Variant report

Variant	nsv982545
Chromosome Location	chr9:99920076-99923486
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTSL2-5	chr9:99922464-99922684	NONHSAT133483
2	lnc-CTSL2-4	chr9:99922464-99922684	ENSG00000159712.9
3	lnc-CTSL2-5	chr9:99920066-99920111	NONHSAT133483

Extended variants
information (count: 121 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567902928	chr9:99920103-99920104	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs201769036	chr9:99920104-99920105	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs116201067	chr9:99920129-99920130	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532502454	chr9:99920145-99920146	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12003313	chr9:99920155-99920156	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs565926331	chr9:99920168-99920169	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536541364	chr9:99920177-99920178	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191949588	chr9:99920192-99920193	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116685503	chr9:99920274-99920275	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150982786	chr9:99920289-99920290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370785779	chr9:99920349-99920350	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558652834	chr9:99920391-99920392	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140845571	chr9:99920445-99920446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539789620	chr9:99920468-99920469	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79068336	chr9:99920507-99920508	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77749994	chr9:99920510-99920511	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558511835	chr9:99920598-99920599	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534564952	chr9:99920622-99920623	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574855790	chr9:99920695-99920696	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs199668147	chr9:99920696-99920697	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552700713	chr9:99920704-99920705	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs398011574	chr9:99920705-99920706	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10739315	chr9:99920706-99920707	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199757486	chr9:99920710-99920711	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150110513	chr9:99920792-99920793	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373520898	chr9:99920801-99920802	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35643921	chr9:99920816-99920817	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542909203	chr9:99920822-99920823	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532426764	chr9:99920823-99920824	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138424653	chr9:99920873-99920874	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142764134	chr9:99921006-99921007	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs10759496	chr9:99921017-99921018	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs565352384	chr9:99921093-99921094	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs532503127	chr9:99921094-99921095	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs547911203	chr9:99921133-99921134	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs137919477	chr9:99921155-99921156	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs530147056	chr9:99921156-99921157	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs548488653	chr9:99921172-99921173	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs569985026	chr9:99921195-99921196	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs184255206	chr9:99921213-99921214	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs116926154	chr9:99921240-99921241	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs536215919	chr9:99921256-99921257	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs570489217	chr9:99921279-99921280	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs534408162	chr9:99921280-99921281	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs553075813	chr9:99921295-99921296	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs574071559	chr9:99921340-99921341	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs189068713	chr9:99921351-99921352	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs554807422	chr9:99921352-99921353	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs144088172	chr9:99921357-99921358	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs574174037	chr9:99921361-99921362	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
overgrowth syndrome	16570072	CNVD
Neurodevelopmental disorder	22521361	CNVD
Nicotine dependence	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:99901000-99921000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:99909800-99920200	Weak transcription	Brain Angular Gyrus	brain
3	chr9:99911600-99957600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr9:99912200-99921200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr9:99912200-99922800	Weak transcription	Brain Anterior Caudate	brain
6	chr9:99912200-99923800	Strong transcription	H1 Cell Line	embryonic stem cell
7	chr9:99913000-99924400	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr9:99913200-99923600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
9	chr9:99913200-99924200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr9:99913400-99924600	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr9:99913400-99930800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr9:99913600-99924200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr9:99913600-99930800	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr9:99916800-99921800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr9:99918000-99946800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr9:99918400-99921000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr9:99920000-99920800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr9:99920200-99921000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr9:99920800-99923800	Strong transcription	H9 Cell Line	embryonic stem cell
20	chr9:99921000-99921200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr9:99921000-99921200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
22	chr9:99921000-99922000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr9:99921200-99921400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr9:99921400-99948800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr9:99921800-99922400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
26	chr9:99922000-99937800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr9:99922400-99923200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr9:99922800-99923000	Enhancers	Brain Anterior Caudate	brain
29	chr9:99922800-99926200	Weak transcription	Dnd41	blood
30	chr9:99923200-99923600	Strong transcription	ES-I3 Cell Line	embryonic stem cell

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