Variant report

Variant	nsv432100
Chromosome Location	chr20:12803700-12860100
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TASP1-4	chr20:12845852-12846325	NR_109868
2	lnc-TASP1-4	chr20:12849277-12849369	NONHSAT078658
3	lnc-TASP1-4	chr20:12821289-12822074	NONHSAT078658
4	lnc-TASP1-4	chr20:12847152-12847253	NR_109868
5	lnc-TASP1-4	chr20:12847152-12847253	XLOC_013657
6	lnc-TASP1-4	chr20:12822995-12823149	NONHSAT078658
7	lnc-TASP1-4	chr20:12853380-12853556	NONHSAT078658
8	lnc-TASP1-4	chr20:12845850-12846325	XLOC_013657
9	lnc-TASP1-4	chr20:12830956-12831068	NONHSAT078658
10	lnc-TASP1-4	chr20:12835643-12835764	NONHSAT078658

No data

Extended variants
information (count: 1160 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1160 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189865866	chr20:12803714-12803715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545165990	chr20:12803722-12803723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565077300	chr20:12803745-12803746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146388950	chr20:12803757-12803758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547212664	chr20:12803806-12803807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112199284	chr20:12803992-12803993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73265181	chr20:12803993-12803994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550076832	chr20:12804014-12804015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569548225	chr20:12804015-12804016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538670006	chr20:12804022-12804023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551946444	chr20:12804068-12804069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537174036	chr20:12804086-12804087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182225696	chr20:12804117-12804118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1413019	chr20:12804159-12804160	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs554422041	chr20:12804166-12804167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75110808	chr20:12804288-12804289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536519916	chr20:12804296-12804297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6109566	chr20:12804300-12804301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6033523	chr20:12804304-12804305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs151026732	chr20:12804311-12804312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140939403	chr20:12804314-12804315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187539713	chr20:12804320-12804321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553342603	chr20:12804350-12804351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565012161	chr20:12804366-12804367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572224547	chr20:12804450-12804451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541163500	chr20:12804474-12804475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560730529	chr20:12804493-12804494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11908263	chr20:12804494-12804495	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs549799038	chr20:12804515-12804516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563610407	chr20:12804533-12804534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531967612	chr20:12804608-12804609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192590477	chr20:12804626-12804627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552223604	chr20:12804646-12804647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538846883	chr20:12804662-12804663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369452347	chr20:12804708-12804709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534691826	chr20:12804745-12804746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6109567	chr20:12804761-12804762	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs845598	chr20:12804771-12804772	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs149785550	chr20:12804774-12804775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147915278	chr20:12804828-12804829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570330915	chr20:12804831-12804832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544290788	chr20:12804910-12804911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538623610	chr20:12804922-12804923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77016441	chr20:12804952-12804953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141319735	chr20:12804955-12804956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541124378	chr20:12804995-12804996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374580117	chr20:12805000-12805001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113335283	chr20:12805054-12805055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574508357	chr20:12805071-12805072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112025620	chr20:12805103-12805104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:12802000-12804000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr20:12802000-12806600	Enhancers	Fetal Muscle Leg	muscle
3	chr20:12802200-12804400	Enhancers	Right Atrium	heart
4	chr20:12803000-12804000	Weak transcription	Ovary	ovary
5	chr20:12803000-12804400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr20:12804000-12806600	Enhancers	Ovary	ovary
7	chr20:12804200-12804400	Enhancers	Lung	lung
8	chr20:12804200-12806000	Enhancers	Brain Germinal Matrix	brain
9	chr20:12804200-12806200	Enhancers	Fetal Stomach	stomach
10	chr20:12804400-12805800	Weak transcription	Lung	lung
11	chr20:12804400-12806400	Weak transcription	Right Atrium	heart
12	chr20:12804600-12805200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr20:12804800-12805200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr20:12804800-12805200	Enhancers	Brain Substantia Nigra	brain
15	chr20:12804800-12806400	Enhancers	Fetal Lung	lung
16	chr20:12804800-12806600	Enhancers	Fetal Brain Female	brain
17	chr20:12805400-12805800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr20:12805400-12806000	Enhancers	Colon Smooth Muscle	Colon
19	chr20:12805600-12806400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr20:12805800-12806000	Enhancers	Fetal Muscle Trunk	muscle
21	chr20:12805800-12806600	Enhancers	Lung	lung
22	chr20:12806000-12806200	Enhancers	Stomach Smooth Muscle	stomach
23	chr20:12806000-12806400	Enhancers	Fetal Brain Male	brain
24	chr20:12806000-12806400	Active TSS	Fetal Muscle Trunk	muscle
25	chr20:12806000-12808600	Weak transcription	Brain Germinal Matrix	brain
26	chr20:12806400-12806600	Enhancers	Fetal Muscle Trunk	muscle
27	chr20:12806400-12806600	Enhancers	Right Atrium	heart
28	chr20:12806400-12808000	Weak transcription	Fetal Brain Male	brain
29	chr20:12806600-12808400	Weak transcription	Fetal Muscle Leg	muscle
30	chr20:12806600-12809400	Weak transcription	Fetal Brain Female	brain
31	chr20:12808000-12810200	Enhancers	Fetal Brain Male	brain
32	chr20:12808400-12808600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr20:12808400-12808800	Enhancers	Fetal Muscle Leg	muscle
34	chr20:12808400-12809000	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr20:12808400-12809000	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr20:12808400-12809000	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr20:12808400-12809400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr20:12808600-12809400	Enhancers	Brain Germinal Matrix	brain
39	chr20:12808600-12818200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr20:12808800-12809800	Weak transcription	Fetal Muscle Leg	muscle
41	chr20:12809000-12816400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr20:12809400-12809800	Enhancers	Fetal Brain Female	brain
43	chr20:12809400-12810200	Weak transcription	Brain Germinal Matrix	brain
44	chr20:12810000-12810200	Enhancers	Fetal Muscle Leg	muscle
45	chr20:12810200-12810600	Enhancers	Brain Germinal Matrix	brain
46	chr20:12815400-12815600	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr20:12815600-12816200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr20:12815800-12816800	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr20:12816200-12816800	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr20:12816400-12816600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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