Variant report

Variant	esv3425300
Chromosome Location	chr20:53600247-53734239
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:653)
CpG islands
(count:0)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:653 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr20:53719783-53720265	K562	blood:	n/a	n/a
2	ARID3A	chr20:53710790-53711203	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	chr20:53710659-53711561	K562	blood:	n/a	n/a
6	BACH1	chr20:53706675-53706744	H1-hESC	embryonic stem cell:	n/a	n/a
7	BATF	chr20:53655310-53655524	GM12878	blood:	n/a	n/a
8	BATF	chr20:53734092-53734400	GM12878	blood:	n/a	n/a
9	BCL11A	chr20:53734037-53734325	GM12878	blood:	n/a	n/a
10	BCL11A	chr20:53600254-53600554	GM12878	blood:	n/a	n/a
11	BCL11A	chr20:53669973-53670244	GM12878	blood:	n/a	n/a
12	BCL11A	chr20:53691308-53691570	GM12878	blood:	n/a	n/a
13	BHLHE40	chr20:53719690-53720106	K562	blood:	n/a	n/a
14	BHLHE40	chr20:53669921-53670101	GM12878	blood:	n/a	n/a
15	BHLHE40	chr20:53600200-53600670	GM12878	blood:	n/a	n/a
16	BHLHE40	chr20:53734152-53734335	GM12878	blood:	n/a	n/a
17	BHLHE40	chr20:53710712-53711631	K562	blood:	n/a	n/a
18	BHLHE40	chr20:53612302-53612352	GM12878	blood:	n/a	n/a
19	BHLHE40	chr20:53655390-53655397	GM12878	blood:	n/a	n/a
20	BRCA1	chr20:53626795-53626807	HepG2	liver:	n/a	n/a
21	CBX3	chr20:53710745-53711427	K562	blood:	n/a	n/a
22	CBX3	chr20:53719821-53720214	K562	blood:	n/a	n/a
23	CBX3	chr20:53719365-53720226	K562	blood:	n/a	n/a
24	CBX3	chr20:53721874-53722229	K562	blood:	n/a	n/a
25	CCNT2	chr20:53719801-53720169	K562	blood:	n/a	n/a
26	CCNT2	chr20:53710868-53711125	K562	blood:	n/a	n/a
27	CEBPB	chr20:53634421-53634459	K562	blood:	n/a	n/a
28	CEBPB	chr20:53682929-53683130	A549	lung:	n/a	chr20:53683026-53683037
29	CEBPB	chr20:53635257-53635348	H1-hESC	embryonic stem cell:	n/a	chr20:53635293-53635304
30	CEBPB	chr20:53715040-53715255	HepG2	liver:	n/a	chr20:53715139-53715150
31	CEBPB	chr20:53682898-53683198	HepG2	liver:	n/a	chr20:53683026-53683037
32	CEBPB	chr20:53719809-53720135	K562	blood:	n/a	n/a
33	CEBPB	chr20:53655760-53655786	HepG2	liver:	n/a	chr20:53655762-53655773 chr20:53655764-53655775 chr20:53655762-53655775 chr20:53655762-53655775
34	CEBPB	chr20:53635138-53635469	HepG2	liver:	n/a	chr20:53635293-53635304
35	CEBPB	chr20:53724486-53724755	K562	blood:	n/a	n/a
36	CEBPB	chr20:53634392-53634639	HepG2	liver:	n/a	chr20:53634468-53634479
37	CEBPB	chr20:53655726-53655884	K562	blood:	n/a	chr20:53655762-53655773 chr20:53655764-53655775 chr20:53655762-53655775 chr20:53655762-53655775
38	CEBPB	chr20:53635138-53635433	IMR90	lung:	n/a	chr20:53635293-53635304
39	CEBPB	chr20:53662465-53662696	HepG2	liver:	n/a	n/a
40	CEBPD	chr20:53719707-53720194	K562	blood:	n/a	n/a
41	CEBPD	chr20:53719775-53720160	K562	blood:	n/a	n/a
42	CHD1	chr20:53620900-53621098	GM12878	blood:	n/a	n/a
43	CHD1	chr20:53622132-53622232	H1-hESC	embryonic stem cell:	n/a	n/a
44	CHD2	chr20:53669842-53670158	GM12878	blood:	n/a	n/a
45	CHD2	chr20:53631463-53631508	GM12878	blood:	n/a	n/a
46	CHD2	chr20:53734127-53734327	GM12878	blood:	n/a	n/a
47	CHD2	chr20:53667957-53668172	GM12878	blood:	n/a	n/a
48	CHD2	chr20:53719868-53720244	K562	blood:	n/a	n/a
49	CHD2	chr20:53703117-53703125	GM12878	blood:	n/a	n/a
50	CHD2	chr20:53710949-53711160	K562	blood:	n/a	n/a

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:52743807..52746345-chr20:53641652..53644045,2	MCF-7	breast:
2	chr20:53717530..53719829-chr20:53736291..53739092,2	K562	blood:
3	chr20:53651843..53653393-chr20:53661798..53664241,2	MCF-7	breast:
4	chr20:53688590..53691099-chr20:53696161..53698159,2	K562	blood:
5	chr20:53608695..53610602-chr20:53616867..53619375,2	MCF-7	breast:
6	chr20:53596926..53599724-chr20:53601086..53602936,2	K562	blood:
7	chr20:53695517..53697108-chr20:53730134..53732503,2	K562	blood:
8	chr20:53614528..53617009-chr20:53626053..53628395,2	MCF-7	breast:
9	chr12:64307953..64308923-chr20:53697509..53698310,2	MCF-7	breast:
10	chr20:53684096..53685982-chr20:53687886..53689554,2	K562	blood:
11	chr20:53711130..53713128-chr20:53714743..53717339,2	K562	blood:
12	chr20:53727228..53729722-chr20:53733807..53735939,2	K562	blood:
13	chr20:53674093..53675016-chr20:54745831..54746499,3	MCF-7	breast:
14	chr20:53727228..53729722-chr20:53733807..53735939,2	K562	blood:
15	chr20:53688590..53691099-chr20:53696161..53698159,2	K562	blood:
16	chr20:53711130..53713128-chr20:53714743..53717339,2	K562	blood:
17	chr20:53651843..53653393-chr20:53661798..53664241,2	MCF-7	breast:
18	chr20:53614528..53617009-chr20:53626053..53628395,2	MCF-7	breast:
19	chr20:53684096..53685982-chr20:53687886..53689554,2	K562	blood:
20	chr20:53608695..53610602-chr20:53616867..53619375,2	MCF-7	breast:
21	chr20:53684051..53686087-chr20:53687886..53691101,4	K562	blood:
22	chr20:53670890..53672776-chr20:53674209..53675756,2	K562	blood:
23	chr20:53684051..53686087-chr20:53687886..53691101,4	K562	blood:
24	chr20:53670890..53672776-chr20:53674209..53675756,2	K562	blood:
25	chr20:53695517..53697108-chr20:53730134..53732503,2	K562	blood:

No data

Variant related genes	Relation type
RPL12P4	TF binding region

Extended variants
information (count: 2728 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:2728 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546250923	chr20:53600271-53600272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144625226	chr20:53600293-53600294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576542393	chr20:53600294-53600295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373469643	chr20:53600337-53600338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545843349	chr20:53600349-53600350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542063010	chr20:53600356-53600357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562317312	chr20:53600382-53600383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111994018	chr20:53600393-53600394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527979801	chr20:53600394-53600395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559718578	chr20:53600418-53600419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192419239	chr20:53600438-53600439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564046061	chr20:53600512-53600513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532811773	chr20:53600515-53600516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542516715	chr20:53600548-53600549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569659210	chr20:53600569-53600570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34395355	chr20:53600570-53600571	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs146438746	chr20:53600606-53600607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375453185	chr20:53600613-53600614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6092020	chr20:53600623-53600624	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs5014254	chr20:53600637-53600638	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs557653207	chr20:53600652-53600653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570480574	chr20:53600701-53600702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184965050	chr20:53600706-53600707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556576365	chr20:53600739-53600740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12106064	chr20:53600768-53600769	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs116219702	chr20:53600794-53600795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544850389	chr20:53600805-53600806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572704097	chr20:53600846-53600847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs117477920	chr20:53600907-53600908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188214619	chr20:53600910-53600911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563360057	chr20:53600943-53600944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs564785202	chr20:53600956-53600957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs201111073	chr20:53601008-53601009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374385293	chr20:53601010-53601011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532900701	chr20:53601016-53601017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs6098357	chr20:53601017-53601018	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs139808209	chr20:53601083-53601084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181009427	chr20:53601086-53601087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs548698093	chr20:53601109-53601110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565510447	chr20:53601126-53601127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs528287402	chr20:53601154-53601155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs8125449	chr20:53601156-53601157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs112611813	chr20:53601171-53601172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372164684	chr20:53601174-53601175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569355389	chr20:53601241-53601242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs159078	chr20:53601272-53601273	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs571458167	chr20:53601322-53601323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs114588236	chr20:53601412-53601413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs115373185	chr20:53601427-53601428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs115992106	chr20:53601494-53601495	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:53599600-53600800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr20:53599800-53600800	Weak transcription	Fetal Kidney	kidney
3	chr20:53600800-53601000	Enhancers	Fetal Kidney	kidney
4	chr20:53600800-53601600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr20:53600800-53602000	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr20:53607000-53607200	Enhancers	Brain Germinal Matrix	brain
7	chr20:53607200-53610600	Weak transcription	Brain Germinal Matrix	brain
8	chr20:53610600-53610800	Enhancers	Brain Germinal Matrix	brain
9	chr20:53610800-53611600	Weak transcription	Brain Germinal Matrix	brain
10	chr20:53611600-53612000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr20:53611600-53612200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr20:53611600-53612200	Enhancers	Brain Germinal Matrix	brain
13	chr20:53611600-53612800	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr20:53611600-53612800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr20:53611600-53613600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr20:53611800-53612600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr20:53611800-53612600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr20:53611800-53612600	Enhancers	NH-A	brain
19	chr20:53611800-53612800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr20:53611800-53612800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr20:53611800-53612800	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr20:53612000-53612800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr20:53612200-53612400	Flanking Active TSS	Brain Germinal Matrix	brain
24	chr20:53612200-53612800	Enhancers	H9 Cell Line	embryonic stem cell
25	chr20:53612400-53612600	Enhancers	Brain Germinal Matrix	brain
26	chr20:53612400-53612800	Enhancers	H1 Cell Line	embryonic stem cell
27	chr20:53612400-53612800	Enhancers	Brain Hippocampus Middle	brain
28	chr20:53612400-53612800	Enhancers	Fetal Brain Male	brain
29	chr20:53612600-53612800	Flanking Active TSS	Brain Germinal Matrix	brain
30	chr20:53612800-53614200	Enhancers	Brain Germinal Matrix	brain
31	chr20:53614200-53621200	Weak transcription	Brain Germinal Matrix	brain
32	chr20:53617200-53617600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr20:53620600-53621200	Enhancers	Adipose Nuclei	Adipose
34	chr20:53621000-53621400	Enhancers	Fetal Brain Female	brain
35	chr20:53621200-53621400	Enhancers	Brain Germinal Matrix	brain
36	chr20:53621400-53625200	Weak transcription	Brain Germinal Matrix	brain
37	chr20:53621400-53625400	Weak transcription	Fetal Brain Female	brain
38	chr20:53623200-53623800	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr20:53623400-53623800	Enhancers	H1 Cell Line	embryonic stem cell
40	chr20:53624400-53624600	Enhancers	Fetal Brain Male	brain
41	chr20:53624600-53625800	Weak transcription	Fetal Brain Male	brain
42	chr20:53625200-53627000	Enhancers	Brain Germinal Matrix	brain
43	chr20:53625400-53626800	Enhancers	Fetal Brain Female	brain
44	chr20:53625800-53628400	Enhancers	Fetal Brain Male	brain
45	chr20:53648200-53649000	Enhancers	Brain Germinal Matrix	brain
46	chr20:53668000-53668400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr20:53668400-53669800	Enhancers	Brain Germinal Matrix	brain
48	chr20:53668800-53670400	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr20:53669400-53669600	Enhancers	Fetal Brain Male	brain
50	chr20:53670600-53671600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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