Variant report

Variant	nsv981768
Chromosome Location	chr7:11852721-11857953
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 247 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:247 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547404920	chr7:11852722-11852723	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs570723941	chr7:11852784-11852785	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs539086749	chr7:11852825-11852826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185894054	chr7:11852831-11852832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116163221	chr7:11852898-11852899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535196201	chr7:11852903-11852904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190705703	chr7:11852918-11852919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372253913	chr7:11852930-11852931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7776992	chr7:11852975-11852976	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs541589114	chr7:11853000-11853001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7793940	chr7:11853008-11853009	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs578247044	chr7:11853050-11853051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138523361	chr7:11853064-11853065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7793953	chr7:11853072-11853073	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs529273101	chr7:11853115-11853116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549247177	chr7:11853121-11853122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4721015	chr7:11853165-11853166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183000090	chr7:11853279-11853280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187660792	chr7:11853283-11853284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570512780	chr7:11853302-11853303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201748585	chr7:11853341-11853342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536552212	chr7:11853346-11853347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539350392	chr7:11853366-11853367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs60119891	chr7:11853369-11853370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560272210	chr7:11853373-11853374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201573266	chr7:11853375-11853376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12670319	chr7:11853378-11853379	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs115082813	chr7:11853381-11853382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs61350544	chr7:11853384-11853385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535065703	chr7:11853418-11853419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555196872	chr7:11853496-11853497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150235102	chr7:11853516-11853517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534944969	chr7:11853518-11853519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192089810	chr7:11853551-11853552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7798322	chr7:11853553-11853554	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs183269122	chr7:11853590-11853591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557675066	chr7:11853597-11853598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187327158	chr7:11853607-11853608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs7798199	chr7:11853610-11853611	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs138809472	chr7:11853620-11853621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149374375	chr7:11853649-11853650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs376080324	chr7:11853669-11853670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs2355100	chr7:11853670-11853671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563959738	chr7:11853680-11853681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs144696351	chr7:11853703-11853704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs549698134	chr7:11853705-11853706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs386710344	chr7:11853708-11853709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528925452	chr7:11853709-11853710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs62435373	chr7:11853721-11853722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577708966	chr7:11853748-11853749	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11850000-11852800	Active TSS	A549	lung
2	chr7:11852800-11853600	Weak transcription	A549	lung
3	chr7:11853600-11854400	Enhancers	A549	lung
4	chr7:11854400-11855400	Weak transcription	A549	lung
5	chr7:11855400-11856800	Enhancers	A549	lung
6	chr7:11855600-11855800	Enhancers	Fetal Kidney	kidney
7	chr7:11855800-11856800	Weak transcription	Fetal Kidney	kidney
8	chr7:11856400-11856600	Bivalent Enhancer	Fetal Brain Male	brain
9	chr7:11856400-11856800	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr7:11856400-11857200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr7:11856400-11857400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr7:11856400-11857600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr7:11856400-11858200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr7:11856600-11857000	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr7:11856600-11857200	Enhancers	Duodenum Mucosa	Duodenum
16	chr7:11856600-11857400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr7:11856600-11857400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr7:11856600-11857600	Enhancers	Fetal Brain Male	brain
19	chr7:11856600-11858600	Enhancers	HUVEC	blood vessel
20	chr7:11856600-11858800	Enhancers	Fetal Lung	lung
21	chr7:11856800-11857000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:11856800-11857200	Enhancers	H1 Cell Line	embryonic stem cell
23	chr7:11856800-11857200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr7:11856800-11858200	Active TSS	A549	lung
25	chr7:11856800-11858400	Enhancers	Fetal Kidney	kidney
26	chr7:11857000-11857200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr7:11857000-11857400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr7:11857000-11857400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:11857000-11858400	Enhancers	Fetal Brain Female	brain
30	chr7:11857200-11857400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr7:11857200-11857600	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr7:11857400-11858200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr7:11857600-11858000	Weak transcription	Fetal Brain Male	brain
34	chr7:11857600-11858200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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