUVEC	blood vessel
26	chr7:11738200-11738400	Enhancers	Primary B cells from cord blood	blood
27	chr7:11738200-11738400	Enhancers	A549	lung
28	chr7:11738200-11738600	Active TSS	Adipose Nuclei	Adipose
29	chr7:11738200-11742600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr7:11738400-11738800	Weak transcription	A549	lung
31	chr7:11738400-11739000	Weak transcription	Primary B cells from cord blood	blood
32	chr7:11738400-11747000	Weak transcription	Fetal Kidney	kidney
33	chr7:11738600-11747200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr7:11738800-11739000	Enhancers	A549	lung
35	chr7:11738800-11741400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr7:11738800-11741800	Weak transcription	Fetal Lung	lung
37	chr7:11739000-11739200	Enhancers	Primary B cells from cord blood	blood
38	chr7:11739000-11739200	Flanking Active TSS	A549	lung
39	chr7:11739000-11741800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr7:11739200-11739600	Active TSS	A549	lung
41	chr7:11739600-11741200	Weak transcription	A549	lung
42	chr7:11741200-11741600	Enhancers	A549	lung
43	chr7:11741400-11742000	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr7:11741400-11742200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:11741400-11742400	Enhancers	NH-A	brain
46	chr7:11741400-11743000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr7:11741600-11742000	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr7:11741600-11742000	Flanking Active TSS	A549	lung
49	chr7:11741600-11742200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr7:11741600-11742200	Enhancers	HUES48 Cell Line	embryonic stem cell

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