Variant report

Variant	esv3378720
Chromosome Location	chr22:32725002-32728000
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RFPL3-AS1-3	chr22:32726924-32727255	NONHSAT084961
2	lnc-RFPL3-AS1-3	chr22:32725115-32725700	NONHSAT084961

Extended variants
information (count: 208 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:208 , 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	rs188564851	chr22:32725020-32725021	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs5753983	chr22:32725026-32725027	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs569974244	chr22:32725051-32725052	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs562493949	chr22:32725061-32725062	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs373355308	chr22:32725062-32725063	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs145609644	chr22:32725070-32725071	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs148492147	chr22:32725076-32725077	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs534743997	chr22:32725101-32725102	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs55839148	chr22:32725162-32725163	Weak transcription ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs534024878	chr22:32725179-32725180	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
11	rs568618298	chr22:32725206-32725207	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
12	rs73398880	chr22:32725266-32725267	Weak transcription ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs556405644	chr22:32725281-32725282	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
14	rs372668233	chr22:32725296-32725297	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
15	rs117858016	chr22:32725350-32725351	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
16	rs546193310	chr22:32725357-32725358	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
17	rs558236596	chr22:32725370-32725371	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
18	rs571982743	chr22:32725374-32725375	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
19	rs540714172	chr22:32725375-32725376	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
20	rs192795552	chr22:32725394-32725395	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
21	rs569972740	chr22:32725395-32725396	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
22	rs574201178	chr22:32725398-32725399	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
23	rs543561053	chr22:32725400-32725401	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
24	rs563562232	chr22:32725419-32725420	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs532661054	chr22:32725426-32725427	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs5998416	chr22:32725427-32725428	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs559824248	chr22:32725485-32725486	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs144320249	chr22:32725498-32725499	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs568015735	chr22:32725500-32725501	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs536969045	chr22:32725514-32725515	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs528484737	chr22:32725520-32725521	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs112100051	chr22:32725524-32725525	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs372689669	chr22:32725554-32725555	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs568527423	chr22:32725559-32725560	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs576637512	chr22:32725569-32725570	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs201439381	chr22:32725574-32725575	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs4613385	chr22:32725575-32725576	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs562258525	chr22:32725584-32725585	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs527430292	chr22:32725596-32725597	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs5844973	chr22:32725599-32725600	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs114120627	chr22:32725607-32725608	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs549976178	chr22:32725611-32725612	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs5844975	chr22:32725640-32725641	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs4474972	chr22:32725643-32725644	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs202196013	chr22:32725644-32725645	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs368919905	chr22:32725649-32725650	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs35158243	chr22:32725695-32725696	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs71296608	chr22:32725701-32725702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs5007305	chr22:32725708-32725709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs151223996	chr22:32725713-32725714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19384346	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Deafness	17160897	CNVD
Bipolar disorder	19114987	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32716600-32728400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:32721800-32731400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr22:32722000-32729600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr22:32723800-32726600	Weak transcription	HUVEC	blood vessel
5	chr22:32724600-32725400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr22:32725400-32727200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr22:32726600-32728400	Enhancers	HUVEC	blood vessel
8	chr22:32726800-32728200	Enhancers	Lung	lung
9	chr22:32726800-32728600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
10	chr22:32727000-32728400	Enhancers	Spleen	Spleen
11	chr22:32727200-32727600	Bivalent/Poised TSS	Adipose Nuclei	Adipose
12	chr22:32727200-32728200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr22:32727200-32728600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr22:32727600-32727800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
15	chr22:32727600-32728400	Bivalent Enhancer	Adipose Nuclei	Adipose
16	chr22:32727600-32728400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle

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