Variant report

Variant	nsv606217
Chromosome Location	chr7:11932891-11962120
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	chr7:11961967..11964021-chr7:11967210..11969257,2	K562	blood:

Extended variants
information (count: 367 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1961842	chr7:11932891-11932892	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs141918649	chr7:11932914-11932915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548423993	chr7:11932946-11932947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541871220	chr7:11932958-11932959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568110646	chr7:11932968-11932969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1961841	chr7:11932983-11932984	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs553880704	chr7:11932987-11932988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552152387	chr7:11934620-11934621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571863517	chr7:11934712-11934713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs180690547	chr7:11934718-11934719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530759560	chr7:11934772-11934773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557471195	chr7:11934880-11934881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574204824	chr7:11934887-11934888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186043603	chr7:11934900-11934901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553341450	chr7:11934908-11934909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs17165329	chr7:11934920-11934921	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs7799863	chr7:11934993-11934994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541314538	chr7:11935027-11935028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs61478878	chr7:11935028-11935029	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs543240278	chr7:11935041-11935042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563014994	chr7:11935044-11935045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528997320	chr7:11935051-11935052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548658281	chr7:11935117-11935118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs559301040	chr7:11935137-11935138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528118787	chr7:11935178-11935179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536754060	chr7:11935417-11935418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553238100	chr7:11935421-11935422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570575257	chr7:11935447-11935448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs139473350	chr7:11935464-11935465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538680228	chr7:11935471-11935472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs80011285	chr7:11935499-11935500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577536216	chr7:11935507-11935508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536027068	chr7:11935542-11935543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543177186	chr7:11935553-11935554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556743793	chr7:11935587-11935588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190758878	chr7:11935619-11935620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs11768252	chr7:11935659-11935660	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs559220037	chr7:11935662-11935663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs144986524	chr7:11935692-11935693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549588133	chr7:11935748-11935749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs11761534	chr7:11935785-11935786	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs71745196	chr7:11935789-11935790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs369733658	chr7:11935825-11935826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565544292	chr7:11935826-11935827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531241122	chr7:11935849-11935850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs373567829	chr7:11935890-11935891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185791727	chr7:11935899-11935900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs377034655	chr7:11935916-11935917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs118098913	chr7:11935956-11935957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535282987	chr7:11935982-11935983	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11932600-11933000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:11934600-11935200	Enhancers	Fetal Brain Female	brain
3	chr7:11935400-11936200	Enhancers	Fetal Brain Male	brain
4	chr7:11935800-11936800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:11936200-11936800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr7:11936800-11937200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr7:11937200-11937400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr7:11937400-11940200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr7:11940000-11941000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr7:11940200-11941200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr7:11940600-11941000	Enhancers	H1 Cell Line	embryonic stem cell
12	chr7:11940600-11941200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr7:11940800-11941200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr7:11950000-11950800	Enhancers	Hela-S3	cervix
15	chr7:11951200-11951800	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr7:11951200-11952400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr7:11951400-11951800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr7:11951400-11951800	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr7:11951400-11951800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:11951400-11952000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr7:11951400-11952000	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr7:11951400-11952200	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr7:11951600-11952000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:11951600-11952000	Enhancers	HUES6 Cell Line	embryonic stem cell

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