Variant report

Variant	nsv828704
Chromosome Location	chr20:22201916-22202702
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PAX1-4	chr20:22202209-22202299	XLOC_013483

Extended variants
information (count: 22 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561345849	chr20:22201975-22201976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189375129	chr20:22202069-22202070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548677392	chr20:22202098-22202099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192462991	chr20:22202114-22202115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563237745	chr20:22202141-22202142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141408346	chr20:22202163-22202164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370712683	chr20:22202234-22202235	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs373682102	chr20:22202289-22202290	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs1337905	chr20:22202294-22202295	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs533439795	chr20:22202356-22202357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150826613	chr20:22202360-22202361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376561290	chr20:22202425-22202426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550821854	chr20:22202444-22202445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139570506	chr20:22202462-22202463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs6106476	chr20:22202465-22202466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs377103277	chr20:22202467-22202468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142874719	chr20:22202477-22202478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553203860	chr20:22202535-22202536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551601976	chr20:22202538-22202539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185646815	chr20:22202637-22202638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539119362	chr20:22202655-22202656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559021102	chr20:22202687-22202688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

Disease	PMID	Source
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
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16608533	CNVD
Cancer	20164919	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22198200-22202800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr20:22198400-22202400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr20:22198400-22202400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr20:22198800-22203200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr20:22199000-22202600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr20:22200800-22203400	Weak transcription	Fetal Stomach	stomach
7	chr20:22201800-22203000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr20:22202400-22203600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr20:22202400-22203800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr20:22202400-22204200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr20:22202600-22203400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr20:22202600-22203400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr20:22202600-22203800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr20:22202600-22204000	Enhancers	HUES48 Cell Line	embryonic stem cell

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