Variant report

Variant	esv3371175
Chromosome Location	chr2:209886495-209902409
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	chr2:209894597-209894764	l_2022_chr2:209894596-209898538_76bGuttman_hES
2	lnc-PTH2R-2	chr2:209896369-209898538	l_2022_chr2:209894596-209898538_76bGuttman_hES

Extended variants
information (count: 111 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183717151	chr2:209894619-209894620	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs187902923	chr2:209894651-209894652	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs146104636	chr2:209894684-209894685	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs561304001	chr2:209894744-209894745	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs549246524	chr2:209896415-209896416	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs561044539	chr2:209896455-209896456	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs184814590	chr2:209896459-209896460	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs540464174	chr2:209896489-209896490	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs560388600	chr2:209896538-209896539	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs532302570	chr2:209896564-209896565	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs189626527	chr2:209896599-209896600	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs79515350	chr2:209896600-209896601	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs531222149	chr2:209896639-209896640	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs372940220	chr2:209896714-209896715	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs548152271	chr2:209896761-209896762	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs568686865	chr2:209896812-209896813	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs112432451	chr2:209896816-209896817	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs534503284	chr2:209896822-209896823	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs553986162	chr2:209896842-209896843	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs142988289	chr2:209896869-209896870	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs531330032	chr2:209896901-209896902	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs147743943	chr2:209896981-209896982	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs556261013	chr2:209896983-209896984	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs576448577	chr2:209897010-209897011	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs541893660	chr2:209897114-209897115	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs181556864	chr2:209897162-209897163	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs574692155	chr2:209897177-209897178	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs540527421	chr2:209897217-209897218	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs185924164	chr2:209897247-209897248	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs532366107	chr2:209897255-209897256	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs570052258	chr2:209897265-209897266	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs9646841	chr2:209897271-209897272	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs191891618	chr2:209897279-209897280	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs73986687	chr2:209897294-209897295	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs73986688	chr2:209897298-209897299	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs375384324	chr2:209897299-209897300	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs569146935	chr2:209897305-209897306	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs144210083	chr2:209897486-209897487	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs80098798	chr2:209897552-209897553	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs570782721	chr2:209897636-209897637	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs539662738	chr2:209897647-209897648	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs75598907	chr2:209897654-209897655	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs570081467	chr2:209897683-209897684	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs73986689	chr2:209897698-209897699	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs147759033	chr2:209897714-209897715	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs536847501	chr2:209897777-209897778	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs572404004	chr2:209897796-209897797	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs200402805	chr2:209897832-209897833	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs181184027	chr2:209897844-209897845	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs554121798	chr2:209897912-209897913	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:7 , 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
2	chr2:209901400-209901800	Enhancers	H1 Cell Line	embryonic stem cell
3	chr2:209901400-209901800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:209901400-209901800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr2:209901400-209902000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr2:209901400-209902000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr2:209902000-209904400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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