Variant report

Variant	esv3437777
Chromosome Location	chr20:30013816-30016664
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr20:30013786-30013875	HepG2	liver:	n/a	chr20:30013846-30013859 chr20:30013846-30013857
2	NR2F2	chr20:30015816-30016183	K562	blood:	n/a	n/a
3	NR2F2	chr20:30015727-30016285	K562	blood:	n/a	n/a
4	PAX5	chr20:30014039-30014192	GM12878	blood:	n/a	n/a
5	PAX5	chr20:30013982-30014212	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:30006873..30009795-chr20:30012384..30014922,2	MCF-7	breast:

Variant related genes	Relation type
DEFB122	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527356581	chr20:30013994-30013995	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs371890547	chr20:30013995-30013996	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs540739674	chr20:30014001-30014002	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs112812156	chr20:30014049-30014050	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs530205503	chr20:30014077-30014078	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs554911532	chr20:30014093-30014094	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs564082533	chr20:30014108-30014109	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs150897155	chr20:30014134-30014135	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs552954461	chr20:30014151-30014152	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs569565123	chr20:30014155-30014156	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs368681486	chr20:30014156-30014157	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs13041258	chr20:30014201-30014202	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs568534623	chr20:30014206-30014207	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs534849397	chr20:30015745-30015746	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs558008268	chr20:30015749-30015750	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs571434451	chr20:30015778-30015779	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs7351401	chr20:30015785-30015786	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs557046716	chr20:30015814-30015815	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs573626940	chr20:30015825-30015826	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs142654049	chr20:30015883-30015884	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs556056987	chr20:30015906-30015907	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs7354412	chr20:30015908-30015909	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs369271145	chr20:30015913-30015914	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs182390921	chr20:30015918-30015919	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs572628851	chr20:30015926-30015927	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs373003138	chr20:30015962-30015963	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs541296774	chr20:30016032-30016033	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs564354607	chr20:30016050-30016051	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs533309051	chr20:30016074-30016075	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs377462865	chr20:30016087-30016088	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs543558751	chr20:30016218-30016219	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs547526778	chr20:30016237-30016238	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Non-syndromic sensorineural hearing loss	18451855	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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