Variant report

Variant	nsv914033
Chromosome Location	chr21:46809884-46839904
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:988)
CpG islands
(count:1404)
Chromatin interactive
region (count:82)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:988 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:46826256-46826693	HepG2	liver:	n/a	n/a
2	ARID3A	chr21:46830208-46830708	HepG2	liver:	n/a	n/a
3	ARID3A	chr21:46831448-46831676	K562	blood:	n/a	n/a
4	ARID3A	chr21:46818852-46818853	K562	blood:	n/a	n/a
5	ATF1	chr21:46831325-46831776	K562	blood:	n/a	n/a
6	ATF3	chr21:46831347-46831770	K562	blood:	n/a	n/a
7	BACH1	chr21:46826783-46827235	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr21:46829979-46830027	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr21:46829924-46829947	K562	blood:	n/a	n/a
10	BACH1	chr21:46825635-46826507	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr21:46820955-46821287	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr21:46820940-46821280	K562	blood:	n/a	n/a
13	BACH1	chr21:46831239-46831947	K562	blood:	n/a	n/a
14	BHLHE40	chr21:46829719-46830053	K562	blood:	n/a	n/a
15	BHLHE40	chr21:46815971-46816196	K562	blood:	n/a	n/a
16	BHLHE40	chr21:46825731-46825825	K562	blood:	n/a	chr21:46825746-46825762 chr21:46825747-46825763
17	BHLHE40	chr21:46816008-46816116	HepG2	liver:	n/a	n/a
18	BHLHE40	chr21:46826246-46826616	HepG2	liver:	n/a	n/a
19	BHLHE40	chr21:46829246-46830762	HepG2	liver:	n/a	chr21:46830299-46830315
20	BHLHE40	chr21:46825694-46826042	HepG2	liver:	n/a	chr21:46825746-46825762 chr21:46825747-46825763
21	BHLHE40	chr21:46824106-46824205	K562	blood:	n/a	n/a
22	BHLHE40	chr21:46831089-46832076	K562	blood:	n/a	n/a
23	CBX3	chr21:46831182-46831988	K562	blood:	n/a	n/a
24	CBX3	chr21:46821033-46821469	HCT-116	colon:	n/a	n/a
25	CBX3	chr21:46820914-46821705	K562	blood:	n/a	n/a
26	CBX3	chr21:46831276-46831718	K562	blood:	n/a	n/a
27	CBX3	chr21:46820985-46821465	K562	blood:	n/a	n/a
28	CCNT2	chr21:46831252-46831902	K562	blood:	n/a	chr21:46831676-46831685
29	CCNT2	chr21:46824623-46824856	K562	blood:	n/a	chr21:46824690-46824699
30	CCNT2	chr21:46825232-46826246	K562	blood:	n/a	n/a
31	CEBPB	chr21:46839047-46839399	IMR90	lung:	n/a	n/a
32	CEBPB	chr21:46839093-46839275	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr21:46831304-46831678	K562	blood:	n/a	n/a
34	CEBPB	chr21:46820833-46821043	HepG2	liver:	n/a	chr21:46820993-46821004
35	CEBPB	chr21:46839049-46839391	A549	lung:	n/a	n/a
36	CEBPB	chr21:46830340-46830758	HepG2	liver:	n/a	n/a
37	CEBPB	chr21:46820897-46821028	Hela-S3	cervix:	n/a	chr21:46820993-46821004
38	CEBPB	chr21:46826873-46827110	H1-hESC	embryonic stem cell:	n/a	n/a
39	CEBPB	chr21:46830402-46830689	K562	blood:	n/a	n/a
40	CEBPB	chr21:46814961-46814996	HepG2	liver:	n/a	chr21:46814966-46814977
41	CEBPB	chr21:46839084-46839284	H1-hESC	embryonic stem cell:	n/a	n/a
42	CEBPB	chr21:46814970-46814999	K562	blood:	n/a	n/a
43	CEBPB	chr21:46829590-46829889	HepG2	liver:	n/a	n/a
44	CEBPB	chr21:46814851-46815104	IMR90	lung:	n/a	chr21:46814966-46814977
45	CEBPB	chr21:46830231-46830712	HepG2	liver:	n/a	n/a
46	CEBPB	chr21:46839050-46839634	HepG2	liver:	n/a	chr21:46839613-46839626
47	CEBPB	chr21:46839017-46839387	K562	blood:	n/a	n/a
48	CEBPB	chr21:46839044-46839399	K562	blood:	n/a	n/a
49	CEBPB	chr21:46830385-46830609	HepG2	liver:	n/a	n/a
50	CEBPD	chr21:46830366-46830744	HepG2	liver:	n/a	n/a

(count:1404 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:46829943-46829993	BJ	skin:	n/a
2	chr21:46829943-46829993	BJ	skin:	n/a
3	chr21:46824976-46825026	BE2_C	brain:	n/a
4	chr21:46825840-46825890	HCM	heart:	n/a
5	chr21:46825856-46825906	SK-N-SH_RA	brain:	n/a
6	chr21:46813298-46813348	Jurkat	blood:	n/a
7	chr21:46825004-46825054	SKMC	muscle:	n/a
8	chr21:46812996-46813046	HRPEpiC	eye:	n/a
9	chr21:46824938-46824988	HUVEC	blood vessel:	n/a
10	chr21:46824278-46824328	T-47D	breast:	n/a
11	chr21:46824938-46824988	AG09319	gingival:	n/a
12	chr21:46810558-46810608	ProgFib	skin:	n/a
13	chr21:46824278-46824328	HRCEpiC	kidney:	n/a
14	chr21:46812511-46812561	AG10803	skin:	n/a
15	chr21:46816585-46816635	HNPCEpiC	eye:	n/a
16	chr21:46812511-46812561	HEK293	kidney:	embryo
17	chr21:46825840-46825890	HCT-116	colon:	n/a
18	chr21:46812511-46812561	HIPEpiC	eye:	n/a
19	chr21:46813036-46813086	HNPCEpiC	eye:	n/a
20	chr21:46813298-46813348	HPAEpiC	pulmonary alveolar:	n/a
21	chr21:46823800-46823850	A549	lung:	n/a
22	chr21:46824732-46824782	HCF	heart:	n/a
23	chr21:46824701-46824751	HEEpiC	esophagus:	n/a
24	chr21:46825856-46825906	SK-N-MC	brain:	n/a
25	chr21:46826053-46826103	BJ	skin:	n/a
26	chr21:46825856-46825906	Hela-S3	cervix:	n/a
27	chr21:46825190-46825240	HMEC	breast:	n/a
28	chr21:46812996-46813046	SK-N-SH	brain:	n/a
29	chr21:46824701-46824751	SKMC	muscle:	n/a
30	chr21:46812511-46812561	HepG2	liver:	n/a
31	chr21:46825856-46825906	GM12892	blood:	n/a
32	chr21:46827585-46827635	T-47D	breast:	n/a
33	chr21:46810558-46810608	K562	blood:	n/a
34	chr21:46825840-46825890	AG09309	skin:	n/a
35	chr21:46816585-46816635	PANC-1	pancreas:	n/a
36	chr21:46824938-46824988	HIPEpiC	eye:	n/a
37	chr21:46823800-46823850	AoSMC	blood vessel:	n/a
38	chr21:46826053-46826103	RPTEC	kidney:	n/a
39	chr21:46824278-46824328	BE2_C	brain:	n/a
40	chr21:46829943-46829993	H1-hESC	embryonic stem cell:	embryo
41	chr21:46824701-46824751	AG10803	skin:	n/a
42	chr21:46810558-46810608	PFSK-1	brain:	n/a
43	chr21:46813145-46813195	SAEC	small airway:	n/a
44	chr21:46825190-46825240	GM12892	blood:	n/a
45	chr21:46824278-46824328	NB4	blood:	n/a
46	chr21:46825222-46825272	NHBE	bronchial:	n/a
47	chr21:46822283-46822333	BJ	skin:	n/a
48	chr21:46813036-46813086	CMK	blood:	n/a
49	chr21:46824278-46824328	IMR90	lung:	fetal
50	chr21:46825222-46825272	T-47D	breast:	n/a

(count:82 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr17:79934314..79937296-chr21:46823774..46826459,2	MCF-7	breast:
2	chr21:46823776..46826786-chr21:46842051..46844985,3	K562	blood:
3	chr21:46812352..46814348-chr21:46814629..46817990,4	K562	blood:
4	chr21:46805019..46806811-chr21:46809403..46811223,2	K562	blood:
5	chr21:46711273..46715306-chr21:46820522..46825546,4	MCF-7	breast:
6	chr21:46831362..46835093-chr21:46849359..46854301,7	K562	blood:
7	chr21:46782569..46785159-chr21:46825170..46827160,3	K562	blood:
8	chr21:46815716..46818136-chr21:46821509..46823991,2	MCF-7	breast:
9	chr21:46493694..46496382-chr21:46832590..46835046,2	K562	blood:
10	chr21:46806447..46807011-chr21:46816523..46817171,2	MCF-7	breast:
11	chr21:46795695..46798042-chr21:46828923..46832709,3	K562	blood:
12	chr21:46710906..46714348-chr21:46821217..46828800,8	MCF-7	breast:
13	chr21:46671592..46674476-chr21:46821725..46823483,2	MCF-7	breast:
14	chr21:46813521..46815035-chr21:46821963..46824587,2	MCF-7	breast:
15	chr21:46706899..46709587-chr21:46836599..46838129,2	K562	blood:
16	chr21:46830362..46833023-chr21:46840138..46843131,2	K562	blood:
17	chr17:55974844..55977592-chr21:46822151..46823682,2	MCF-7	breast:
18	chr21:46835983..46836570-chr21:46847777..46848282,2	MCF-7	breast:
19	chr21:46806554..46807231-chr21:46822875..46823650,4	MCF-7	breast:
20	chr21:46791477..46793096-chr21:46835221..46836872,2	MCF-7	breast:
21	chr21:46815514..46817659-chr21:46961656..46963644,2	MCF-7	breast:
22	chr21:46739975..46742517-chr21:46825868..46828484,2	MCF-7	breast:
23	chr21:46831123..46833429-chr21:46848664..46851628,3	K562	blood:
24	chr21:46812731..46814919-chr21:46818975..46821230,3	K562	blood:
25	chr21:46818747..46822859-chr21:46823423..46827083,3	K562	blood:
26	chr21:46761101..46763547-chr21:46833880..46836037,2	K562	blood:
27	chr21:46775506..46777131-chr21:46825203..46827487,2	MCF-7	breast:
28	chr21:46822960..46823792-chr21:46847550..46848262,2	MCF-7	breast:
29	chr21:46808725..46810269-chr21:46819754..46821764,2	MCF-7	breast:
30	chr21:46493214..46495791-chr21:46808265..46810578,2	K562	blood:
31	chr21:46821608..46828973-chr21:46832792..46845018,27	MCF-7	breast:
32	chr21:46830376..46832624-chr21:46896929..46899496,3	K562	blood:
33	chr21:46812352..46814348-chr21:46814629..46817990,4	K562	blood:
34	chr21:46835412..46838491-chr21:46844318..46847431,3	K562	blood:
35	chr21:46745659..46751207-chr21:46833344..46838070,8	MCF-7	breast:
36	chr21:46706749..46715722-chr21:46804321..46810698,17	MCF-7	breast:
37	chr21:46804810..46811402-chr21:46821820..46829948,15	MCF-7	breast:
38	chr21:46812731..46814919-chr21:46818975..46821230,3	K562	blood:
39	chr21:46806361..46807231-chr21:46822875..46823797,3	MCF-7	breast:
40	chr21:46832695..46835093-chr21:46851754..46853849,2	K562	blood:
41	chr21:46815255..46817876-chr21:46826739..46829076,2	MCF-7	breast:
42	chr21:46749915..46750582-chr21:46836066..46836889,2	MCF-7	breast:
43	chr21:46817074..46822859-chr21:46823457..46827335,6	K562	blood:
44	chr21:46806415..46807209-chr21:46836480..46837049,2	MCF-7	breast:
45	chr21:46799462..46802195-chr21:46808207..46810384,2	K562	blood:
46	chr21:46711387..46713882-chr21:46825675..46829232,3	MCF-7	breast:
47	chr21:46825636..46827405-chr21:46859445..46862204,2	MCF-7	breast:
48	chr21:46823109..46826599-chr21:46959366..46963306,4	MCF-7	breast:
49	chr21:46829315..46836267-chr21:46838071..46844236,9	MCF-7	breast:
50	chr21:46799530..46802029-chr21:46822575..46824285,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC19A1-2	chr21:46828372-46828478	ENSG00000224574.1
2	lnc-SLC19A1-2	chr21:46827923-46828014	ENSG00000224574.1
3	lnc-SLC19A1-2	chr21:46829863-46829980	ENSG00000224574.1
4	lnc-SLC19A1-1	chr21:46839631-46841534	ENSG00000183535
5	lnc-SLC19A1-1	chr21:46839631-46841534	ENSG00000183535
6	lnc-SLC19A1-2	chr21:46827301-46827535	ENSG00000224574.1

No data

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

Extended variants
information (count: 1445 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:1445 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4819090	chr21:46809884-46809885	Weak transcription	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs4819091	chr21:46809902-46809903	Weak transcription	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs543048999	chr21:46809909-46809910	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs561128511	chr21:46809950-46809951	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs542033616	chr21:46809987-46809988	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs34031500	chr21:46809993-46809994	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs4819092	chr21:46810003-46810004	Weak transcription Genic enhancers	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs56292770	chr21:46810010-46810011	Weak transcription Genic enhancers	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs565460221	chr21:46810021-46810022	Weak transcription Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs139190556	chr21:46810022-46810023	Weak transcription Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs551291649	chr21:46810073-46810074	Weak transcription Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs192610690	chr21:46810075-46810076	Weak transcription Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs536952626	chr21:46810088-46810089	Weak transcription Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs548123806	chr21:46810118-46810119	Weak transcription Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs566370196	chr21:46810162-46810163	Weak transcription Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs533853157	chr21:46810172-46810173	Weak transcription Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs184779541	chr21:46810173-46810174	Weak transcription Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs149990037	chr21:46810176-46810177	Weak transcription Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs146538243	chr21:46810187-46810188	Weak transcription Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs141306304	chr21:46810199-46810200	Weak transcription Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs367955623	chr21:46810235-46810236	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs574350899	chr21:46810245-46810246	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs541779233	chr21:46810315-46810316	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs561300908	chr21:46810363-46810364	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs188098190	chr21:46810368-46810369	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs540699049	chr21:46810391-46810392	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs533407164	chr21:46810420-46810421	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs6518239	chr21:46810435-46810436	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs532741239	chr21:46810454-46810455	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs192679128	chr21:46810459-46810460	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs55896163	chr21:46810468-46810469	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs145033145	chr21:46810470-46810471	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs548618743	chr21:46810489-46810490	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs566449254	chr21:46810556-46810557	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs113957704	chr21:46810559-46810560	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs552247906	chr21:46810563-46810564	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs570253507	chr21:46810572-46810573	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs537558628	chr21:46810578-46810579	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs555911763	chr21:46810584-46810585	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs567929497	chr21:46810593-46810594	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs59146325	chr21:46810602-46810603	Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs184489950	chr21:46810611-46810612	Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs573185095	chr21:46810628-46810629	Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs540306942	chr21:46810631-46810632	Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs558998660	chr21:46810632-46810633	Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs577361680	chr21:46810654-46810655	Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs535646127	chr21:46810663-46810664	Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs188843419	chr21:46810680-46810681	Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs530266793	chr21:46810713-46810714	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs542490131	chr21:46810765-46810766	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

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

Chromatin state (count:1035 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46807400-46816600	Weak transcription	Pancreas	Pancrea
2	chr21:46807800-46824400	Weak transcription	Right Atrium	heart
3	chr21:46808200-46813000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr21:46808600-46811600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr21:46808600-46812800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr21:46808800-46810000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr21:46808800-46810000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr21:46808800-46810200	Weak transcription	Spleen	Spleen
9	chr21:46810000-46810800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr21:46810200-46810400	Enhancers	Spleen	Spleen
11	chr21:46810400-46810600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr21:46810400-46810600	Bivalent Enhancer	HepG2	liver
13	chr21:46810800-46811200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr21:46811200-46814000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr21:46811400-46811600	Bivalent Enhancer	K562	blood
16	chr21:46811600-46811800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr21:46811800-46813000	Enhancers	Fetal Thymus	thymus
18	chr21:46811800-46813400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr21:46812600-46812800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr21:46812800-46813600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr21:46813000-46813200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr21:46813000-46813200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr21:46813000-46813400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr21:46813200-46813400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr21:46814000-46816000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr21:46814200-46814400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr21:46814400-46816600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr21:46816000-46816200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr21:46816000-46816400	Enhancers	Fetal Muscle Leg	muscle
30	chr21:46816000-46816400	Bivalent Enhancer	K562	blood
31	chr21:46816200-46816400	Bivalent Enhancer	HepG2	liver
32	chr21:46816200-46819600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr21:46816600-46816800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr21:46816600-46816800	Enhancers	Pancreas	Pancrea
35	chr21:46816800-46818000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr21:46818800-46819600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr21:46821000-46821800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr21:46821800-46822600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr21:46822000-46822400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
40	chr21:46822000-46823800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr21:46822200-46822800	Enhancers	Ovary	ovary
42	chr21:46822200-46823200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr21:46822200-46824000	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr21:46822200-46824200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr21:46822200-46824400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr21:46822400-46824200	Enhancers	HMEC	breast
47	chr21:46822600-46822800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr21:46822600-46822800	Bivalent Enhancer	HepG2	liver
49	chr21:46822600-46823000	Enhancers	NHEK	skin
50	chr21:46822600-46823400	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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