Variant report

Variant	nsv979304
Chromosome Location	chr2:209897844-209901306
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTH2R-2	chr2:209896369-209898538	l_2022_chr2:209894596-209898538_76bGuttman_hES

Extended variants
information (count: 26 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181184027	chr2:209897844-209897845	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs554121798	chr2:209897912-209897913	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs577193250	chr2:209897948-209897949	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs546048173	chr2:209897991-209897992	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs16842268	chr2:209898015-209898016	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs140218152	chr2:209898016-209898017	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs541918786	chr2:209898074-209898075	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs368685459	chr2:209898075-209898076	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs186628242	chr2:209898085-209898086	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs150314542	chr2:209898270-209898271	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs567161896	chr2:209898278-209898279	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs546955915	chr2:209898305-209898306	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs564475338	chr2:209898356-209898357	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs533426560	chr2:209898378-209898379	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs145022703	chr2:209898397-209898398	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs190729566	chr2:209898409-209898410	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs74845860	chr2:209898427-209898428	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs149080194	chr2:209898443-209898444	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs370934967	chr2:209898449-209898450	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs535051559	chr2:209898493-209898494	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs561448597	chr2:209901201-209901202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565468054	chr2:209901202-209901203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147288009	chr2:209901214-209901215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544381926	chr2:209901268-209901269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs561389906	chr2:209901280-209901281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186275526	chr2:209901293-209901294	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Developmental delay	21147756	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209901200-209902000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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