Variant report

Variant	nsv1065145
Chromosome Location	chr20:12729803-12781534
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPTLC3-8	chr20:12740218-12743211	NONHSAT078657
2	lnc-SPTLC3-8	chr20:12743475-12745586	NONHSAT078657

Extended variants
information (count: 1884 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:1884 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557594271	chr20:12729815-12729816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556532097	chr20:12729830-12729831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577337973	chr20:12729841-12729842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6109535	chr20:12729860-12729861	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs560048925	chr20:12729865-12729866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189684931	chr20:12729918-12729919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542592033	chr20:12729958-12729959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562054863	chr20:12729990-12729991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1413020	chr20:12730042-12730043	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
10	rs542340146	chr20:12730051-12730052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551034223	chr20:12730067-12730068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564447442	chr20:12730075-12730076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs13039733	chr20:12730092-12730093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs13041017	chr20:12730095-12730096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533107773	chr20:12730102-12730103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs13039858	chr20:12730108-12730109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs13041115	chr20:12730109-12730110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs13041117	chr20:12730115-12730116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139914483	chr20:12730132-12730133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559360596	chr20:12730143-12730144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13041132	chr20:12730150-12730151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73263183	chr20:12730181-12730182	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs376194143	chr20:12730227-12730228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142192827	chr20:12730273-12730274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6041594	chr20:12730315-12730316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182075967	chr20:12730316-12730317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374351493	chr20:12730339-12730340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187881391	chr20:12730344-12730345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs193046032	chr20:12730387-12730388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539993533	chr20:12730414-12730415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553602015	chr20:12730415-12730416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573516945	chr20:12730490-12730491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542528241	chr20:12730494-12730495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544826612	chr20:12730501-12730502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184184588	chr20:12730524-12730525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200031273	chr20:12730541-12730542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs397866316	chr20:12730552-12730553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575568884	chr20:12730564-12730565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374075135	chr20:12730630-12730631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111942674	chr20:12730642-12730643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139205776	chr20:12730656-12730657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35649084	chr20:12730689-12730690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533262175	chr20:12730701-12730702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188287879	chr20:12730710-12730711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559896630	chr20:12730715-12730716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192333641	chr20:12730746-12730747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184135798	chr20:12730769-12730770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34983574	chr20:12730809-12730810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149869761	chr20:12730822-12730823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528282480	chr20:12730842-12730843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Glaucoma	21310917	CNVD
Alagille syndrome	22470819	CNVD
Lung cancer	16773561	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelofibrosis	22110671	CNVD
Kabuki syndrome	21720541	CNVD
Glioblastoma multiforme	22286061	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neurocytoma	17123091	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	20435627	CNVD

Chromatin state (count:264 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:12728000-12732000	Enhancers	H9 Cell Line	embryonic stem cell
2	chr20:12728600-12730000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr20:12728600-12730400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr20:12728600-12733000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr20:12728600-12733000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr20:12728800-12730000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr20:12728800-12733200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr20:12729400-12730600	Enhancers	H1 Cell Line	embryonic stem cell
9	chr20:12729600-12733200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr20:12729800-12730000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr20:12729800-12731200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr20:12729800-12740800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr20:12730000-12730400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr20:12730000-12731000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr20:12730000-12732600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr20:12730200-12732000	Enhancers	Fetal Muscle Leg	muscle
17	chr20:12730400-12731800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr20:12730400-12732600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr20:12730600-12731000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr20:12731000-12731600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr20:12731000-12732000	Enhancers	H1 Cell Line	embryonic stem cell
22	chr20:12731000-12732000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr20:12731200-12732000	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr20:12731200-12732000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr20:12731600-12732600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr20:12731800-12732800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr20:12732000-12732800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr20:12732000-12732800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr20:12732000-12733200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr20:12732000-12734200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr20:12732000-12734600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr20:12732600-12732800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr20:12732600-12733200	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr20:12732600-12734000	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr20:12732800-12733200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr20:12732800-12733200	Enhancers	H9 Cell Line	embryonic stem cell
37	chr20:12732800-12734200	Enhancers	H1 Cell Line	embryonic stem cell
38	chr20:12732800-12734200	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr20:12733000-12733600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr20:12733000-12733800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr20:12733200-12733600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr20:12733200-12733600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr20:12733200-12733600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr20:12733200-12733600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr20:12733200-12734400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr20:12733200-12738600	Active TSS	H9 Cell Line	embryonic stem cell
47	chr20:12733600-12734000	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr20:12733600-12734000	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr20:12733600-12734000	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr20:12733600-12734000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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