Variant report

Variant	nsv586284
Chromosome Location	chr20:53647872-53843837
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:761)
CpG islands
(count:0)
Chromatin interactive
region (count:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:761 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr20:53710790-53711203	K562	blood:	n/a	n/a
2	ARID3A	chr20:53719783-53720265	K562	blood:	n/a	n/a
3	ATF1	chr20:53719680-53720104	K562	blood:	n/a	n/a
4	ATF1	chr20:53710893-53711142	K562	blood:	n/a	n/a
5	BACH1	chr20:53706675-53706744	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr20:53710659-53711561	K562	blood:	n/a	n/a
7	BACH1	chr20:53783208-53783532	H1-hESC	embryonic stem cell:	n/a	n/a
8	BATF	chr20:53734092-53734400	GM12878	blood:	n/a	n/a
9	BATF	chr20:53655310-53655524	GM12878	blood:	n/a	n/a
10	BCL11A	chr20:53691308-53691570	GM12878	blood:	n/a	n/a
11	BCL11A	chr20:53734037-53734325	GM12878	blood:	n/a	n/a
12	BCL11A	chr20:53669973-53670244	GM12878	blood:	n/a	n/a
13	BCL3	chr20:53783368-53783583	GM12878	blood:	n/a	n/a
14	BHLHE40	chr20:53719690-53720106	K562	blood:	n/a	n/a
15	BHLHE40	chr20:53710712-53711631	K562	blood:	n/a	n/a
16	BHLHE40	chr20:53759521-53759730	GM12878	blood:	n/a	n/a
17	BHLHE40	chr20:53669921-53670101	GM12878	blood:	n/a	n/a
18	BHLHE40	chr20:53655390-53655397	GM12878	blood:	n/a	n/a
19	BHLHE40	chr20:53734152-53734335	GM12878	blood:	n/a	n/a
20	CBX3	chr20:53719821-53720214	K562	blood:	n/a	n/a
21	CBX3	chr20:53721874-53722229	K562	blood:	n/a	n/a
22	CBX3	chr20:53719365-53720226	K562	blood:	n/a	n/a
23	CBX3	chr20:53710745-53711427	K562	blood:	n/a	n/a
24	CCNT2	chr20:53719801-53720169	K562	blood:	n/a	n/a
25	CCNT2	chr20:53808254-53808450	K562	blood:	n/a	n/a
26	CCNT2	chr20:53710868-53711125	K562	blood:	n/a	n/a
27	CEBPB	chr20:53749449-53749641	HepG2	liver:	n/a	n/a
28	CEBPB	chr20:53773470-53773680	HepG2	liver:	n/a	chr20:53773537-53773548
29	CEBPB	chr20:53790251-53790757	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr20:53715040-53715255	HepG2	liver:	n/a	chr20:53715139-53715150
31	CEBPB	chr20:53830217-53830487	H1-hESC	embryonic stem cell:	n/a	n/a
32	CEBPB	chr20:53682898-53683198	HepG2	liver:	n/a	chr20:53683026-53683037
33	CEBPB	chr20:53719809-53720135	K562	blood:	n/a	n/a
34	CEBPB	chr20:53789265-53789401	HepG2	liver:	n/a	chr20:53789335-53789346
35	CEBPB	chr20:53789150-53789467	K562	blood:	n/a	chr20:53789335-53789346
36	CEBPB	chr20:53830257-53830544	MCF-7	breast:	n/a	n/a
37	CEBPB	chr20:53830215-53830578	HepG2	liver:	n/a	n/a
38	CEBPB	chr20:53655760-53655786	HepG2	liver:	n/a	chr20:53655762-53655773 chr20:53655764-53655775 chr20:53655762-53655775 chr20:53655762-53655775
39	CEBPB	chr20:53830246-53830571	K562	blood:	n/a	n/a
40	CEBPB	chr20:53682929-53683130	A549	lung:	n/a	chr20:53683026-53683037
41	CEBPB	chr20:53655726-53655884	K562	blood:	n/a	chr20:53655762-53655773 chr20:53655764-53655775 chr20:53655762-53655775 chr20:53655762-53655775
42	CEBPB	chr20:53822092-53822609	Hela-S3	cervix:	n/a	n/a
43	CEBPB	chr20:53830220-53830554	IMR90	lung:	n/a	n/a
44	CEBPB	chr20:53788858-53789736	Hela-S3	cervix:	n/a	chr20:53789335-53789346
45	CEBPB	chr20:53789236-53789412	H1-hESC	embryonic stem cell:	n/a	chr20:53789335-53789346
46	CEBPB	chr20:53830219-53830560	A549	lung:	n/a	n/a
47	CEBPB	chr20:53662465-53662696	HepG2	liver:	n/a	n/a
48	CEBPB	chr20:53789196-53789458	A549	lung:	n/a	chr20:53789335-53789346
49	CEBPB	chr20:53724486-53724755	K562	blood:	n/a	n/a
50	CEBPB	chr20:53788953-53789525	HepG2	liver:	n/a	chr20:53789335-53789346

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:53711130..53713128-chr20:53714743..53717339,2	K562	blood:
2	chr20:53717530..53719829-chr20:53736291..53739092,2	K562	blood:
3	chr20:53727228..53729722-chr20:53733807..53735939,2	K562	blood:
4	chr20:53674093..53675016-chr20:54745831..54746499,3	MCF-7	breast:
5	chr20:53684096..53685982-chr20:53687886..53689554,2	K562	blood:
6	chr20:53739742..53743941-chr20:53746682..53749763,4	K562	blood:
7	chr20:53727228..53729722-chr20:53733807..53735939,2	K562	blood:
8	chr20:53695517..53697108-chr20:53730134..53732503,2	K562	blood:
9	chr20:53711130..53713128-chr20:53714743..53717339,2	K562	blood:
10	chr20:53688590..53691099-chr20:53696161..53698159,2	K562	blood:
11	chr20:53651843..53653393-chr20:53661798..53664241,2	MCF-7	breast:
12	chr12:64307953..64308923-chr20:53697509..53698310,2	MCF-7	breast:
13	chr20:53695517..53697108-chr20:53730134..53732503,2	K562	blood:
14	chr20:53684096..53685982-chr20:53687886..53689554,2	K562	blood:
15	chr20:53651843..53653393-chr20:53661798..53664241,2	MCF-7	breast:
16	chr20:53684051..53686087-chr20:53687886..53691101,4	K562	blood:
17	chr20:53768049..53771026-chr20:53775129..53777467,2	MCF-7	breast:
18	chr20:53688590..53691099-chr20:53696161..53698159,2	K562	blood:
19	chr20:53739742..53743941-chr20:53746682..53749763,4	K562	blood:
20	chr20:53670890..53672776-chr20:53674209..53675756,2	K562	blood:
21	chr20:53740790..53743941-chr20:53746682..53748710,3	K562	blood:
22	chr20:53670890..53672776-chr20:53674209..53675756,2	K562	blood:
23	chr20:53717530..53719829-chr20:53736291..53739092,2	K562	blood:
24	chr20:53768049..53771026-chr20:53775129..53777467,2	MCF-7	breast:
25	chr2:13272827..13273600-chr20:53777323..53778067,2	MCF-7	breast:
26	chr20:53684051..53686087-chr20:53687886..53691101,4	K562	blood:
27	chr20:53740790..53743941-chr20:53746682..53748710,3	K562	blood:

No data

Variant related genes	Relation type
RPL12P4	TF binding region

Extended variants
information (count: 4455 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:4455 , 50 per page) page: 1 2 3 4 5 6 7 ... 90

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116587689	chr20:53648206-53648207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75773955	chr20:53648214-53648215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576742564	chr20:53648284-53648285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373855940	chr20:53648289-53648290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545045386	chr20:53648298-53648299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529285385	chr20:53648329-53648330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368967065	chr20:53648332-53648333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565283197	chr20:53648343-53648344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73914662	chr20:53648363-53648364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138697466	chr20:53648437-53648438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116371825	chr20:53648475-53648476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528394035	chr20:53648611-53648612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149617218	chr20:53648627-53648628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547232179	chr20:53648667-53648668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144359116	chr20:53648690-53648691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560741744	chr20:53648691-53648692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532860104	chr20:53648781-53648782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538859257	chr20:53648787-53648788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551848950	chr20:53648812-53648813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568824154	chr20:53648859-53648860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190161730	chr20:53648860-53648861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs62229919	chr20:53648907-53648908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs159129	chr20:53648928-53648929	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs159130	chr20:53648965-53648966	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs193000426	chr20:53648983-53648984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561870872	chr20:53668020-53668021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs527835709	chr20:53668091-53668092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs11352027	chr20:53668095-53668096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs183284823	chr20:53668101-53668102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113395934	chr20:53668109-53668110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533674198	chr20:53668110-53668111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186614216	chr20:53668148-53668149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569618872	chr20:53668157-53668158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs77530654	chr20:53668188-53668189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555453570	chr20:53668204-53668205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs6127384	chr20:53668223-53668224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs75773603	chr20:53668226-53668227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs6127385	chr20:53668227-53668228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534750471	chr20:53668230-53668231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs377000186	chr20:53668255-53668256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs144822663	chr20:53668260-53668261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543685587	chr20:53668295-53668296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs76413669	chr20:53668304-53668305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs158335	chr20:53668326-53668327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs76165641	chr20:53668354-53668355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561851685	chr20:53668371-53668372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs138666563	chr20:53668409-53668410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs78082486	chr20:53668416-53668417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544716259	chr20:53668453-53668454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191403854	chr20:53668523-53668524	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	21693616	CNVD
Acute myeloid leukemia	16864856	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
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
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Oral cancer	21386901	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myelodysplastic syndrome	21251322	CNVD
Ductal carcinoma	22052326	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Gastric cancer	20585902	CNVD
Ductal carcinoma	18381933	CNVD
Cancer	21129771	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	20864512	CNVD
Ovarian cancer	22174824	CNVD
Lung cancer	16740712	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16620391	CNVD
Okamoto syndrome	17623483	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Cervical cancer	16585170	CNVD
Ovarian cancer	20844748	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20459607	CNVD
Gastric cancer	18160780	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	17142309	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:299 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:53648200-53649000	Enhancers	Brain Germinal Matrix	brain
2	chr20:53668000-53668400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
3	chr20:53668400-53669800	Enhancers	Brain Germinal Matrix	brain
4	chr20:53668800-53670400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr20:53669400-53669600	Enhancers	Fetal Brain Male	brain
6	chr20:53670600-53671600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr20:53670600-53671600	Enhancers	HMEC	breast
8	chr20:53670800-53671600	Enhancers	NH-A	brain
9	chr20:53670800-53671800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr20:53670800-53671800	Enhancers	NHEK	skin
11	chr20:53670800-53672000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr20:53671200-53671800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr20:53671200-53672000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr20:53681000-53681400	Active TSS	Fetal Heart	heart
15	chr20:53683400-53684200	Enhancers	Osteobl	bone
16	chr20:53683800-53684200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr20:53683800-53684400	Enhancers	NH-A	brain
18	chr20:53690800-53699400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr20:53706600-53707000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr20:53706600-53707000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr20:53706600-53707200	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr20:53710600-53710800	Enhancers	K562	blood
23	chr20:53710800-53711600	Flanking Active TSS	K562	blood
24	chr20:53710800-53713800	Enhancers	Fetal Heart	heart
25	chr20:53711000-53711400	Enhancers	Right Atrium	heart
26	chr20:53711000-53711600	Enhancers	Fetal Muscle Leg	muscle
27	chr20:53711000-53711600	Active TSS	A549	lung
28	chr20:53711000-53711800	Enhancers	Ovary	ovary
29	chr20:53711200-53711600	Enhancers	Fetal Muscle Trunk	muscle
30	chr20:53711200-53711800	Enhancers	Brain Germinal Matrix	brain
31	chr20:53711400-53711800	Enhancers	Fetal Kidney	kidney
32	chr20:53711600-53712600	Weak transcription	Fetal Muscle Leg	muscle
33	chr20:53711600-53712800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr20:53711600-53713200	Enhancers	K562	blood
35	chr20:53711800-53712200	Weak transcription	Brain Germinal Matrix	brain
36	chr20:53711800-53712200	Weak transcription	Fetal Kidney	kidney
37	chr20:53711800-53712200	Weak transcription	Ovary	ovary
38	chr20:53712000-53713200	Enhancers	Brain Hippocampus Middle	brain
39	chr20:53712200-53713000	Enhancers	Fetal Kidney	kidney
40	chr20:53712200-53713200	Enhancers	Ovary	ovary
41	chr20:53712200-53713400	Enhancers	Brain Germinal Matrix	brain
42	chr20:53712400-53712600	Enhancers	Brain Angular Gyrus	brain
43	chr20:53712400-53712800	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr20:53712400-53713000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr20:53712400-53713000	Enhancers	Right Ventricle	heart
46	chr20:53712400-53713200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr20:53712400-53713200	Enhancers	Fetal Stomach	stomach
48	chr20:53712400-53713400	Enhancers	Brain Cingulate Gyrus	brain
49	chr20:53712600-53713600	Enhancers	Fetal Muscle Leg	muscle
50	chr20:53712800-53713200	Enhancers	Pancreas	Pancrea

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