Variant report

Variant	esv2830049
Chromosome Location	chr20:29445644-29507776
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:70)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:70 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr20:29463964-29464153	GM12878	blood:	n/a	n/a
2	BCL11A	chr20:29447015-29447184	GM12878	blood:	n/a	n/a
3	BHLHE40	chr20:29462871-29462953	K562	blood:	n/a	n/a
4	CEBPB	chr20:29483555-29483577	HepG2	liver:	n/a	chr20:29483559-29483570
5	CEBPB	chr20:29460480-29460723	K562	blood:	n/a	n/a
6	CEBPD	chr20:29460489-29460959	K562	blood:	n/a	n/a
7	CHD2	chr20:29462906-29463111	K562	blood:	n/a	n/a
8	CTCF	chr20:29456700-29456850	HPF	lung:	n/a	n/a
9	CTCF	chr20:29481538-29481600	Medullo	brain:	n/a	n/a
10	CTCF	chr20:29485579-29485624	GM13976	blood:	n/a	n/a
11	CTCF	chr20:29507200-29507202	GM13976	blood:	n/a	n/a
12	CTCF	chr20:29493914-29493992	Lung_OC	lung:	n/a	n/a
13	CTCF	chr20:29491027-29491053	GM10266	blood:	n/a	n/a
14	CTCF	chr20:29447279-29447371	A549	lung:	n/a	n/a
15	CTCF	chr20:29507019-29507113	GM10248	blood:	n/a	n/a
16	CTCF	chr20:29454660-29454810	WI-38	lung:	n/a	n/a
17	CTCF	chr20:29456660-29456810	HA-sp	spinal cord:	n/a	n/a
18	CTCF	chr20:29456660-29456810	HCPEpiC	choroid plexus:	n/a	n/a
19	CTCF	chr20:29507387-29507465	GM20000	blood:	n/a	n/a
20	CTCF	chr20:29468407-29468441	LNCaP	prostate:	n/a	n/a
21	CTCF	chr20:29484140-29484290	BE2_C	brain:	n/a	n/a
22	CTCF	chr20:29450520-29450670	HAc	cerebellar:	n/a	n/a
23	CTCF	chr20:29507141-29507187	GM13976	blood:	n/a	n/a
24	CTCF	chr20:29507368-29507373	GM20000	blood:	n/a	n/a
25	EP300	chr20:29460624-29460749	K562	blood:	n/a	n/a
26	EP300	chr20:29462928-29462939	K562	blood:	n/a	n/a
27	FOSL2	chr20:29451074-29451442	HepG2	liver:	n/a	n/a
28	GATA1	chr20:29460460-29460979	PBDE	blood:	n/a	chr20:29460683-29460692
29	GATA2	chr20:29493253-29493476	K562	blood:	n/a	n/a
30	GATA2	chr20:29494052-29494416	K562	blood:	n/a	n/a
31	GATA2	chr20:29460497-29460784	K562	blood:	n/a	chr20:29460683-29460692
32	HEY1	chr20:29462851-29463161	K562	blood:	n/a	n/a
33	HEY1	chr20:29462929-29463143	K562	blood:	n/a	n/a
34	JUND	chr20:29469350-29469440	K562	blood:	n/a	chr20:29469377-29469389 chr20:29469384-29469392
35	MAFK	chr20:29479935-29479983	HepG2	liver:	n/a	n/a
36	MAX	chr20:29462797-29463083	K562	blood:	n/a	n/a
37	MAX	chr20:29462851-29463004	K562	blood:	n/a	n/a
38	MYC	chr20:29462921-29462945	K562	blood:	n/a	n/a
39	MYC	chr20:29507701-29507995	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr20:29446977-29447390	A549	lung:	n/a	n/a
41	POLR2A	chr20:29461036-29461119	A549	lung:	n/a	n/a
42	POLR2A	chr20:29462872-29463190	K562	blood:	n/a	n/a
43	POLR2A	chr20:29462898-29463168	K562	blood:	n/a	n/a
44	POLR2A	chr20:29456744-29456792	A549	lung:	n/a	n/a
45	POLR2A	chr20:29470287-29470359	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr20:29460709-29460779	ProgFib	skin:	n/a	n/a
47	POLR2A	chr20:29462911-29463194	K562	blood:	n/a	n/a
48	POLR2A	chr20:29462877-29463092	K562	blood:	n/a	n/a
49	POU2F2	chr20:29447206-29447502	GM12878	blood:	n/a	n/a
50	POU2F2	chr20:29454576-29454854	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:29447179..29448698-chr9:130802407..130804996,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DEFB116-8	chr20:29480007-29480099	NONHSAT079262
2	lnc-DEFB116-8	chr20:29480482-29480644	NONHSAT079262
3	lnc-DEFB116-8	chr20:29472900-29473142	NONHSAT079262

No data

Variant related genes	Relation type
ENSG00000204555	TF binding region

Extended variants
information (count: 611 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200915533	chr20:29446815-29446816	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs79433867	chr20:29446834-29446835	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs10451729	chr20:29446837-29446838	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs540862790	chr20:29446865-29446866	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs563803134	chr20:29446871-29446872	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs79314624	chr20:29446877-29446878	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs577688530	chr20:29446878-29446879	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs6119147	chr20:29446881-29446882	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs199684940	chr20:29446882-29446883	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs193122035	chr20:29446885-29446886	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs4640461	chr20:29446896-29446897	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs35219177	chr20:29446897-29446898	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs563304378	chr20:29446914-29446915	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs74749972	chr20:29446926-29446927	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs6057431	chr20:29446953-29446954	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs4479498	chr20:29446954-29446955	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs527869722	chr20:29446963-29446964	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs4283493	chr20:29446970-29446971	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs4355185	chr20:29446973-29446974	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs77354182	chr20:29446984-29446985	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs570812775	chr20:29447004-29447005	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs201197591	chr20:29447028-29447029	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs202124906	chr20:29447059-29447060	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs62197739	chr20:29447067-29447068	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs77607985	chr20:29447069-29447070	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs371682322	chr20:29447087-29447088	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs77734324	chr20:29447102-29447103	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs539933936	chr20:29447154-29447155	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs10446051	chr20:29447156-29447157	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs6141221	chr20:29447164-29447165	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs550050346	chr20:29447169-29447170	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs6057433	chr20:29447190-29447191	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs79532285	chr20:29447192-29447193	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs75734382	chr20:29447202-29447203	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs4010653	chr20:29447218-29447219	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs77341134	chr20:29447248-29447249	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs75101595	chr20:29447254-29447255	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs112303178	chr20:29447259-29447260	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs78407114	chr20:29447264-29447265	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs578060403	chr20:29447278-29447279	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs570029740	chr20:29447324-29447325	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs113646672	chr20:29447326-29447327	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs112785646	chr20:29447350-29447351	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs4010652	chr20:29447359-29447360	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs28460003	chr20:29447375-29447376	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs535484246	chr20:29447384-29447385	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs555228819	chr20:29447385-29447386	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs200589604	chr20:29447387-29447388	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs565653608	chr20:29447396-29447397	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs575802480	chr20:29447399-29447400	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	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	22522925	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Amyotrophic lateral sclerosis	20688871	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:29446800-29447600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr20:29459200-29461200	Enhancers	Dnd41	blood
3	chr20:29463000-29463800	Active TSS	K562	blood
4	chr20:29468800-29470400	Enhancers	Dnd41	blood
5	chr20:29468800-29470600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr20:29476400-29477200	Enhancers	Dnd41	blood
7	chr20:29476600-29477000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr20:29507600-29509400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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