Variant report

Variant	esv3346667
Chromosome Location	chr7:12566127-12569125
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SCIN-2	chr7:12568528-12568670	ENSG00000226690.2
2	lnc-SCIN-2	chr7:12568528-12568670	ENSG00000226690.2
3	lnc-SCIN-2	chr7:12568550-12568670	NONHSAT119233
4	lnc-SCIN-2	chr7:12568528-12568554	ENSG00000226690.2

Extended variants
information (count: 151 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:151 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578227245	chr7:12566135-12566136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs10237508	chr7:12566155-12566156	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs185738121	chr7:12566172-12566173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143582919	chr7:12566177-12566178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554864600	chr7:12566192-12566193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574770600	chr7:12566208-12566209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562691079	chr7:12566225-12566226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189297729	chr7:12566234-12566235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532552248	chr7:12566243-12566244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376404678	chr7:12566328-12566329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181604741	chr7:12566340-12566341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562808412	chr7:12566394-12566395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531756603	chr7:12566396-12566397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200611165	chr7:12566407-12566408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs77946424	chr7:12566426-12566427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78374939	chr7:12566440-12566441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372262721	chr7:12566483-12566484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186283347	chr7:12566491-12566492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530004549	chr7:12566499-12566500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374454516	chr7:12566505-12566506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201827901	chr7:12566534-12566535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376115761	chr7:12566548-12566549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376888413	chr7:12566573-12566574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs59270251	chr7:12566584-12566585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546860657	chr7:12566591-12566592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139203678	chr7:12566596-12566597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538413578	chr7:12566614-12566615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76629212	chr7:12566627-12566628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs13222268	chr7:12566644-12566645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13222544	chr7:12566645-12566646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558633518	chr7:12566663-12566664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190608799	chr7:12566673-12566674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12699394	chr7:12566677-12566678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12699395	chr7:12566693-12566694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541450302	chr7:12566706-12566707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568830852	chr7:12566712-12566713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571518239	chr7:12566723-12566724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557384151	chr7:12566724-12566725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76107202	chr7:12566742-12566743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75772423	chr7:12566743-12566744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377451039	chr7:12566756-12566757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13222484	chr7:12566772-12566773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537476729	chr7:12566812-12566813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372406822	chr7:12566821-12566822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375971910	chr7:12566835-12566836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201912540	chr7:12566854-12566855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370780645	chr7:12566858-12566859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs62449554	chr7:12566866-12566867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376706743	chr7:12566900-12566901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371592766	chr7:12566901-12566902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12565000-12569200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr7:12568400-12568600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr7:12568600-12569400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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