Variant report

Variant	nsv459287
Chromosome Location	chr21:44829058-44866913
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2870)
CpG islands
(count:2259)
Chromatin interactive
region (count:177)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:2870 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:44847335-44847428	HepG2	liver:	n/a	n/a
2	ARID3A	chr21:44835701-44835956	HepG2	liver:	n/a	n/a
3	ARID3A	chr21:44859226-44859868	HepG2	liver:	n/a	n/a
4	ARID3A	chr21:44860645-44861351	HepG2	liver:	n/a	n/a
5	ATF1	chr21:44846961-44847396	K562	blood:	n/a	chr21:44847265-44847279
6	ATF2	chr21:44847088-44847463	GM12878	blood:	n/a	chr21:44847265-44847279
7	ATF2	chr21:44834484-44834933	GM12878	blood:	n/a	n/a
8	ATF2	chr21:44847082-44847349	H1-hESC	embryonic stem cell:	n/a	chr21:44847265-44847279
9	ATF2	chr21:44853247-44853969	GM12878	blood:	n/a	n/a
10	ATF3	chr21:44839391-44839777	A549	lung:	n/a	chr21:44839549-44839569
11	ATF3	chr21:44866146-44866579	A549	lung:	n/a	chr21:44866342-44866362 chr21:44866430-44866440 chr21:44866427-44866440 chr21:44866428-44866439 chr21:44866428-44866439
12	ATF3	chr21:44832229-44832540	K562	blood:	n/a	n/a
13	ATF3	chr21:44847090-44847452	K562	blood:	n/a	chr21:44847268-44847276 chr21:44847266-44847276 chr21:44847269-44847276 chr21:44847266-44847276 chr21:44847265-44847276
14	ATF3	chr21:44843997-44844632	A549	lung:	n/a	n/a
15	ATF3	chr21:44842312-44842894	A549	lung:	n/a	n/a
16	ATF3	chr21:44847065-44847399	K562	blood:	n/a	chr21:44847268-44847276 chr21:44847266-44847276 chr21:44847269-44847276 chr21:44847266-44847276 chr21:44847265-44847276
17	ATF3	chr21:44833580-44834096	A549	lung:	n/a	n/a
18	ATF3	chr21:44837965-44838548	A549	lung:	n/a	n/a
19	ATF3	chr21:44841596-44841907	A549	lung:	n/a	n/a
20	ATF3	chr21:44860603-44861562	A549	lung:	n/a	chr21:44860942-44860952 chr21:44860939-44860952
21	ATF3	chr21:44847018-44847464	A549	lung:	n/a	chr21:44847268-44847276 chr21:44847266-44847276 chr21:44847269-44847276 chr21:44847266-44847276 chr21:44847265-44847276
22	ATF3	chr21:44866239-44866536	K562	blood:	n/a	chr21:44866342-44866362 chr21:44866430-44866440 chr21:44866427-44866440 chr21:44866428-44866439 chr21:44866428-44866439
23	ATF3	chr21:44860618-44861375	A549	lung:	n/a	chr21:44860942-44860952 chr21:44860939-44860952
24	ATF3	chr21:44835572-44836040	A549	lung:	n/a	n/a
25	ATF3	chr21:44832077-44832570	A549	lung:	n/a	n/a
26	BACH1	chr21:44845753-44846383	H1-hESC	embryonic stem cell:	n/a	n/a
27	BACH1	chr21:44847278-44848020	H1-hESC	embryonic stem cell:	n/a	n/a
28	BACH1	chr21:44834084-44834264	H1-hESC	embryonic stem cell:	n/a	n/a
29	BACH1	chr21:44829228-44829357	H1-hESC	embryonic stem cell:	n/a	n/a
30	BATF	chr21:44853200-44853750	GM12878	blood:	n/a	n/a
31	BATF	chr21:44847133-44847409	GM12878	blood:	n/a	n/a
32	BATF	chr21:44831455-44831761	GM12878	blood:	n/a	chr21:44831630-44831640 chr21:44831629-44831640
33	BATF	chr21:44831538-44831725	GM12878	blood:	n/a	chr21:44831630-44831640 chr21:44831629-44831640
34	BATF	chr21:44829724-44830195	GM12878	blood:	n/a	n/a
35	BATF	chr21:44829959-44830152	GM12878	blood:	n/a	n/a
36	BATF	chr21:44853339-44853730	GM12878	blood:	n/a	n/a
37	BATF	chr21:44832224-44832481	GM12878	blood:	n/a	chr21:44832354-44832364 chr21:44832353-44832364
38	BCL11A	chr21:44853402-44853700	GM12878	blood:	n/a	n/a
39	BCL3	chr21:44847923-44848483	A549	lung:	n/a	n/a
40	BCL3	chr21:44841730-44842288	A549	lung:	n/a	n/a
41	BCL3	chr21:44860749-44861049	GM12878	blood:	n/a	n/a
42	BCL3	chr21:44843776-44844678	A549	lung:	n/a	n/a
43	BCL3	chr21:44860286-44861960	A549	lung:	n/a	chr21:44861341-44861350
44	BCL3	chr21:44834352-44836225	A549	lung:	n/a	n/a
45	BCL3	chr21:44841441-44842016	A549	lung:	n/a	n/a
46	BCL3	chr21:44839114-44839820	A549	lung:	n/a	n/a
47	BCL3	chr21:44836815-44839031	A549	lung:	n/a	chr21:44837091-44837104
48	BCL3	chr21:44829779-44834349	A549	lung:	n/a	chr21:44831632-44831641 chr21:44834192-44834205 chr21:44829830-44829839 chr21:44834100-44834113 chr21:44830927-44830936
49	BCL3	chr21:44843735-44845840	A549	lung:	n/a	n/a
50	BCL3	chr21:44845701-44846226	A549	lung:	n/a	chr21:44846108-44846117 chr21:44846109-44846122 chr21:44846067-44846080

(count:2259 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:44843568-44843618	K562	blood:	n/a
2	chr21:44830477-44830527	HPAEpiC	pulmonary alveolar:	n/a
3	chr21:44843568-44843618	K562	blood:	n/a
4	chr21:44830477-44830527	HPAEpiC	pulmonary alveolar:	n/a
5	chr21:44837158-44837208	HPAEpiC	pulmonary alveolar:	n/a
6	chr21:44845925-44845975	HRCEpiC	kidney:	n/a
7	chr21:44864361-44864411	NHBE	bronchial:	n/a
8	chr21:44840965-44841015	Caco-2	colon:	n/a
9	chr21:44847054-44847104	ProgFib	skin:	n/a
10	chr21:44863962-44864012	AG04450	lung:	fetal
11	chr21:44862425-44862475	Caco-2	colon:	n/a
12	chr21:44845925-44845975	SKMC	muscle:	n/a
13	chr21:44851244-44851294	GM19239	blood:	n/a
14	chr21:44834701-44834751	PrEC	prostate:	n/a
15	chr21:44847608-44847658	Hepatocyte	liver:	n/a
16	chr21:44847606-44847656	HIPEpiC	eye:	n/a
17	chr21:44831062-44831112	PrEC	prostate:	n/a
18	chr21:44834701-44834751	GM06990	blood:	n/a
19	chr21:44840120-44840170	U87	brain:	n/a
20	chr21:44845925-44845975	RPTEC	kidney:	n/a
21	chr21:44863611-44863661	HCM	heart:	n/a
22	chr21:44830921-44830971	HL-60	blood:	n/a
23	chr21:44864004-44864054	HCM	heart:	n/a
24	chr21:44846625-44846675	NHBE	bronchial:	n/a
25	chr21:44831040-44831090	NT2-D1	testis:	n/a
26	chr21:44847606-44847656	HCF	heart:	n/a
27	chr21:44830477-44830527	NHDF-neo	bronchial:	n/a
28	chr21:44847054-44847104	NT2-D1	testis:	n/a
29	chr21:44864004-44864054	GM12891	blood:	n/a
30	chr21:44863611-44863661	GM19239	blood:	n/a
31	chr21:44847231-44847281	PrEC	prostate:	n/a
32	chr21:44845927-44845977	SK-N-SH_RA	brain:	n/a
33	chr21:44847606-44847656	HPAEpiC	pulmonary alveolar:	n/a
34	chr21:44864600-44864650	LNCaP	prostate:	n/a
35	chr21:44840120-44840170	K562	blood:	n/a
36	chr21:44864361-44864411	HL-60	blood:	n/a
37	chr21:44863962-44864012	LNCaP	prostate:	n/a
38	chr21:44847231-44847281	NH-A	brain:	n/a
39	chr21:44840965-44841015	HepG2	liver:	n/a
40	chr21:44862425-44862475	HCF	heart:	n/a
41	chr21:44865764-44865814	NB4	blood:	n/a
42	chr21:44830846-44830896	Jurkat	blood:	n/a
43	chr21:44847054-44847104	SK-N-SH_RA	brain:	n/a
44	chr21:44853470-44853520	PFSK-1	brain:	n/a
45	chr21:44863962-44864012	SK-N-MC	brain:	n/a
46	chr21:44864600-44864650	HRPEpiC	eye:	n/a
47	chr21:44840965-44841015	Hela-S3	cervix:	n/a
48	chr21:44830846-44830896	AG10803	skin:	n/a
49	chr21:44847606-44847656	PFSK-1	brain:	n/a
50	chr21:44837158-44837208	PANC-1	pancreas:	n/a

(count:177 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr21:44826611..44829527-chr21:44923973..44926200,2	MCF-7	breast:
2	chr21:44840105..44840872-chrX:41193417..41194049,2	Hela-S3	cervix:
3	chr21:44601197..44603306-chr21:44842721..44844263,2	MCF-7	breast:
4	chr21:44847637..44848138-chr21:44864331..44864965,2	Hela-S3	cervix:
5	chr21:44748879..44756198-chr21:44843023..44848924,8	MCF-7	breast:
6	chr21:44847619..44848186-chr21:44866149..44867134,2	Hela-S3	cervix:
7	chr21:44840840..44841677-chr9:102585371..102586023,2	Hela-S3	cervix:
8	chr1:244614699..244615358-chr21:44847331..44848075,2	Hela-S3	cervix:
9	chr2:139958866..139960367-chr21:44857540..44859244,2	MCF-7	breast:
10	chr21:44855643..44857176-chr21:44881790..44884286,2	MCF-7	breast:
11	chr21:44844515..44847094-chr21:45079268..45081005,2	MCF-7	breast:
12	chr21:44803166..44805208-chr21:44860912..44863687,2	MCF-7	breast:
13	chr21:44858668..44862829-chr21:44863145..44867499,5	MCF-7	breast:
14	chr21:44817995..44818827-chr21:44829450..44830022,2	MCF-7	breast:
15	chr11:46258674..46259334-chr21:44865342..44866086,2	Hela-S3	cervix:
16	chr13:99852120..99852994-chr21:44846752..44847396,2	Hela-S3	cervix:
17	chr21:44759532..44761977-chr21:44827634..44830066,2	MCF-7	breast:
18	chr21:44853858..44855386-chr21:44856765..44859361,2	K562	blood:
19	chr17:62222897..62223818-chr21:44846604..44847770,3	Hela-S3	cervix:
20	chr21:44825113..44826687-chr21:44829541..44831627,2	K562	blood:
21	chr21:44844394..44844953-chr9:115512386..115513019,2	Hela-S3	cervix:
22	chr17:45266574..45267127-chr21:44864899..44865582,2	Hela-S3	cervix:
23	chr21:44843469..44848793-chr21:44863960..44868998,7	MCF-7	breast:
24	chr21:44596870..44597527-chr21:44832462..44833303,2	Hela-S3	cervix:
25	chr21:44595496..44597017-chr21:44829022..44831353,2	MCF-7	breast:
26	chr20:30192471..30193384-chr21:44846268..44846905,2	Hela-S3	cervix:
27	chr21:44818715..44822400-chr21:44825874..44830059,6	MCF-7	breast:
28	chr12:64237911..64238461-chr21:44865344..44866127,2	Hela-S3	cervix:
29	chr21:44846611..44847448-chr5:172197719..172198326,2	Hela-S3	cervix:
30	chr21:44843469..44848793-chr21:44863960..44868998,7	MCF-7	breast:
31	chr21:44865001..44865628-chr7:7222151..7222751,2	Hela-S3	cervix:
32	chr13:99738994..99739700-chr21:44835814..44836575,2	Hela-S3	cervix:
33	chr21:44757949..44760610-chr21:44866735..44869231,2	MCF-7	breast:
34	chr21:44829431..44829955-chr21:44849916..44850639,2	MCF-7	breast:
35	chr21:44845300..44847878-chr21:44896244..44899559,5	MCF-7	breast:
36	chr21:44839464..44839982-chr21:44921993..44922584,2	MCF-7	breast:
37	chr21:44586813..44589241-chr21:44845396..44848609,3	MCF-7	breast:
38	chr1:28876420..28878928-chr21:44838412..44840928,2	K562	blood:
39	chr21:44762637..44765134-chr21:44833534..44838012,6	MCF-7	breast:
40	chr21:44781136..44783679-chr21:44846485..44848438,3	MCF-7	breast:
41	chr21:44829643..44831600-chr21:44834056..44835815,3	MCF-7	breast:
42	chr21:44854452..44857638-chr21:44859220..44863254,5	MCF-7	breast:
43	chr21:44824614..44826616-chr21:44827888..44829786,2	MCF-7	breast:
44	chr21:44817777..44820163-chr21:44837731..44840134,2	MCF-7	breast:
45	chr17:7388016..7388727-chr21:44842203..44843108,2	Hela-S3	cervix:
46	chr21:44735164..44735664-chr21:44845974..44846544,2	MCF-7	breast:
47	chr21:44833113..44833867-chr6:12008935..12009469,2	Hela-S3	cervix:
48	chr21:44855929..44858122-chr21:44875140..44877495,2	MCF-7	breast:
49	chr21:44826966..44831025-chr21:44834316..44837805,5	K562	blood:
50	chr21:44835215..44837939-chr21:44907787..44909882,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RRP1B-3	chr21:44864600-44870801	NONHSAT082407
2	lnc-SIK1-4	chr21:44859455-44859759	XLOC_014105
3	lnc-RRP1B-3	chr21:44866481-44866681	NONHSAT082409
4	lnc-RRP1B-3	chr21:44866744-44866779	NONHSAT082409
5	lnc-RRP1B-3	chr21:44866481-44866779	XLOC_013964

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	SIK1	hsa-miR-32-5p	chr21:44835766-44835791
2	SIK1	hsa-miR-32-5p	chr21:44835772-44835765
3	SIK1	hsa-miR-32-5p	chr21:44834567-44834561

Variant related genes	Relation type
LINC00319	TF binding region
SIK1	TF binding region
LINC00319	CpG island
SIK1	CpG island
ENSG00000120129	chromatin interactions
ENSG00000187837	chromatin interactions
ENSG00000215301	chromatin interactions
ENSG00000155592	chromatin interactions
ENSG00000127914	chromatin interactions
ENSG00000136044	chromatin interactions
ENSG00000175711	chromatin interactions
ENSG00000160199	chromatin interactions
ENSG00000178999	chromatin interactions
ENSG00000112096	chromatin interactions
ENSG00000249915	chromatin interactions
ENSG00000163956	chromatin interactions
ENSG00000106392	chromatin interactions
ENSG00000185186	chromatin interactions
ENSG00000255234	chromatin interactions
ENSG00000162194	chromatin interactions
ENSG00000137500	chromatin interactions
ENSG00000255432	chromatin interactions
ENSG00000188641	chromatin interactions
ENSG00000143337	chromatin interactions
ENSG00000140859	chromatin interactions
ENSG00000160209	chromatin interactions
ENSG00000068323	chromatin interactions
ENSG00000199568	chromatin interactions
ENSG00000068784	chromatin interactions
ENSG00000197568	chromatin interactions
ENSG00000084090	chromatin interactions
ENSG00000138347	chromatin interactions
ENSG00000004897	chromatin interactions
ENSG00000226609	chromatin interactions
ENSG00000160202	chromatin interactions
ENSG00000187742	chromatin interactions
ENSG00000125944	chromatin interactions
ENSG00000120725	chromatin interactions
ENSG00000237864	chromatin interactions
ENSG00000199753	chromatin interactions
ENSG00000142178	chromatin interactions
ENSG00000095951	chromatin interactions
ENSG00000197860	chromatin interactions
ENSG00000273162	chromatin interactions
ENSG00000111678	chromatin interactions
ENSG00000125968	chromatin interactions
ENSG00000188660	chromatin interactions
ENSG00000118454	chromatin interactions
ENSG00000272173	chromatin interactions
ENSG00000270022	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000153575	chromatin interactions
ENSG00000163125	chromatin interactions
ENSG00000169908	chromatin interactions
ENSG00000160208	chromatin interactions
ENSG00000185808	chromatin interactions
ENSG00000160207	chromatin interactions
ENSG00000170633	chromatin interactions
ENSG00000248925	chromatin interactions
ENSG00000225637	chromatin interactions
ENSG00000089053	chromatin interactions
ENSG00000123213	chromatin interactions
ENSG00000237989	chromatin interactions
ENSG00000171316	chromatin interactions
ENSG00000204685	chromatin interactions
ENSG00000272906	chromatin interactions
ENSG00000228889	chromatin interactions
ENSG00000266402	chromatin interactions
ENSG00000261971	chromatin interactions
ENSG00000196935	chromatin interactions

Extended variants
information (count: 1877 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:1877 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7277440	chr21:44829058-44829059	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs193130014	chr21:44829077-44829078	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs4818955	chr21:44829087-44829088	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs372898012	chr21:44829104-44829105	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs115202608	chr21:44829111-44829112	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs558197698	chr21:44829126-44829127	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs8131260	chr21:44829147-44829148	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs537842366	chr21:44829170-44829171	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs182779035	chr21:44829172-44829173	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs151304361	chr21:44829193-44829194	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs62217367	chr21:44829197-44829198	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs8132569	chr21:44829198-44829199	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs34469086	chr21:44829210-44829211	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs34612782	chr21:44829218-44829219	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs574380995	chr21:44829225-44829226	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs76916802	chr21:44829242-44829243	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs62217368	chr21:44829249-44829250	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs374297623	chr21:44829267-44829268	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs561719563	chr21:44829273-44829274	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs577847619	chr21:44829278-44829279	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs150483637	chr21:44829288-44829289	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs191678355	chr21:44829298-44829299	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs531759662	chr21:44829312-44829313	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs183996066	chr21:44829313-44829314	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs138507488	chr21:44829378-44829379	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs187238797	chr21:44829462-44829463	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs544969116	chr21:44829466-44829467	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs559638382	chr21:44829479-44829480	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs533337198	chr21:44829519-44829520	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs529129855	chr21:44829529-44829530	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs145292424	chr21:44829532-44829533	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs537499778	chr21:44829544-44829545	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs193171212	chr21:44829572-44829573	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs567930967	chr21:44829585-44829586	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs137923903	chr21:44829595-44829596	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs373470715	chr21:44829626-44829627	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs149492427	chr21:44829629-44829630	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs117420346	chr21:44829665-44829666	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs144840125	chr21:44829678-44829679	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs539634241	chr21:44829708-44829709	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs375935220	chr21:44829709-44829710	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs185450598	chr21:44829729-44829730	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs190567418	chr21:44829784-44829785	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs377176446	chr21:44829788-44829789	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs576188188	chr21:44829830-44829831	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs111748781	chr21:44829940-44829941	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs375703058	chr21:44829942-44829943	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs200453400	chr21:44829958-44829959	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs375162484	chr21:44829959-44829960	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs199711481	chr21:44829960-44829961	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Ewing''s sarcoma	21437220	CNVD
Lung adenocarcinoma	17086460	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute myeloid leukemia	21358987	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	23341502	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Prostate cancer	18632612	CNVD
Neuroblastoma	20406844	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Cholangiocarcinoma	16830362	CNVD
Down syndrome	17334655	CNVD
Neuroticism	17667963	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Autoimmune polyendocrine syndrome	18200029	CNVD
Prostate cancer	19363497	CNVD
Lung cancer	17086460	CNVD
Olfactory neuroblastoma	18408657	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Multiple myeloma	16616336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	17142309	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1997 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44790600-44830800	Weak transcription	Right Atrium	heart
2	chr21:44817600-44829200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr21:44821200-44829200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr21:44821600-44835400	Weak transcription	Fetal Brain Female	brain
5	chr21:44821800-44831800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr21:44822000-44830000	Weak transcription	A549	lung
7	chr21:44822200-44829200	Weak transcription	Thymus	Thymus
8	chr21:44823200-44829200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr21:44824600-44829200	Weak transcription	Spleen	Spleen
10	chr21:44825000-44829400	Weak transcription	Esophagus	oesophagus
11	chr21:44825000-44830400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr21:44825000-44831600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr21:44825000-44833200	Weak transcription	HSMMtube	muscle
14	chr21:44826000-44829200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr21:44826000-44835000	Weak transcription	Right Ventricle	heart
16	chr21:44827200-44830000	Enhancers	Primary B cells from peripheral blood	blood
17	chr21:44827600-44829400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr21:44827600-44829600	Weak transcription	Fetal Intestine Large	intestine
19	chr21:44827800-44829600	Weak transcription	Fetal Intestine Small	intestine
20	chr21:44827800-44833800	Weak transcription	Liver	Liver
21	chr21:44828000-44834800	Enhancers	Fetal Muscle Leg	muscle
22	chr21:44828200-44830000	Enhancers	Primary B cells from cord blood	blood
23	chr21:44828400-44829200	Weak transcription	HepG2	liver
24	chr21:44828600-44829200	Enhancers	GM12878-XiMat	blood
25	chr21:44828600-44832800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr21:44828600-44834000	Weak transcription	Fetal Heart	heart
27	chr21:44828800-44829200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr21:44828800-44829400	Bivalent Enhancer	Placenta	Placenta
29	chr21:44828800-44830200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr21:44829000-44829600	Weak transcription	Brain Germinal Matrix	brain
31	chr21:44829000-44830000	Enhancers	Primary T cells fromperipheralblood	blood
32	chr21:44829000-44832600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr21:44829000-44832800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr21:44829000-44832800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr21:44829000-44833600	Enhancers	Fetal Thymus	thymus
36	chr21:44829000-44836600	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr21:44829200-44829400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr21:44829200-44829400	Weak transcription	Brain Anterior Caudate	brain
39	chr21:44829200-44829400	Enhancers	Brain Hippocampus Middle	brain
40	chr21:44829200-44829400	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr21:44829200-44829400	Genic enhancers	Spleen	Spleen
42	chr21:44829200-44829400	Enhancers	HepG2	liver
43	chr21:44829200-44829600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr21:44829200-44829600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr21:44829200-44829600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
46	chr21:44829200-44829600	Enhancers	HMEC	breast
47	chr21:44829200-44829600	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr21:44829200-44829800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr21:44829200-44829800	Enhancers	NH-A	brain
50	chr21:44829200-44830200	Enhancers	Primary T helper cells PMA-I stimulated	--

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