Variant report

Variant	nsv914032
Chromosome Location	chr21:46806423-46846015
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1354)
CpG islands
(count:1893)
Chromatin interactive
region (count:138)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1354 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:46843363-46843716	HepG2	liver:	n/a	n/a
2	ARID3A	chr21:46826256-46826693	HepG2	liver:	n/a	n/a
3	ARID3A	chr21:46818852-46818853	K562	blood:	n/a	n/a
4	ARID3A	chr21:46831448-46831676	K562	blood:	n/a	n/a
5	ARID3A	chr21:46806872-46807072	K562	blood:	n/a	n/a
6	ARID3A	chr21:46830208-46830708	HepG2	liver:	n/a	n/a
7	ATF1	chr21:46831325-46831776	K562	blood:	n/a	n/a
8	ATF3	chr21:46831347-46831770	K562	blood:	n/a	n/a
9	BACH1	chr21:46820940-46821280	K562	blood:	n/a	n/a
10	BACH1	chr21:46820955-46821287	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr21:46831239-46831947	K562	blood:	n/a	n/a
12	BACH1	chr21:46825635-46826507	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr21:46826783-46827235	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr21:46829924-46829947	K562	blood:	n/a	n/a
15	BACH1	chr21:46829979-46830027	H1-hESC	embryonic stem cell:	n/a	n/a
16	BHLHE40	chr21:46829246-46830762	HepG2	liver:	n/a	chr21:46830299-46830315
17	BHLHE40	chr21:46816008-46816116	HepG2	liver:	n/a	n/a
18	BHLHE40	chr21:46831089-46832076	K562	blood:	n/a	n/a
19	BHLHE40	chr21:46825694-46826042	HepG2	liver:	n/a	chr21:46825746-46825762 chr21:46825747-46825763
20	BHLHE40	chr21:46829719-46830053	K562	blood:	n/a	n/a
21	BHLHE40	chr21:46815971-46816196	K562	blood:	n/a	n/a
22	BHLHE40	chr21:46824106-46824205	K562	blood:	n/a	n/a
23	BHLHE40	chr21:46806802-46807158	K562	blood:	n/a	n/a
24	BHLHE40	chr21:46825731-46825825	K562	blood:	n/a	chr21:46825746-46825762 chr21:46825747-46825763
25	BHLHE40	chr21:46826246-46826616	HepG2	liver:	n/a	n/a
26	BHLHE40	chr21:46843385-46843570	HepG2	liver:	n/a	n/a
27	CBX3	chr21:46821033-46821469	HCT-116	colon:	n/a	n/a
28	CBX3	chr21:46831276-46831718	K562	blood:	n/a	n/a
29	CBX3	chr21:46820985-46821465	K562	blood:	n/a	n/a
30	CBX3	chr21:46820914-46821705	K562	blood:	n/a	n/a
31	CBX3	chr21:46831182-46831988	K562	blood:	n/a	n/a
32	CCNT2	chr21:46825232-46826246	K562	blood:	n/a	n/a
33	CCNT2	chr21:46831252-46831902	K562	blood:	n/a	chr21:46831676-46831685
34	CCNT2	chr21:46824623-46824856	K562	blood:	n/a	chr21:46824690-46824699
35	CEBPB	chr21:46829590-46829889	HepG2	liver:	n/a	n/a
36	CEBPB	chr21:46839017-46839387	K562	blood:	n/a	n/a
37	CEBPB	chr21:46839049-46839391	A549	lung:	n/a	n/a
38	CEBPB	chr21:46839050-46839634	HepG2	liver:	n/a	chr21:46839613-46839626
39	CEBPB	chr21:46839084-46839284	H1-hESC	embryonic stem cell:	n/a	n/a
40	CEBPB	chr21:46814851-46815104	IMR90	lung:	n/a	chr21:46814966-46814977
41	CEBPB	chr21:46839047-46839399	IMR90	lung:	n/a	n/a
42	CEBPB	chr21:46820897-46821028	Hela-S3	cervix:	n/a	chr21:46820993-46821004
43	CEBPB	chr21:46839093-46839275	Hela-S3	cervix:	n/a	n/a
44	CEBPB	chr21:46820833-46821043	HepG2	liver:	n/a	chr21:46820993-46821004
45	CEBPB	chr21:46831304-46831678	K562	blood:	n/a	n/a
46	CEBPB	chr21:46826873-46827110	H1-hESC	embryonic stem cell:	n/a	n/a
47	CEBPB	chr21:46806571-46807103	IMR90	lung:	n/a	n/a
48	CEBPB	chr21:46830385-46830609	HepG2	liver:	n/a	n/a
49	CEBPB	chr21:46830231-46830712	HepG2	liver:	n/a	n/a
50	CEBPB	chr21:46814970-46814999	K562	blood:	n/a	n/a

(count:1893 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:46844883-46844933	MCF-7	breast:	n/a
2	chr21:46812511-46812561	BJ	skin:	n/a
3	chr21:46844883-46844933	MCF-7	breast:	n/a
4	chr21:46812511-46812561	BJ	skin:	n/a
5	chr21:46845160-46845210	HCT-116	colon:	n/a
6	chr21:46826053-46826103	HRCEpiC	kidney:	n/a
7	chr21:46822283-46822333	PFSK-1	brain:	n/a
8	chr21:46829943-46829993	BE2_C	brain:	n/a
9	chr21:46813298-46813348	HepG2	liver:	n/a
10	chr21:46845110-46845160	SKMC	muscle:	n/a
11	chr21:46824701-46824751	HCM	heart:	n/a
12	chr21:46816585-46816635	HepG2	liver:	n/a
13	chr21:46845160-46845210	GM19239	blood:	n/a
14	chr21:46810558-46810608	SAEC	small airway:	n/a
15	chr21:46813145-46813195	BE2_C	brain:	n/a
16	chr21:46825840-46825890	AoSMC	blood vessel:	n/a
17	chr21:46812996-46813046	ProgFib	skin:	n/a
18	chr21:46812511-46812561	HepG2	liver:	n/a
19	chr21:46844965-46845015	GM12892	blood:	n/a
20	chr21:46825856-46825906	GM12892	blood:	n/a
21	chr21:46824732-46824782	CMK	blood:	n/a
22	chr21:46812511-46812561	HCT-116	colon:	n/a
23	chr21:46812511-46812561	NB4	blood:	n/a
24	chr21:46845775-46845825	LNCaP	prostate:	n/a
25	chr21:46813036-46813086	GM19239	blood:	n/a
26	chr21:46811242-46811292	CMK	blood:	n/a
27	chr21:46825222-46825272	HNPCEpiC	eye:	n/a
28	chr21:46829943-46829993	SK-N-MC	brain:	n/a
29	chr21:46844971-46845021	GM12878	blood:	n/a
30	chr21:46825222-46825272	SKMC	muscle:	n/a
31	chr21:46825856-46825906	Hela-S3	cervix:	n/a
32	chr21:46826053-46826103	PFSK-1	brain:	n/a
33	chr21:46816585-46816635	PrEC	prostate:	n/a
34	chr21:46825856-46825906	BJ	skin:	n/a
35	chr21:46813036-46813086	MCF-7	breast:	n/a
36	chr21:46829943-46829993	HCM	heart:	n/a
37	chr21:46824976-46825026	HepG2	liver:	n/a
38	chr21:46827585-46827635	HCM	heart:	n/a
39	chr21:46845775-46845825	HCT-116	colon:	n/a
40	chr21:46823800-46823850	Jurkat	blood:	n/a
41	chr21:46810558-46810608	MCF-7	breast:	n/a
42	chr21:46845110-46845160	CMK	blood:	n/a
43	chr21:46816585-46816635	CMK	blood:	n/a
44	chr21:46827585-46827635	HPAEpiC	pulmonary alveolar:	n/a
45	chr21:46813036-46813086	HRPEpiC	eye:	n/a
46	chr21:46816585-46816635	GM12878	blood:	n/a
47	chr21:46829943-46829993	U87	brain:	n/a
48	chr21:46825856-46825906	AG10803	skin:	n/a
49	chr21:46810558-46810608	U87	brain:	n/a
50	chr21:46824278-46824328	SK-N-SH	brain:	n/a

(count:138 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr21:46830376..46832624-chr21:46896929..46899496,3	K562	blood:
2	chr21:46749747..46750781-chr21:46806359..46807209,5	MCF-7	breast:
3	chr21:46812731..46814919-chr21:46818975..46821230,3	K562	blood:
4	chr21:46747051..46752396-chr21:46845413..46850647,11	MCF-7	breast:
5	chr21:46806554..46807231-chr21:46822875..46823650,4	MCF-7	breast:
6	chr21:46806549..46807464-chr21:46858973..46859877,6	MCF-7	breast:
7	chr21:46827006..46828949-chr21:46880636..46883293,2	MCF-7	breast:
8	chr1:45186910..45187873-chr21:46824757..46825283,2	HCT-116	colon:
9	chr21:46737653..46759617-chr21:46790778..46832239,260	MCF-7	breast:
10	chr21:46791477..46793096-chr21:46835221..46836872,2	MCF-7	breast:
11	chr21:46806361..46807231-chr21:46822875..46823797,3	MCF-7	breast:
12	chr21:46821608..46828973-chr21:46832792..46845018,27	MCF-7	breast:
13	chr21:46671592..46674476-chr21:46821725..46823483,2	MCF-7	breast:
14	chr21:46493694..46496382-chr21:46832590..46835046,2	K562	blood:
15	chr21:46821077..46829630-chr21:46845223..46853912,19	MCF-7	breast:
16	chr21:46747203..46749019-chr21:46805036..46807278,2	MCF-7	breast:
17	chr21:46772479..46773324-chr21:46806372..46806978,2	MCF-7	breast:
18	chr21:46806717..46808648-chr21:46875033..46877247,2	MCF-7	breast:
19	chr21:46798667..46799336-chr21:46806462..46807020,2	MCF-7	breast:
20	chr21:46347607..46349346-chr21:46823513..46825276,2	MCF-7	breast:
21	chr21:46828577..46833638-chr21:46836012..46839071,6	K562	blood:
22	chr21:46845516..46850267-chr21:46850459..46856499,8	K562	blood:
23	chr21:46806554..46807231-chr21:46822875..46823650,4	MCF-7	breast:
24	chr21:46749904..46750825-chr21:46806315..46807295,18	MCF-7	breast:
25	chr21:46804810..46811402-chr21:46821820..46829948,15	MCF-7	breast:
26	chr21:46830362..46833023-chr21:46840138..46843131,2	K562	blood:
27	chr21:46803552..46805474-chr21:46807144..46808933,2	K562	blood:
28	chr21:46596731..46599349-chr21:46833672..46835345,2	K562	blood:
29	chr21:46806345..46808330-chr21:46821258..46823797,2	K562	blood:
30	chr21:46677419..46679156-chr21:46838210..46839952,2	MCF-7	breast:
31	chr21:46708105..46709670-chr21:46840415..46842231,2	MCF-7	breast:
32	chr21:46706899..46709587-chr21:46836599..46838129,2	K562	blood:
33	chr21:46822960..46823792-chr21:46847550..46848262,2	MCF-7	breast:
34	chr21:46823109..46826599-chr21:46959366..46963306,4	MCF-7	breast:
35	chr21:46749381..46750731-chr21:46806315..46807401,16	MCF-7	breast:
36	chr21:46806447..46807011-chr21:46816523..46817171,2	MCF-7	breast:
37	chr21:46806273..46808920-chr21:46814989..46817504,2	MCF-7	breast:
38	chr21:46829315..46836267-chr21:46838071..46844236,9	MCF-7	breast:
39	chr21:46799530..46802029-chr21:46822575..46824285,2	MCF-7	breast:
40	chr21:46813521..46815035-chr21:46821963..46824587,2	MCF-7	breast:
41	chr21:46806329..46807181-chr21:46847386..46848279,6	MCF-7	breast:
42	chr21:46812352..46814348-chr21:46814629..46817990,4	K562	blood:
43	chr16:52787024..52787803-chr21:46823035..46823555,2	MCF-7	breast:
44	chr21:46835983..46836570-chr21:46847777..46848282,2	MCF-7	breast:
45	chr21:46835412..46838491-chr21:46844318..46847431,3	K562	blood:
46	chr21:46815255..46817876-chr21:46826739..46829076,2	MCF-7	breast:
47	chr21:46740133..46740705-chr21:46841446..46842117,2	MCF-7	breast:
48	chr21:46806340..46808565-chr21:46858343..46860939,2	MCF-7	breast:
49	chr21:46815514..46817659-chr21:46961656..46963644,2	MCF-7	breast:
50	chr18:33708989..33710676-chr21:46824824..46827690,2	MCF-7	breast:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC19A1-2	chr21:46827923-46828014	ENSG00000224574.1
2	lnc-SLC19A1-1	chr21:46843685-46844955	ENSG00000183535
3	lnc-SLC19A1-1	chr21:46842327-46842576	ENSG00000183535
4	lnc-SLC19A1-1	chr21:46844799-46844985	ENSG00000183535
5	lnc-SLC19A1-1	chr21:46839631-46841534	ENSG00000183535
6	lnc-SLC19A1-2	chr21:46827301-46827535	ENSG00000224574.1
7	lnc-SLC19A1-2	chr21:46828372-46828478	ENSG00000224574.1
8	lnc-SLC19A1-2	chr21:46829863-46829980	ENSG00000224574.1
9	lnc-SLC19A1-1	chr21:46839631-46841534	ENSG00000183535
10	lnc-SLC19A1-1	chr21:46842327-46842576	ENSG00000183535

No data

Variant related genes	Relation type
COL18A1-AS2	TF binding region
COL18A1	TF binding region
COL18A1-AS1	TF binding region
COL18A1-AS2	CpG island
COL18A1	CpG island
COL18A1-AS1	CpG island
ENSG00000197381	chromatin interactions
ENSG00000215447	chromatin interactions
ENSG00000228930	chromatin interactions
ENSG00000182871	chromatin interactions
ENSG00000199377	chromatin interactions
ENSG00000167508	chromatin interactions
ENSG00000134759	chromatin interactions
ENSG00000229382	chromatin interactions
ENSG00000173638	chromatin interactions
ENSG00000228355	chromatin interactions
ENSG00000183535	chromatin interactions
ENSG00000169696	chromatin interactions
ENSG00000237664	chromatin interactions
ENSG00000224574	chromatin interactions
ENSG00000223768	chromatin interactions
ENSG00000235374	chromatin interactions
ENSG00000160255	chromatin interactions
ENSG00000141424	chromatin interactions
ENSG00000186866	chromatin interactions
PTGFRN	miRNA target sites
RFX7	miRNA target sites
SORCS3	miRNA target sites

Extended variants
information (count: 1975 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:1975 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4819085	chr21:46806423-46806424	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs372476173	chr21:46806452-46806453	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs537476964	chr21:46806453-46806454	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs112583611	chr21:46806463-46806464	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs567856527	chr21:46806465-46806466	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs7277129	chr21:46806481-46806482	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs553505669	chr21:46806495-46806496	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs572170992	chr21:46806505-46806506	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs369280769	chr21:46806514-46806515	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs4819086	chr21:46806537-46806538	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs577144336	chr21:46806548-46806549	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs544661303	chr21:46806564-46806565	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs185177305	chr21:46806681-46806682	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs2838904	chr21:46806682-46806683	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs574336916	chr21:46806684-46806685	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs542344407	chr21:46806685-46806686	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs560708404	chr21:46806687-46806688	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs527895252	chr21:46806706-46806707	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs546455185	chr21:46806755-46806756	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs146587009	chr21:46806760-46806761	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs75256289	chr21:46806814-46806815	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs115328270	chr21:46806818-46806819	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs528929982	chr21:46806850-46806851	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs115814212	chr21:46806851-46806852	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs531436733	chr21:46806852-46806853	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs539281116	chr21:46806862-46806863	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs558026908	chr21:46806867-46806868	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs569890556	chr21:46806901-46806902	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs537350750	chr21:46806902-46806903	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs556549079	chr21:46806908-46806909	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs371009839	chr21:46806917-46806918	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs544666886	chr21:46806930-46806931	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs542309266	chr21:46806931-46806932	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs539872249	chr21:46806932-46806933	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs369247770	chr21:46806965-46806966	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs549873752	chr21:46806985-46806986	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs572598359	chr21:46806991-46806992	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs375754345	chr21:46806992-46806993	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs564712866	chr21:46806994-46806995	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs559790560	chr21:46807013-46807014	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs564441235	chr21:46807033-46807034	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs532094638	chr21:46807052-46807053	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs531840521	chr21:46807071-46807072	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs543730894	chr21:46807093-46807094	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs373129473	chr21:46807101-46807102	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs377712039	chr21:46807128-46807129	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs561315286	chr21:46807131-46807132	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs528894187	chr21:46807143-46807144	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs547444411	chr21:46807169-46807170	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs114574974	chr21:46807176-46807177	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
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
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	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
Prostate cancer	18632612	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
Breast cancer	17142309	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	17426248	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Lung cancer	21203850	CNVD
Ependymoma	20639864	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:1373 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46787600-46806800	Weak transcription	Right Atrium	heart
2	chr21:46798200-46807600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr21:46802800-46808800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr21:46803200-46807400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr21:46804200-46808400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr21:46804400-46808800	Enhancers	Ovary	ovary
7	chr21:46804800-46806600	Enhancers	NHDF-Ad	bronchial
8	chr21:46805400-46806600	Weak transcription	Fetal Kidney	kidney
9	chr21:46805400-46807600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr21:46805400-46808200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr21:46805800-46807400	Enhancers	Pancreas	Pancrea
12	chr21:46806000-46806600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr21:46806000-46808600	Enhancers	Fetal Heart	heart
14	chr21:46806000-46808800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr21:46806200-46806600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr21:46806200-46806600	Bivalent Enhancer	Adipose Nuclei	Adipose
17	chr21:46806200-46806600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
18	chr21:46806200-46806600	Enhancers	NHLF	lung
19	chr21:46806200-46806800	Enhancers	Placenta Amnion	Placenta Amnion
20	chr21:46806200-46806800	Bivalent Enhancer	HepG2	liver
21	chr21:46806200-46807400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr21:46806200-46807400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr21:46806200-46807400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr21:46806200-46807400	Enhancers	A549	lung
25	chr21:46806200-46807800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr21:46806200-46808200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr21:46806200-46808400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
28	chr21:46806200-46808600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr21:46806200-46808600	Bivalent Enhancer	Placenta	Placenta
30	chr21:46806200-46808800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr21:46806400-46806600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr21:46806400-46806600	Bivalent Enhancer	Colonic Mucosa	Colon
33	chr21:46806400-46806600	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr21:46806400-46806600	Enhancers	Osteobl	bone
35	chr21:46806400-46806800	Enhancers	Aorta	Aorta
36	chr21:46806400-46806800	Bivalent Enhancer	Fetal Intestine Small	intestine
37	chr21:46806400-46806800	Bivalent Enhancer	Fetal Muscle Leg	muscle
38	chr21:46806400-46806800	Flanking Active TSS	HSMMtube	muscle
39	chr21:46806400-46807200	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr21:46806400-46807200	Enhancers	HMEC	breast
41	chr21:46806400-46807400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr21:46806400-46807400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr21:46806400-46807400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr21:46806400-46807400	Enhancers	Colon Smooth Muscle	Colon
45	chr21:46806400-46807400	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr21:46806400-46807400	Enhancers	Rectal Smooth Muscle	rectum
47	chr21:46806400-46807400	Enhancers	Right Ventricle	heart
48	chr21:46806400-46807600	Enhancers	NH-A	brain
49	chr21:46806400-46807800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr21:46806400-46807800	Enhancers	Esophagus	oesophagus

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