Variant report

Variant	nsv887618
Chromosome Location	chr7:11893588-11939433
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	chr7:11869044..11871618-chr7:11911961..11914333,2	K562	blood:

Extended variants
information (count: 941 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:941 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541574624	chr7:11893806-11893807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75143697	chr7:11893808-11893809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185332508	chr7:11893825-11893826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543440126	chr7:11893837-11893838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563326034	chr7:11893838-11893839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528771009	chr7:11893855-11893856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139358062	chr7:11893868-11893869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530455350	chr7:11893875-11893876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7786553	chr7:11893886-11893887	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs189396240	chr7:11893905-11893906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181272293	chr7:11893931-11893932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547532438	chr7:11893956-11893957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183513689	chr7:11894001-11894002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs116264091	chr7:11894013-11894014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549845249	chr7:11894027-11894028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569668343	chr7:11894032-11894033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75966695	chr7:11894039-11894040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188291596	chr7:11894089-11894090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181815799	chr7:11894124-11894125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565736003	chr7:11894207-11894208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187410945	chr7:11894216-11894217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375267995	chr7:11894278-11894279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534928988	chr7:11894283-11894284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558308897	chr7:11894284-11894285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572674787	chr7:11894287-11894288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7800247	chr7:11894396-11894397	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs543697024	chr7:11894422-11894423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191801490	chr7:11894477-11894478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573700503	chr7:11894489-11894490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371477944	chr7:11894529-11894530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs79900169	chr7:11894531-11894532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181499960	chr7:11894577-11894578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528555291	chr7:11894590-11894591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540893123	chr7:11894615-11894616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186980830	chr7:11894616-11894617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35595382	chr7:11894631-11894632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs59539496	chr7:11894640-11894641	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs190128181	chr7:11894653-11894654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182726967	chr7:11894666-11894667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528914366	chr7:11894670-11894671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566628075	chr7:11894694-11894695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538580501	chr7:11894705-11894706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368228997	chr7:11894707-11894708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186725445	chr7:11894739-11894740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528849297	chr7:11894827-11894828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs386710348	chr7:11894832-11894833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2355113	chr7:11894833-11894834	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs534699678	chr7:11894840-11894841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189952673	chr7:11894841-11894842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73676250	chr7:11894853-11894854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	18451855	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	chr7:11893800-11896000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:11896000-11896200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:11896200-11897000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:11897800-11898600	Enhancers	Fetal Kidney	kidney
5	chr7:11897800-11898600	Enhancers	Fetal Lung	lung
6	chr7:11897800-11898800	Enhancers	HUVEC	blood vessel
7	chr7:11898000-11898400	Enhancers	Hela-S3	cervix
8	chr7:11898000-11898600	Enhancers	Fetal Brain Female	brain
9	chr7:11898200-11898600	Enhancers	Adipose Nuclei	Adipose
10	chr7:11900600-11902400	Enhancers	Fetal Heart	heart
11	chr7:11902400-11902600	Flanking Active TSS	Fetal Heart	heart
12	chr7:11902600-11902800	Enhancers	Fetal Heart	heart
13	chr7:11902800-11903000	Flanking Active TSS	Fetal Heart	heart
14	chr7:11903000-11903200	Enhancers	Fetal Heart	heart
15	chr7:11904400-11905400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:11905400-11906000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:11914400-11915800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:11926000-11926600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:11927200-11927400	Enhancers	H1 Cell Line	embryonic stem cell
20	chr7:11927600-11930800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr7:11927600-11931800	Weak transcription	Pancreas	Pancrea
22	chr7:11930800-11931600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
23	chr7:11931600-11932600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:11931800-11932000	ZNF genes & repeats	Pancreas	Pancrea
25	chr7:11932600-11933000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:11934600-11935200	Enhancers	Fetal Brain Female	brain
27	chr7:11935400-11936200	Enhancers	Fetal Brain Male	brain
28	chr7:11935800-11936800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr7:11936200-11936800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr7:11936800-11937200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr7:11937200-11937400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr7:11937400-11940200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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