Variant report

Variant	nsv964389
Chromosome Location	chr20:29896634-29899991
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr20:29897199-29897275	HepG2	liver:	n/a	n/a
2	POLR2A	chr20:29899065-29899220	ProgFib	skin:	n/a	n/a
3	POLR2A	chr20:29899090-29899122	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:29896928-29896978	MCF10A-Er-Src	breast:	n/a
2	chr20:29896928-29896978	PFSK-1	brain:	n/a
3	chr20:29896928-29896978	BJ	skin:	n/a
4	chr20:29896928-29896978	MCF-7	breast:	n/a
5	chr20:29896928-29896978	AoSMC	blood vessel:	n/a
6	chr20:29896928-29896978	AG09319	gingival:	n/a
7	chr20:29896928-29896978	SK-N-MC	brain:	n/a
8	chr20:29896928-29896978	HNPCEpiC	eye:	n/a
9	chr20:29896928-29896978	SKMC	muscle:	n/a
10	chr20:29896928-29896978	Jurkat	blood:	n/a
11	chr20:29896928-29896978	AG09309	skin:	n/a
12	chr20:29896928-29896978	GM12878	blood:	n/a
13	chr20:29896928-29896978	NHDF-neo	bronchial:	n/a
14	chr20:29896928-29896978	HRE	kidney:	n/a
15	chr20:29896928-29896978	Hepatocyte	liver:	n/a
16	chr20:29896928-29896978	GM12892	blood:	n/a
17	chr20:29896928-29896978	HEEpiC	esophagus:	n/a
18	chr20:29896928-29896978	NHBE	bronchial:	n/a
19	chr20:29896928-29896978	NT2-D1	testis:	n/a
20	chr20:29896928-29896978	GM06990	blood:	n/a
21	chr20:29896928-29896978	HCPEpiC	choroid plexus:	n/a
22	chr20:29896928-29896978	SK-N-SH	brain:	n/a
23	chr20:29896928-29896978	U87	brain:	n/a
24	chr20:29896928-29896978	Caco-2	colon:	n/a
25	chr20:29896928-29896978	GM19239	blood:	n/a
26	chr20:29896928-29896978	LNCaP	prostate:	n/a
27	chr20:29896928-29896978	SAEC	small airway:	n/a
28	chr20:29896928-29896978	K562	blood:	n/a
29	chr20:29896928-29896978	HCF	heart:	n/a
30	chr20:29896928-29896978	IMR90	lung:	fetal
31	chr20:29896928-29896978	HAEpiC	amniotic membrane:	n/a
32	chr20:29896928-29896978	HIPEpiC	eye:	n/a
33	chr20:29896928-29896978	HRCEpiC	kidney:	n/a
34	chr20:29896928-29896978	PrEC	prostate:	n/a
35	chr20:29896928-29896978	HEK293	kidney:	embryo
36	chr20:29896928-29896978	HepG2	liver:	n/a
37	chr20:29896928-29896978	HUVEC	blood vessel:	n/a
38	chr20:29896928-29896978	HMEC	breast:	n/a
39	chr20:29896928-29896978	T-47D	breast:	n/a
40	chr20:29896928-29896978	BE2_C	brain:	n/a
41	chr20:29896928-29896978	NB4	blood:	n/a
42	chr20:29896928-29896978	AG04449	skin:	fetal
43	chr20:29896928-29896978	AG04450	lung:	fetal
44	chr20:29896928-29896978	PANC-1	pancreas:	n/a
45	chr20:29896928-29896978	HCM	heart:	n/a
46	chr20:29896928-29896978	ProgFib	skin:	n/a
47	chr20:29896928-29896978	CMK	blood:	n/a
48	chr20:29896928-29896978	NH-A	brain:	n/a
49	chr20:29896928-29896978	HPAEpiC	pulmonary alveolar:	n/a
50	chr20:29896928-29896978	RPTEC	kidney:	n/a

No data

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DEFB116-4	chr20:29899691-29899765	NONHSAT079284
2	lnc-DEFB116-4	chr20:29899106-29899362	NONHSAT079284

No data

Variant related genes	Relation type
RPL31P3	TF binding region
DEFB116	TF binding region
RPL31P3	CpG island
DEFB116	CpG island

Extended variants
information (count: 22 )
Associated
traits (count: 68 )

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	rs572248634	chr20:29897203-29897204	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs367847596	chr20:29897217-29897218	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs376217953	chr20:29897236-29897237	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs553795153	chr20:29899076-29899077	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs556897603	chr20:29899118-29899119	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs376149753	chr20:29899129-29899130	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs544394686	chr20:29899137-29899138	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs570265462	chr20:29899150-29899151	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs370088618	chr20:29899158-29899159	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs571966124	chr20:29899163-29899164	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs555684127	chr20:29899189-29899190	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs4911555	chr20:29899208-29899209	Inactive region	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs117394984	chr20:29899223-29899224	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs557876204	chr20:29899235-29899236	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs373371852	chr20:29899319-29899320	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs543486392	chr20:29899341-29899342	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs576173305	chr20:29899344-29899345	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs576921002	chr20:29899717-29899718	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs148614732	chr20:29899718-29899719	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs186872895	chr20:29899729-29899730	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs557915052	chr20:29899730-29899731	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs6061207	chr20:29899742-29899743	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	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
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21806811	CNVD
Melanoma	21693616	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
colon cancer	17210682	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	22028636	CNVD
Breast cancer	21264507	CNVD
Thyroid cancer	19087340	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Soft tissue tumor	16732325	CNVD
Colorectal cancer	19359472	CNVD
Gastric cancer	17167181	CNVD
Myeloproliferative neoplasm	19047681	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	22860045	CNVD
Ovarian cancer	20844748	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
early-passage human iPS cells	21368824	CNVD
Lung cancer	18438408	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Oral cancer	21386901	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Amyotrophic lateral sclerosis	20688871	CNVD
Gastric cancer	22014070	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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