Variant report

Variant	nsv887620
Chromosome Location	chr7:11908763-11993510
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:11869044..11871618-chr7:11911961..11914333,2	K562	blood:
2	chr7:11961967..11964021-chr7:11967210..11969257,2	K562	blood:
3	chr7:11961967..11964021-chr7:11967210..11969257,2	K562	blood:

Extended variants
information (count: 1048 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1048 , 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	rs569730410	chr7:11914401-11914402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs73676265	chr7:11914417-11914418	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs569385975	chr7:11914427-11914428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566028522	chr7:11914438-11914439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572438365	chr7:11914491-11914492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1815107	chr7:11914522-11914523	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs191431851	chr7:11914544-11914545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548797319	chr7:11914567-11914568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567272245	chr7:11914580-11914581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183639649	chr7:11914591-11914592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572250279	chr7:11914686-11914687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1815108	chr7:11914696-11914697	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs4257926	chr7:11914712-11914713	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs141630055	chr7:11914741-11914742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs76204604	chr7:11914780-11914781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561864009	chr7:11914781-11914782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs527393872	chr7:11914797-11914798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547424464	chr7:11914849-11914850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190439526	chr7:11914871-11914872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112311722	chr7:11914883-11914884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182203657	chr7:11914886-11914887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs186911423	chr7:11914913-11914914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs376311525	chr7:11914923-11914924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554495175	chr7:11914931-11914932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190106472	chr7:11914964-11914965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181279126	chr7:11914981-11914982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535496461	chr7:11914998-11914999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555337853	chr7:11915042-11915043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368530586	chr7:11915080-11915081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs146131755	chr7:11915107-11915108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs115227828	chr7:11915109-11915110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73676267	chr7:11915110-11915111	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs556534758	chr7:11915141-11915142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs28615878	chr7:11915170-11915171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs4401739	chr7:11915200-11915201	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs541896813	chr7:11915221-11915222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs201994829	chr7:11915228-11915229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs200010815	chr7:11915229-11915230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs146088808	chr7:11915232-11915233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs368068627	chr7:11915242-11915243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs10499395	chr7:11915243-11915244	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs543927933	chr7:11915270-11915271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185869398	chr7:11915312-11915313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533377455	chr7:11915352-11915353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs111415581	chr7:11915362-11915363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs190284371	chr7:11915367-11915368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs563685030	chr7:11915369-11915370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529544736	chr7:11915385-11915386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372437998	chr7:11915393-11915394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs73676269	chr7:11915418-11915419	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11914400-11915800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:11926000-11926600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:11927200-11927400	Enhancers	H1 Cell Line	embryonic stem cell
4	chr7:11927600-11930800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr7:11927600-11931800	Weak transcription	Pancreas	Pancrea
6	chr7:11930800-11931600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
7	chr7:11931600-11932600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:11931800-11932000	ZNF genes & repeats	Pancreas	Pancrea
9	chr7:11932600-11933000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:11934600-11935200	Enhancers	Fetal Brain Female	brain
11	chr7:11935400-11936200	Enhancers	Fetal Brain Male	brain
12	chr7:11935800-11936800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:11936200-11936800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr7:11936800-11937200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr7:11937200-11937400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr7:11937400-11940200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr7:11940000-11941000	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr7:11940200-11941200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr7:11940600-11941000	Enhancers	H1 Cell Line	embryonic stem cell
20	chr7:11940600-11941200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr7:11940800-11941200	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr7:11950000-11950800	Enhancers	Hela-S3	cervix
23	chr7:11951200-11951800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr7:11951200-11952400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr7:11951400-11951800	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr7:11951400-11951800	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr7:11951400-11951800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:11951400-11952000	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr7:11951400-11952000	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr7:11951400-11952200	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr7:11951600-11952000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:11951600-11952000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr7:11969800-11971400	Enhancers	Hela-S3	cervix
34	chr7:11971000-11971800	Active TSS	A549	lung
35	chr7:11975800-11976200	Enhancers	Fetal Lung	lung
36	chr7:11989200-11989800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:11989400-11989600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:11989400-11989600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:11989400-11989600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr7:11989400-11989800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr7:11989400-11990200	ZNF genes & repeats	Pancreas	Pancrea
42	chr7:11989600-11997200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr7:11989800-11990000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:11989800-11990600	Enhancers	Placenta	Placenta
45	chr7:11989800-11991200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr7:11990400-11990800	Weak transcription	Pancreas	Pancrea
47	chr7:11990400-11991000	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr7:11991000-11991400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr7:11991400-11991800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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