Variant report

Variant	nsv1056683
Chromosome Location	chr21:40570023-40673210
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:40582224-40582266	K562	blood:	n/a	n/a
2	ARID3A	chr21:40580987-40581670	K562	blood:	n/a	n/a
3	ARID3A	chr21:40576116-40576341	HepG2	liver:	n/a	n/a
4	ATF1	chr21:40580881-40581207	K562	blood:	n/a	n/a
5	ATF1	chr21:40653096-40653113	K562	blood:	n/a	n/a
6	ATF3	chr21:40635384-40635655	K562	blood:	n/a	n/a
7	ATF3	chr21:40635321-40635834	HCT-116	colon:	n/a	n/a
8	ATF3	chr21:40580835-40581224	K562	blood:	n/a	n/a
9	BACH1	chr21:40653251-40653461	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr21:40580860-40581407	K562	blood:	n/a	n/a
11	BRCA1	chr21:40635354-40635700	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr21:40616505-40616716	IMR90	lung:	n/a	n/a
13	CEBPB	chr21:40576200-40576368	A549	lung:	n/a	chr21:40576308-40576321 chr21:40576310-40576321 chr21:40576308-40576321 chr21:40576310-40576319 chr21:40576308-40576319 chr21:40576308-40576321
14	CEBPB	chr21:40616462-40616780	HepG2	liver:	n/a	n/a
15	CEBPB	chr21:40635453-40635606	HepG2	liver:	n/a	chr21:40635531-40635542 chr21:40635559-40635570
16	CEBPB	chr21:40661103-40661306	HepG2	liver:	n/a	chr21:40661184-40661195 chr21:40661143-40661154
17	CEBPB	chr21:40635349-40635724	A549	lung:	n/a	chr21:40635531-40635542 chr21:40635559-40635570
18	CEBPB	chr21:40635346-40635742	IMR90	lung:	n/a	chr21:40635531-40635542 chr21:40635559-40635570
19	CEBPB	chr21:40640775-40640930	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr21:40576151-40576427	MCF-7	breast:	n/a	chr21:40576308-40576321 chr21:40576310-40576321 chr21:40576308-40576321 chr21:40576310-40576319 chr21:40576308-40576319 chr21:40576308-40576321
21	CEBPB	chr21:40576162-40576438	K562	blood:	n/a	chr21:40576308-40576321 chr21:40576310-40576321 chr21:40576308-40576321 chr21:40576310-40576319 chr21:40576308-40576319 chr21:40576308-40576321
22	CEBPB	chr21:40619331-40619461	HepG2	liver:	n/a	chr21:40619432-40619443
23	CEBPB	chr21:40635154-40635832	HCT-116	colon:	n/a	chr21:40635531-40635542 chr21:40635559-40635570
24	CEBPB	chr21:40576168-40576446	HepG2	liver:	n/a	chr21:40576308-40576321 chr21:40576310-40576321 chr21:40576308-40576321 chr21:40576310-40576319 chr21:40576308-40576319 chr21:40576308-40576321
25	CEBPB	chr21:40593791-40593881	H1-hESC	embryonic stem cell:	n/a	n/a
26	CEBPB	chr21:40619402-40619462	IMR90	lung:	n/a	chr21:40619432-40619443
27	CEBPB	chr21:40661054-40661250	IMR90	lung:	n/a	chr21:40661184-40661195 chr21:40661143-40661154
28	CEBPB	chr21:40635361-40635729	HepG2	liver:	n/a	chr21:40635531-40635542 chr21:40635559-40635570
29	CEBPB	chr21:40635401-40635676	H1-hESC	embryonic stem cell:	n/a	chr21:40635531-40635542 chr21:40635559-40635570
30	CEBPB	chr21:40635325-40635750	MCF-7	breast:	n/a	chr21:40635531-40635542 chr21:40635559-40635570
31	CEBPB	chr21:40635348-40635738	K562	blood:	n/a	chr21:40635531-40635542 chr21:40635559-40635570
32	CEBPB	chr21:40635390-40635663	HepG2	liver:	n/a	chr21:40635531-40635542 chr21:40635559-40635570
33	CEBPB	chr21:40635344-40635693	MCF-7	breast:	n/a	chr21:40635531-40635542 chr21:40635559-40635570
34	CEBPB	chr21:40661032-40661260	K562	blood:	n/a	chr21:40661184-40661195 chr21:40661143-40661154
35	CEBPB	chr21:40576184-40576426	IMR90	lung:	n/a	chr21:40576308-40576321 chr21:40576310-40576321 chr21:40576308-40576321 chr21:40576310-40576319 chr21:40576308-40576319 chr21:40576308-40576321
36	CEBPB	chr21:40661104-40661186	A549	lung:	n/a	chr21:40661143-40661154
37	CEBPB	chr21:40635307-40635713	K562	blood:	n/a	chr21:40635531-40635542 chr21:40635559-40635570
38	CEBPB	chr21:40592951-40593075	A549	lung:	n/a	n/a
39	CEBPB	chr21:40636275-40636293	K562	blood:	n/a	n/a
40	CEBPB	chr21:40635197-40635864	HCT-116	colon:	n/a	chr21:40635531-40635542 chr21:40635559-40635570
41	CEBPB	chr21:40635346-40635748	Hela-S3	cervix:	n/a	chr21:40635531-40635542 chr21:40635559-40635570
42	CEBPB	chr21:40635465-40635725	ECC-1	luminal epithelium:	n/a	chr21:40635531-40635542 chr21:40635559-40635570
43	CEBPB	chr21:40619429-40619504	K562	blood:	n/a	chr21:40619432-40619443
44	CEBPB	chr21:40635358-40635641	K562	blood:	n/a	chr21:40635531-40635542 chr21:40635559-40635570
45	CEBPB	chr21:40635258-40635769	A549	lung:	n/a	chr21:40635531-40635542 chr21:40635559-40635570
46	CEBPB	chr21:40593010-40593076	K562	blood:	n/a	n/a
47	CEBPB	chr21:40635347-40635725	A549	lung:	n/a	chr21:40635531-40635542 chr21:40635559-40635570
48	CTCF	chr21:40576100-40576250	HUVEC	blood vessel:	n/a	n/a
49	CTCF	chr21:40576180-40576330	GM12872	blood:	n/a	n/a
50	CTCF	chr21:40576080-40576230	AG04450	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:40669669-40669719	ovcar-3	ovarian:	n/a
2	chr21:40669669-40669719	GM19239	blood:	n/a
3	chr21:40669669-40669719	HIPEpiC	eye:	n/a
4	chr21:40669669-40669719	GM12892	blood:	n/a
5	chr21:40669669-40669719	AG09309	skin:	n/a
6	chr21:40669669-40669719	NB4	blood:	n/a
7	chr21:40669669-40669719	PrEC	prostate:	n/a
8	chr21:40669669-40669719	H1-hESC	embryonic stem cell:	embryo
9	chr21:40669669-40669719	HL-60	blood:	n/a
10	chr21:40669669-40669719	HRE	kidney:	n/a
11	chr21:40669669-40669719	BJ	skin:	n/a
12	chr21:40669669-40669719	A549	lung:	n/a
13	chr21:40669669-40669719	GM12891	blood:	n/a
14	chr21:40669669-40669719	SKMC	muscle:	n/a
15	chr21:40669669-40669719	NT2-D1	testis:	n/a
16	chr21:40669669-40669719	HAEpiC	amniotic membrane:	n/a
17	chr21:40669669-40669719	SK-N-SH_RA	brain:	n/a
18	chr21:40669669-40669719	HRPEpiC	eye:	n/a
19	chr21:40669669-40669719	BE2_C	brain:	n/a
20	chr21:40669669-40669719	ProgFib	skin:	n/a
21	chr21:40669669-40669719	Hepatocyte	liver:	n/a
22	chr21:40669669-40669719	IMR90	lung:	fetal
23	chr21:40669669-40669719	HCM	heart:	n/a
24	chr21:40669669-40669719	HCPEpiC	choroid plexus:	n/a
25	chr21:40669669-40669719	MCF-7	breast:	n/a
26	chr21:40669669-40669719	HRCEpiC	kidney:	n/a
27	chr21:40669669-40669719	NHDF-neo	bronchial:	n/a
28	chr21:40669669-40669719	GM06990	blood:	n/a
29	chr21:40669669-40669719	HEEpiC	esophagus:	n/a
30	chr21:40669669-40669719	AoSMC	blood vessel:	n/a
31	chr21:40669669-40669719	HCF	heart:	n/a
32	chr21:40669669-40669719	Caco-2	colon:	n/a
33	chr21:40669669-40669719	ECC-1	luminal epithelium:	n/a
34	chr21:40669669-40669719	Jurkat	blood:	n/a
35	chr21:40669669-40669719	NH-A	brain:	n/a
36	chr21:40669669-40669719	RPTEC	kidney:	n/a
37	chr21:40669669-40669719	PANC-1	pancreas:	n/a
38	chr21:40669669-40669719	HPAEpiC	pulmonary alveolar:	n/a
39	chr21:40669669-40669719	Hela-S3	cervix:	n/a
40	chr21:40669669-40669719	HUVEC	blood vessel:	n/a
41	chr21:40669669-40669719	HMEC	breast:	n/a
42	chr21:40669669-40669719	SK-N-MC	brain:	n/a
43	chr21:40669669-40669719	HNPCEpiC	eye:	n/a
44	chr21:40669669-40669719	MCF10A-Er-Src	breast:	n/a
45	chr21:40669669-40669719	HEK293	kidney:	embryo
46	chr21:40669669-40669719	AG09319	gingival:	n/a
47	chr21:40669669-40669719	AG04450	lung:	fetal
48	chr21:40669669-40669719	NHBE	bronchial:	n/a
49	chr21:40669669-40669719	CMK	blood:	n/a
50	chr21:40669669-40669719	HCT-116	colon:	n/a

No.	Distal block	Cell Line	Cell type
1	21:40671591-40673895..21:40757151-40764378	GM12878	blood:
2	chr21:40595422..40597101-chr21:40606197..40608970,2	K562	blood:
3	chr21:40666937..40669991-chr21:40672116..40674107,3	MCF-7	breast:
4	chr21:40671119..40673164-chr21:40679954..40681992,2	K562	blood:
5	chr21:40580653..40582501-chr21:40817931..40820372,2	K562	blood:
6	chr21:40596378..40598646-chr21:40599484..40601519,2	K562	blood:
7	chr21:40643299..40646158-chr21:40759123..40761146,2	MCF-7	breast:
8	chr21:40633679..40635418-chr21:40692095..40693718,2	MCF-7	breast:
9	chr21:40584624..40587593-chr21:40591669..40593953,3	K562	blood:
10	chr21:40650689..40652443-chr21:40655865..40658583,2	K562	blood:
11	chr21:40598258..40599808-chr21:40617335..40620196,2	K562	blood:
12	chr21:40554978..40557232-chr21:40568247..40570780,2	K562	blood:
13	chr21:40651059..40652643-chr21:40657683..40660235,2	MCF-7	breast:
14	chr21:40663279..40665811-chr21:40674696..40676596,2	K562	blood:
15	chr21:40652004..40654564-chr21:40716456..40719134,2	MCF-7	breast:
16	chr21:40655951..40658802-chr21:40684574..40686676,3	K562	blood:
17	21:40583765-40590917..21:40718004-40719183	GM12878	blood:
18	chr21:40630054..40632620-chr21:40683749..40686238,3	MCF-7	breast:
19	chr21:40583924..40586852-chr21:40588522..40591681,4	MCF-7	breast:
20	chr21:40646008..40647580-chr21:40650509..40652567,2	MCF-7	breast:
21	chr21:40571864..40573704-chr21:40576898..40579781,2	K562	blood:
22	chr21:40553804..40556264-chr21:40663046..40664609,3	K562	blood:
23	chr21:40581504..40583471-chr21:40586108..40588816,2	MCF-7	breast:
24	chr21:40589600..40591908-chr21:40602305..40604047,2	K562	blood:
25	chr21:40598258..40599808-chr21:40617335..40620196,2	K562	blood:
26	chr21:40608675..40611131-chr21:40611181..40613899,2	K562	blood:
27	chr21:40567883..40570604-chr21:40683967..40686852,3	K562	blood:
28	chr21:40555075..40556681-chr21:40622988..40625845,2	K562	blood:
29	chr21:40649663..40652443-chr21:40657083..40659080,2	K562	blood:
30	chr21:40650245..40652067-chr21:40661600..40663535,2	MCF-7	breast:
31	chr21:40602448..40605045-chr21:40605736..40607319,2	K562	blood:
32	chr21:40631854..40634672-chr21:40643300..40644841,2	MCF-7	breast:
33	chr21:40592903..40594830-chr21:40600415..40602251,2	MCF-7	breast:
34	chr21:40554651..40557222-chr21:40599686..40602201,3	K562	blood:
35	chr21:40632394..40633950-chr21:40634742..40636746,2	MCF-7	breast:
36	chr21:40574695..40577813-chr21:40579621..40584653,4	K562	blood:
37	21:40583765-40590917..21:40796857-40798340	Hela-S3	cervix:
38	chr21:40574233..40577132-chr21:40589410..40591916,2	MCF-7	breast:
39	chr21:40575750..40576363-chr21:40760622..40761131,2	MCF-7	breast:
40	chr21:40665688..40667750-chr21:40683935..40686161,2	K562	blood:
41	chr21:40635414..40638745-chr21:40717382..40720310,3	K562	blood:
42	chr21:40604603..40606220-chr21:40613422..40615728,2	K562	blood:
43	chr21:40582888..40584633-chr21:40585013..40587494,2	MCF-7	breast:
44	chr21:40648055..40650065-chr21:40719933..40722440,3	MCF-7	breast:
45	chr21:40579851..40582767-chr21:40583225..40585456,3	K562	blood:
46	chr21:40661393..40663465-chr21:40683759..40685454,2	K562	blood:
47	chr21:40659858..40663971-chr21:40719417..40722470,4	MCF-7	breast:
48	chr21:40586470..40588300-chr21:40610304..40612724,2	K562	blood:
49	chr21:40598000..40600070-chr21:40608365..40610635,2	K562	blood:
50	21:40595367-40598507..21:40748850-40752541	Hela-S3	cervix:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PSMG1-1	chr21:40591328-40591731	ENSG00000237373.1
2	lnc-WRB-6	chr21:40588550-40588709	NONHSAT082155
3	lnc-PSMG1-1	chr21:40589019-40589103	ENSG00000237373.1
4	lnc-WRB-6	chr21:40589327-40589432	NONHSAT082155

No.	miRNA target gene	miRNA name	Chromosome Location
1	BRWD1	hsa-miR-106b-5p	chr21:40668523-40668543
2	BRWD1	hsa-miR-15a-5p	chr21:40669078-40669100
3	BRWD1	hsa-miR-15a-5p	chr21:40668479-40668499
4	BRWD1	hsa-miR-192-5p	chr21:40669023-40669043

Variant related genes	Relation type
BRWD1-IT1	TF binding region
BRWD1	TF binding region
TIMM9P2	TF binding region
METTL21AP1	TF binding region
BRWD1-IT1	CpG island
BRWD1	CpG island
TIMM9P2	CpG island
METTL21AP1	CpG island
ENSG00000238556	chromatin interactions
ENSG00000255559	chromatin interactions
ENSG00000252915	chromatin interactions
ENSG00000185437	chromatin interactions
ENSG00000232608	chromatin interactions
ENSG00000205581	chromatin interactions
ENSG00000227406	chromatin interactions
ENSG00000272991	chromatin interactions
ENSG00000237373	chromatin interactions
ENSG00000183527	chromatin interactions
ENSG00000157578	chromatin interactions
ENSG00000185658	chromatin interactions
ENSG00000182093	chromatin interactions
ENSG00000229623	chromatin interactions
ENSG00000196922	chromatin interactions
ENSG00000255568	chromatin interactions
ENSG00000238141	chromatin interactions

Extended variants
information (count: 4292 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:4292 , 50 per page) page: 1 2 3 4 5 6 7 ... 86

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541208763	chr21:40570063-40570064	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs558419207	chr21:40570146-40570147	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs572213355	chr21:40570227-40570228	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs534469796	chr21:40570234-40570235	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs138277964	chr21:40570253-40570254	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs574412963	chr21:40570297-40570298	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs7282029	chr21:40570309-40570310	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs375058749	chr21:40570311-40570312	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs563304651	chr21:40570441-40570442	Weak transcription Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs113927855	chr21:40570453-40570454	Weak transcription Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs527779936	chr21:40570459-40570460	Weak transcription Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs143852078	chr21:40570507-40570508	Weak transcription Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs559757486	chr21:40570524-40570525	Weak transcription Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs111740574	chr21:40570545-40570546	Weak transcription Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs552615289	chr21:40570594-40570595	Weak transcription Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs551036957	chr21:40570604-40570605	Weak transcription Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs138172161	chr21:40570607-40570608	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs528689301	chr21:40570614-40570615	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs548466591	chr21:40570648-40570649	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs200242315	chr21:40570682-40570683	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs530947612	chr21:40570700-40570701	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs143588079	chr21:40570713-40570714	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs368095694	chr21:40570727-40570728	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs118147046	chr21:40570737-40570738	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs570551503	chr21:40570763-40570764	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs147211854	chr21:40570769-40570770	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs369981776	chr21:40570779-40570780	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs2234547	chr21:40570830-40570831	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs190301905	chr21:40570861-40570862	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs371029008	chr21:40570862-40570863	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs370809930	chr21:40570865-40570866	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs113760569	chr21:40570890-40570891	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs373690192	chr21:40570910-40570911	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs141349834	chr21:40570912-40570913	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs376668199	chr21:40570913-40570914	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs370679811	chr21:40570942-40570943	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs186057504	chr21:40570959-40570960	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs117580155	chr21:40570963-40570964	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs375041693	chr21:40570964-40570965	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs367974255	chr21:40570975-40570976	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs146953324	chr21:40570998-40570999	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs537193580	chr21:40571009-40571010	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs202178838	chr21:40571019-40571020	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs138058799	chr21:40571063-40571064	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs576918695	chr21:40571071-40571072	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs373655410	chr21:40571073-40571074	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs545770926	chr21:40571074-40571075	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs560017316	chr21:40571091-40571092	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs573424793	chr21:40571097-40571098	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs368920188	chr21:40571107-40571108	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

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 myeloid leukemia	20729466	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
Down syndrome	20877625	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Prostate cancer	21147910	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:2834 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40556200-40570200	Weak transcription	Stomach Mucosa	stomach
2	chr21:40556200-40570800	Weak transcription	Small Intestine	intestine
3	chr21:40556200-40571000	Weak transcription	Lung	lung
4	chr21:40556200-40571200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr21:40556200-40576600	Weak transcription	Esophagus	oesophagus
6	chr21:40556200-40576600	Weak transcription	Pancreas	Pancrea
7	chr21:40556200-40602600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr21:40556400-40571000	Weak transcription	Ovary	ovary
9	chr21:40556600-40570400	Weak transcription	Colonic Mucosa	Colon
10	chr21:40556600-40571000	Weak transcription	Fetal Stomach	stomach
11	chr21:40556600-40576600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr21:40557000-40570600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr21:40560400-40570800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr21:40563000-40640600	Strong transcription	Placenta	Placenta
15	chr21:40563000-40643600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr21:40563200-40581000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr21:40563400-40653400	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr21:40563400-40660000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr21:40563600-40575200	Strong transcription	HSMM	muscle
20	chr21:40563600-40588600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr21:40563600-40653600	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr21:40563800-40575400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr21:40564600-40612600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr21:40564800-40587800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr21:40565000-40581200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr21:40565000-40592600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr21:40565000-40654600	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr21:40565200-40579000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr21:40565200-40653600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr21:40565400-40571000	Strong transcription	Osteobl	bone
31	chr21:40565400-40571400	Strong transcription	Brain Hippocampus Middle	brain
32	chr21:40565400-40574600	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr21:40565400-40575400	Strong transcription	Primary hematopoietic stem cells	blood
34	chr21:40565400-40580800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr21:40565400-40604200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr21:40565400-40612600	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr21:40565400-40653600	Strong transcription	Dnd41	blood
38	chr21:40565600-40585600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr21:40565600-40590200	Strong transcription	Liver	Liver
40	chr21:40565600-40615000	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr21:40565800-40580600	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr21:40565800-40581400	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr21:40565800-40590600	Strong transcription	Fetal Thymus	thymus
44	chr21:40566000-40571200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr21:40566000-40573800	Strong transcription	Fetal Brain Female	brain
46	chr21:40566000-40574600	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr21:40566000-40575000	Strong transcription	Primary B cells from peripheral blood	blood
48	chr21:40566000-40575200	Strong transcription	Duodenum Mucosa	Duodenum
49	chr21:40566000-40653600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr21:40566200-40571400	Strong transcription	Brain Anterior Caudate	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links