Variant report

Variant	esv2758789
Chromosome Location	chr20:23029404-23179604
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3916)
CpG islands
(count:1894)
Chromatin interactive
region (count:232)
LncRNA
region (count:57)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3916 , 50 per page) page: 1 2 3 4 5 6 7 ... 79

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr20:23132989-23133541	K562	blood:	n/a	n/a
2	ARID3A	chr20:23068617-23068765	K562	blood:	n/a	n/a
3	ARID3A	chr20:23136772-23137288	K562	blood:	n/a	n/a
4	ARID3A	chr20:23134572-23134923	K562	blood:	n/a	n/a
5	ARID3A	chr20:23112529-23114612	K562	blood:	n/a	n/a
6	ARID3A	chr20:23132967-23133286	HepG2	liver:	n/a	n/a
7	ARID3A	chr20:23119599-23120098	K562	blood:	n/a	n/a
8	ARID3A	chr20:23123649-23124122	K562	blood:	n/a	n/a
9	ARID3A	chr20:23123846-23124112	HepG2	liver:	n/a	n/a
10	ARID3A	chr20:23128078-23129295	HepG2	liver:	n/a	n/a
11	ARID3A	chr20:23096366-23096654	K562	blood:	n/a	n/a
12	ARID3A	chr20:23126727-23127081	K562	blood:	n/a	chr20:23126763-23126779 chr20:23126762-23126778
13	ARID3A	chr20:23174714-23174842	K562	blood:	n/a	n/a
14	ARID3A	chr20:23116319-23116530	HepG2	liver:	n/a	n/a
15	ARID3A	chr20:23127943-23128995	K562	blood:	n/a	n/a
16	ARID3A	chr20:23136788-23137110	HepG2	liver:	n/a	n/a
17	ARID3A	chr20:23072726-23073528	K562	blood:	n/a	n/a
18	ATF1	chr20:23112449-23114574	K562	blood:	n/a	n/a
19	ATF1	chr20:23135836-23136097	K562	blood:	n/a	n/a
20	ATF1	chr20:23128264-23128842	K562	blood:	n/a	n/a
21	ATF1	chr20:23136677-23137183	K562	blood:	n/a	n/a
22	ATF1	chr20:23123719-23124053	K562	blood:	n/a	n/a
23	ATF1	chr20:23139940-23140208	K562	blood:	n/a	n/a
24	ATF1	chr20:23072830-23073360	K562	blood:	n/a	n/a
25	ATF1	chr20:23134619-23134935	K562	blood:	n/a	n/a
26	ATF1	chr20:23132970-23133423	K562	blood:	n/a	n/a
27	ATF1	chr20:23174598-23174987	K562	blood:	n/a	n/a
28	ATF1	chr20:23102230-23102429	K562	blood:	n/a	n/a
29	ATF2	chr20:23128323-23129439	GM12878	blood:	n/a	n/a
30	ATF2	chr20:23122674-23123259	GM12878	blood:	n/a	n/a
31	ATF2	chr20:23096225-23096826	GM12878	blood:	n/a	n/a
32	ATF2	chr20:23098732-23099186	GM12878	blood:	n/a	n/a
33	ATF2	chr20:23128244-23129405	GM12878	blood:	n/a	n/a
34	ATF2	chr20:23096102-23096897	GM12878	blood:	n/a	n/a
35	ATF2	chr20:23106190-23106668	GM12878	blood:	n/a	n/a
36	ATF3	chr20:23128525-23128770	K562	blood:	n/a	n/a
37	ATF3	chr20:23030392-23030964	A549	lung:	n/a	n/a
38	ATF3	chr20:23136815-23137056	K562	blood:	n/a	n/a
39	ATF3	chr20:23030367-23030822	A549	lung:	n/a	n/a
40	ATF3	chr20:23113543-23113965	K562	blood:	n/a	n/a
41	ATF3	chr20:23133066-23133289	K562	blood:	n/a	n/a
42	ATF3	chr20:23123680-23123987	K562	blood:	n/a	n/a
43	ATF3	chr20:23132947-23133430	K562	blood:	n/a	n/a
44	ATF3	chr20:23128382-23128888	K562	blood:	n/a	n/a
45	ATF3	chr20:23113084-23113475	K562	blood:	n/a	n/a
46	ATF3	chr20:23136778-23137153	K562	blood:	n/a	n/a
47	BACH1	chr20:23029148-23029693	H1-hESC	embryonic stem cell:	n/a	n/a
48	BACH1	chr20:23118551-23118558	K562	blood:	n/a	n/a
49	BACH1	chr20:23113424-23113772	K562	blood:	n/a	n/a
50	BACH1	chr20:23117441-23117827	K562	blood:	n/a	n/a

(count:1894 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:23067771-23067821	PFSK-1	brain:	n/a
2	chr20:23067159-23067209	HPAEpiC	pulmonary alveolar:	n/a
3	chr20:23063119-23063169	AG04450	lung:	fetal
4	chr20:23067771-23067821	PFSK-1	brain:	n/a
5	chr20:23067159-23067209	HPAEpiC	pulmonary alveolar:	n/a
6	chr20:23063119-23063169	AG04450	lung:	fetal
7	chr20:23031563-23031613	SK-N-SH_RA	brain:	n/a
8	chr20:23066999-23067049	MCF-7	breast:	n/a
9	chr20:23030343-23030393	HCF	heart:	n/a
10	chr20:23030533-23030583	HCPEpiC	choroid plexus:	n/a
11	chr20:23062796-23062846	MCF-7	breast:	n/a
12	chr20:23032166-23032216	PrEC	prostate:	n/a
13	chr20:23063165-23063215	Hepatocyte	liver:	n/a
14	chr20:23066944-23066994	GM19239	blood:	n/a
15	chr20:23123952-23124002	LNCaP	prostate:	n/a
16	chr20:23029640-23029690	ECC-1	luminal epithelium:	n/a
17	chr20:23066947-23066997	HRPEpiC	eye:	n/a
18	chr20:23064608-23064658	SK-N-SH_RA	brain:	n/a
19	chr20:23031563-23031613	HCF	heart:	n/a
20	chr20:23034503-23034553	SAEC	small airway:	n/a
21	chr20:23031563-23031613	H1-hESC	embryonic stem cell:	embryo
22	chr20:23029806-23029856	NHDF-neo	bronchial:	n/a
23	chr20:23030446-23030496	HIPEpiC	eye:	n/a
24	chr20:23032166-23032216	PFSK-1	brain:	n/a
25	chr20:23067033-23067083	PFSK-1	brain:	n/a
26	chr20:23067156-23067206	LNCaP	prostate:	n/a
27	chr20:23067088-23067138	SAEC	small airway:	n/a
28	chr20:23067159-23067209	RPTEC	kidney:	n/a
29	chr20:23031678-23031728	HCF	heart:	n/a
30	chr20:23123952-23124002	A549	lung:	n/a
31	chr20:23067088-23067138	Jurkat	blood:	n/a
32	chr20:23067691-23067741	SK-N-SH_RA	brain:	n/a
33	chr20:23067752-23067802	ProgFib	skin:	n/a
34	chr20:23066999-23067049	NHDF-neo	bronchial:	n/a
35	chr20:23067156-23067206	GM12892	blood:	n/a
36	chr20:23066999-23067049	SK-N-SH	brain:	n/a
37	chr20:23030446-23030496	GM06990	blood:	n/a
38	chr20:23031678-23031728	NT2-D1	testis:	n/a
39	chr20:23067159-23067209	HEK293	kidney:	embryo
40	chr20:23033805-23033855	SKMC	muscle:	n/a
41	chr20:23067033-23067083	NB4	blood:	n/a
42	chr20:23067159-23067209	GM12878	blood:	n/a
43	chr20:23067033-23067083	AG09319	gingival:	n/a
44	chr20:23030442-23030492	HNPCEpiC	eye:	n/a
45	chr20:23030434-23030484	HCT-116	colon:	n/a
46	chr20:23066999-23067049	MCF10A-Er-Src	breast:	n/a
47	chr20:23030446-23030496	HPAEpiC	pulmonary alveolar:	n/a
48	chr20:23031563-23031613	SKMC	muscle:	n/a
49	chr20:23067691-23067741	HL-60	blood:	n/a
50	chr20:23067691-23067741	Hepatocyte	liver:	n/a

(count:232 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr20:23071726..23074715-chr20:23114683..23116931,2	K562	blood:
2	chr20:23050588..23053168-chr20:23056327..23058098,2	K562	blood:
3	chr20:23106418..23109174-chr20:23126935..23129451,2	K562	blood:
4	chr20:23037834..23043617-chr20:23045683..23049258,6	MCF-7	breast:
5	chr20:23014536..23017577-chr20:23027797..23030031,3	MCF-7	breast:
6	chr20:23073207..23075435-chr20:23128612..23131372,2	K562	blood:
7	chr20:23041745..23043295-chr20:23045027..23046542,2	K562	blood:
8	chr20:23030571..23033059-chr20:23188435..23191076,2	MCF-7	breast:
9	chr20:23135433..23136976-chr20:23166923..23169516,2	K562	blood:
10	chr20:23039939..23042121-chr20:23116423..23118513,2	K562	blood:
11	chr20:23031306..23034005-chr20:23046124..23048629,2	MCF-7	breast:
12	chr20:23037834..23043617-chr20:23045683..23049258,6	MCF-7	breast:
13	chr20:23145826..23148563-chr20:23157728..23159717,2	MCF-7	breast:
14	chr20:22391083..22392851-chr20:23127548..23129144,2	K562	blood:
15	chr20:23088338..23089890-chr20:23107180..23109300,2	MCF-7	breast:
16	chr20:23094897..23098917-chr20:23130908..23134771,6	K562	blood:
17	chr20:23073935..23077646-chr20:23127330..23130238,3	K562	blood:
18	chr20:23108883..23111876-chr20:23111933..23114373,2	MCF-7	breast:
19	chr20:23123944..23126735-chr20:23131086..23132834,2	MCF-7	breast:
20	chr20:23038571..23039568-chr20:23300787..23301400,2	MCF-7	breast:
21	chr20:23125309..23128497-chr20:23131083..23133976,3	MCF-7	breast:
22	chr20:23145826..23148563-chr20:23157728..23159717,2	MCF-7	breast:
23	chr20:23046496..23048382-chr20:23085571..23088058,2	MCF-7	breast:
24	chr20:23169059..23171573-chr20:23172797..23175263,2	K562	blood:
25	chr20:23173550..23175441-chr20:23179224..23181550,2	K562	blood:
26	chr20:23063289..23065517-chr20:23156709..23159666,2	K562	blood:
27	chr20:23046539..23049855-chr20:23055355..23058512,3	K562	blood:
28	chr20:23102523..23105175-chr20:23127807..23130561,3	K562	blood:
29	chr20:23064609..23066913-chr20:23084404..23086526,2	K562	blood:
30	chr20:23080110..23082822-chr20:23132025..23133564,2	K562	blood:
31	chr20:23131349..23133053-chr20:23183942..23185506,2	K562	blood:
32	chr20:23068148..23069652-chr20:23071851..23074336,2	K562	blood:
33	chr20:23092796..23095143-chr20:23110138..23112682,3	K562	blood:
34	chr20:23031208..23032750-chr20:23180279..23182634,2	MCF-7	breast:
35	chr20:23025358..23028275-chr20:23031819..23034490,2	K562	blood:
36	chr20:23173550..23175379-chr20:23179178..23180724,2	K562	blood:
37	chr20:23178876..23181209-chr20:23183336..23185495,2	K562	blood:
38	chr20:23126510..23128987-chr20:23134466..23137305,2	MCF-7	breast:
39	chr20:23036142..23038357-chr20:23040495..23043468,2	K562	blood:
40	chr20:23046539..23049855-chr20:23055355..23058512,3	K562	blood:
41	chr20:23092456..23098917-chr20:23127069..23136117,14	K562	blood:
42	chr20:23071726..23074715-chr20:23114683..23116931,2	K562	blood:
43	chr20:23041795..23043675-chr20:23045042..23047650,2	K562	blood:
44	chr20:23031273..23031851-chr20:23181325..23181849,2	MCF-7	breast:
45	chr20:23033213..23035257-chr20:23037224..23038817,2	MCF-7	breast:
46	chr20:23173550..23175379-chr20:23179178..23180724,2	K562	blood:
47	chr20:23029838..23032400-chr20:23167323..23168960,2	MCF-7	breast:
48	chr20:23073935..23077646-chr20:23127330..23130238,3	K562	blood:
49	chr20:23044407..23046627-chr20:23047753..23050587,2	K562	blood:
50	chr20:23093195..23094992-chr20:23095074..23097228,2	MCF-7	breast:

(count:57 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SSTR4-2	chr20:23170420-23170904	NONHSAT079045
2	lnc-CD93-2	chr20:23105705-23107175	XLOC_013689
3	lnc-SSTR4-2	chr20:23160769-23160884	XLOC_013489
4	lnc-CD93-4	chr20:23061136-23061258	NONHSAT079033
5	lnc-CD93-4	chr20:23057602-23057802	NONHSAT079033
6	lnc-CD93-2	chr20:23109602-23109802	XLOC_013689
7	lnc-SSTR4-2	chr20:23170420-23170935	XLOC_013489
8	lnc-SSTR4-8	chr20:23030380-23035547	NONHSAT079029
9	lnc-CD93-2	chr20:23105705-23107175	ENSG00000233746
10	lnc-CD93-4	chr20:23053705-23055175	refGeneNc_4391_NR_034149
11	lnc-CD93-3	chr20:23168344-23169272	XLOC_013690
12	lnc-SSTR4-12	chr20:23118420-23118935	l_2091_chr20:23108768-23110176_testes
13	lnc-SSTR4-2	chr20:23167850-23168277	XLOC_013489
14	lnc-SSTR4-2	chr20:23167850-23168277	XLOC_013489
15	lnc-SSTR4-2	chr20:23160769-23160845	XLOC_013489
16	lnc-CD93-2	chr20:23109266-23109366	ENSG00000233746
17	lnc-CD93-4	chr20:23053705-23055175	NONHSAT079033
18	lnc-SSTR4-2	chr20:23168699-23168795	NONHSAT079045
19	lnc-CD93-2	chr20:23109266-23109366	XLOC_013689
20	lnc-SSTR4-2	chr20:23170420-23170907	XLOC_013489
21	lnc-SSTR4-12	chr20:23115850-23116277	l_2091_chr20:23108768-23110176_testes
22	lnc-SSTR4-2	chr20:23167850-23168277	XLOC_013489
23	lnc-CD93-1	chr20:23046042-23046166	XLOC_013688
24	lnc-SSTR4-2	chr20:23167037-23167187	XLOC_013489
25	lnc-SSTR4-12	chr20:23109048-23110176	l_2091_chr20:23108768-23110176_testes
26	lnc-SSTR4-2	chr20:23167037-23167077	XLOC_013489
27	lnc-SSTR4-2	chr20:23167037-23167187	XLOC_013489
28	lnc-SSTR4-9	chr20:23052184-23053787	NONHSAT079031
29	lnc-CD93-5	chr20:23052184-23053359	NONHSAT079032
30	lnc-SSTR4-2	chr20:23168598-23170942	NONHSAT079044
31	lnc-SSTR4-12	chr20:23114592-23114950	l_2091_chr20:23108768-23110176_testes
32	lnc-SSTR4-2	chr20:23161692-23161853	XLOC_013489
33	lnc-SSTR4-12	chr20:23115037-23115187	l_2091_chr20:23108768-23110176_testes
34	lnc-CD93-2	chr20:23113136-23113258	ENSG00000233746
35	lnc-CD93-4	chr20:23057266-23057366	NONHSAT079033
36	lnc-SSTR4-2	chr20:23170420-23170944	XLOC_013489
37	lnc-SSTR4-12	chr20:23118420-23118944	NONHSAT079036
38	lnc-SSTR4-12	chr20:23116598-23118942	ucscGeneNc_uc002wsw_1
39	lnc-SSTR4-2	chr20:23161048-23161430	XLOC_013489
40	lnc-CD93-4	chr20:23061136-23061273	refGeneNc_4391_NR_034149
41	lnc-SSTR4-2	chr20:23170420-23170935	XLOC_013489
42	lnc-SSTR4-2	chr20:23161048-23161165	XLOC_013489
43	lnc-SSTR4-13	chr20:23128723-23130576	NONHSAT079037
44	lnc-SSTR4-12	chr20:23108769-23108884	l_2091_chr20:23108768-23110176_testes
45	lnc-SSTR4-2	chr20:23160814-23160845	XLOC_013489
46	lnc-CD93-1	chr20:23051887-23052105	XLOC_013688
47	lnc-CD93-3	chr20:23169415-23169661	XLOC_013690
48	lnc-SSTR4-12	chr20:23116765-23116795	NONHSAT079036
49	lnc-CD93-2	chr20:23109602-23109802	ENSG00000233746
50	lnc-SSTR4-11	chr20:23076675-23076939	expReg_chr20_1552_+

No data

Variant related genes	Relation type
THBD	TF binding region
RNA5SP478	TF binding region
ENSG00000230387	TF binding region
CD93	TF binding region
ENSG00000256492	TF binding region
LINC00656	TF binding region
THBD	CpG island
RNA5SP478	CpG island
ENSG00000230387	CpG island
CD93	CpG island
ENSG00000256492	CpG island
LINC00656	CpG island
ENSG00000132671	chromatin interactions
ENSG00000269609	chromatin interactions
ENSG00000125812	chromatin interactions
ENSG00000201527	chromatin interactions
ENSG00000234832	chromatin interactions
ENSG00000178726	chromatin interactions
ENSG00000230387	chromatin interactions
ENSG00000105835	chromatin interactions
ENSG00000232645	chromatin interactions
ENSG00000125810	chromatin interactions
ENSG00000233746	chromatin interactions
ENSG00000234646	chromatin interactions
ENSG00000256492	chromatin interactions
ENSG00000132661	chromatin interactions
ENSG00000230492	chromatin interactions
FOXD1	miRNA target sites
FOXF2	miRNA target sites
DNAJC9	miRNA target sites
FOSL2	miRNA target sites
ZNF609	miRNA target sites
MLLT4	miRNA target sites
FOXC1	miRNA target sites
LPIN3	miRNA target sites
FILIP1L	miRNA target sites
BCL6	miRNA target sites
RNF217	miRNA target sites
MLLT6	miRNA target sites
NFKB1	miRNA target sites
GATAD2A	miRNA target sites
RASA4	miRNA target sites
HN1L	miRNA target sites
VDAC1	miRNA target sites
FOXJ3	miRNA target sites

Extended variants
information (count: 6549 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:6549 , 50 per page) page: 1 2 3 4 5 6 7 ... 131

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375011249	chr20:23029459-23029460	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs562719364	chr20:23029461-23029462	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs369315787	chr20:23029464-23029465	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs373829254	chr20:23029515-23029516	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs560743900	chr20:23029518-23029519	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs367987679	chr20:23029544-23029545	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs573436490	chr20:23029581-23029582	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs542108654	chr20:23029599-23029600	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs140335769	chr20:23029655-23029656	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs36110902	chr20:23029658-23029659	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs555688778	chr20:23029675-23029676	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs201702344	chr20:23029695-23029696	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs531781779	chr20:23029700-23029701	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs550522588	chr20:23029735-23029736	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs567418032	chr20:23029830-23029831	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs529826570	chr20:23029831-23029832	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs546519295	chr20:23029840-23029841	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs566429250	chr20:23029850-23029851	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs538290084	chr20:23029860-23029861	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs1800577	chr20:23029906-23029907	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs371725916	chr20:23029938-23029939	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs375030049	chr20:23029956-23029957	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs201268201	chr20:23029971-23029972	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs121918667	chr20:23029984-23029985	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs1800576	chr20:23030015-23030016	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs376399514	chr20:23030025-23030026	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs537919471	chr20:23030040-23030041	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs186259349	chr20:23030059-23030060	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs554351262	chr20:23030064-23030065	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs575112505	chr20:23030075-23030076	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs369921060	chr20:23030083-23030084	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs540826492	chr20:23030085-23030086	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs554544961	chr20:23030100-23030101	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs191884040	chr20:23030102-23030103	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs376209282	chr20:23030127-23030128	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs545878202	chr20:23030130-23030131	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs370548660	chr20:23030153-23030154	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs13306850	chr20:23030168-23030169	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs13306849	chr20:23030199-23030200	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs531725981	chr20:23030233-23030234	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs542345382	chr20:23030270-23030271	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs16984852	chr20:23030292-23030293	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs184176981	chr20:23030316-23030317	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs546382242	chr20:23030319-23030320	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs566439438	chr20:23030320-23030321	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs13306848	chr20:23030343-23030344	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs551909403	chr20:23030382-23030383	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
48	rs568801899	chr20:23030409-23030410	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
49	rs537420550	chr20:23030420-23030421	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
50	rs188831816	chr20:23030423-23030424	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Breast cancer	16608533	CNVD
Cancer	20164919	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17133270	CNVD
Thrombophilia	17576883	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Hepatocellular carcinoma	22174799	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Osteosarcoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
small cell lung cancer	17426248	CNVD

Chromatin state (count:3263 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23024600-23031400	Weak transcription	K562	blood
2	chr20:23026000-23032400	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr20:23026600-23029600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
4	chr20:23026600-23030400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
5	chr20:23026800-23032000	Active TSS	Left Ventricle	heart
6	chr20:23027000-23029600	Flanking Active TSS	NHEK	skin
7	chr20:23027400-23031800	Active TSS	Right Atrium	heart
8	chr20:23027400-23032400	Active TSS	Placenta Amnion	Placenta Amnion
9	chr20:23027600-23031800	Active TSS	HSMM	muscle
10	chr20:23027800-23031200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr20:23028000-23029600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr20:23028000-23029600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr20:23028000-23029600	Bivalent/Poised TSS	Small Intestine	intestine
14	chr20:23028000-23029800	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
15	chr20:23028000-23029800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
16	chr20:23028000-23029800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
17	chr20:23028000-23029800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
18	chr20:23028000-23031200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr20:23028000-23031600	Active TSS	HSMMtube	muscle
20	chr20:23028000-23032200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
21	chr20:23028000-23032800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
22	chr20:23028200-23029600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
23	chr20:23028200-23029800	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
24	chr20:23028200-23029800	Bivalent/Poised TSS	Osteobl	bone
25	chr20:23028200-23030200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr20:23028200-23030600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
27	chr20:23028200-23030800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
28	chr20:23028200-23031000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
29	chr20:23028200-23031200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr20:23028200-23031200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr20:23028200-23031200	Flanking Active TSS	HUVEC	blood vessel
32	chr20:23028200-23032000	Flanking Active TSS	HMEC	breast
33	chr20:23028200-23032400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
34	chr20:23028200-23032600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
35	chr20:23028400-23030400	Flanking Active TSS	Pancreas	Pancrea
36	chr20:23028400-23031200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
37	chr20:23028400-23031400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr20:23028400-23031600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
39	chr20:23028400-23032000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr20:23028400-23032200	Active TSS	Aorta	Aorta
41	chr20:23028600-23029600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
42	chr20:23028600-23029800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr20:23028600-23030400	Flanking Active TSS	Right Ventricle	heart
44	chr20:23028600-23030800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
45	chr20:23028600-23032000	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr20:23028600-23032200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
47	chr20:23028600-23032200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
48	chr20:23028600-23032200	Bivalent/Poised TSS	Thymus	Thymus
49	chr20:23028800-23029600	Bivalent Enhancer	Fetal Thymus	thymus
50	chr20:23028800-23029800	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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