Variant report

Variant	nsv470900
Chromosome Location	chr21:40116044-40152372
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:557)
CpG islands
(count:1039)
Chromatin interactive
region (count:32)
LncRNA
region (count:21)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:557 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:40127694-40128174	HepG2	liver:	n/a	n/a
2	ARID3A	chr21:40119715-40120026	HepG2	liver:	n/a	n/a
3	ARID3A	chr21:40145329-40145397	HepG2	liver:	n/a	n/a
4	ATF1	chr21:40132422-40132621	K562	blood:	n/a	n/a
5	ATF2	chr21:40138982-40139801	GM12878	blood:	n/a	n/a
6	ATF2	chr21:40149376-40149885	GM12878	blood:	n/a	n/a
7	ATF2	chr21:40138963-40139770	GM12878	blood:	n/a	n/a
8	ATF2	chr21:40145173-40145529	GM12878	blood:	n/a	n/a
9	BATF	chr21:40145171-40145631	GM12878	blood:	n/a	n/a
10	BATF	chr21:40139078-40139381	GM12878	blood:	n/a	n/a
11	BATF	chr21:40145258-40145529	GM12878	blood:	n/a	n/a
12	BATF	chr21:40138996-40139651	GM12878	blood:	n/a	n/a
13	BCL11A	chr21:40145281-40145627	GM12878	blood:	n/a	chr21:40145429-40145438 chr21:40145430-40145439
14	BCLAF1	chr21:40138925-40139809	GM12878	blood:	n/a	chr21:40138942-40138951 chr21:40139272-40139281
15	BCLAF1	chr21:40138970-40139353	GM12878	blood:	n/a	chr21:40139272-40139281
16	BHLHE40	chr21:40140516-40140756	GM12878	blood:	n/a	n/a
17	BHLHE40	chr21:40127504-40127798	HepG2	liver:	n/a	n/a
18	BHLHE40	chr21:40131872-40132544	K562	blood:	n/a	chr21:40132242-40132251 chr21:40132236-40132257 chr21:40132242-40132251 chr21:40132240-40132253 chr21:40132243-40132252
19	BHLHE40	chr21:40138902-40139891	GM12878	blood:	n/a	n/a
20	BRCA1	chr21:40127583-40128066	Hela-S3	cervix:	n/a	n/a
21	CBX3	chr21:40138080-40138400	K562	blood:	n/a	n/a
22	CEBPB	chr21:40140611-40141059	IMR90	lung:	n/a	n/a
23	CEBPB	chr21:40152266-40152662	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr21:40127539-40127961	ECC-1	luminal epithelium:	n/a	chr21:40127903-40127916
25	CEBPB	chr21:40127607-40128292	HepG2	liver:	n/a	chr21:40127903-40127916
26	CEBPB	chr21:40143507-40143712	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr21:40145090-40145515	A549	lung:	n/a	n/a
28	CEBPB	chr21:40117262-40117387	IMR90	lung:	n/a	n/a
29	CEBPB	chr21:40144779-40145970	IMR90	lung:	n/a	n/a
30	CEBPB	chr21:40127595-40128310	Hela-S3	cervix:	n/a	chr21:40127903-40127916
31	CEBPB	chr21:40127591-40128302	A549	lung:	n/a	chr21:40127903-40127916
32	CEBPB	chr21:40127776-40128346	K562	blood:	n/a	chr21:40127903-40127916
33	CEBPB	chr21:40117314-40117427	HepG2	liver:	n/a	n/a
34	CEBPB	chr21:40128708-40128999	IMR90	lung:	n/a	n/a
35	CEBPB	chr21:40127678-40128314	A549	lung:	n/a	chr21:40127903-40127916
36	CEBPB	chr21:40127580-40128348	IMR90	lung:	n/a	chr21:40127903-40127916
37	CEBPB	chr21:40152147-40152595	HCT-116	colon:	n/a	n/a
38	CEBPB	chr21:40127712-40128135	H1-hESC	embryonic stem cell:	n/a	chr21:40127903-40127916
39	CEBPB	chr21:40141296-40141713	IMR90	lung:	n/a	n/a
40	CEBPB	chr21:40131944-40132125	IMR90	lung:	n/a	n/a
41	CEBPB	chr21:40127588-40127914	ECC-1	luminal epithelium:	n/a	n/a
42	CEBPB	chr21:40123847-40123852	HepG2	liver:	n/a	n/a
43	CEBPB	chr21:40152200-40152646	HCT-116	colon:	n/a	n/a
44	CEBPB	chr21:40127626-40128001	MCF-7	breast:	n/a	chr21:40127903-40127916
45	CEBPB	chr21:40144830-40145913	Hela-S3	cervix:	n/a	n/a
46	CHD1	chr21:40140405-40140446	GM12878	blood:	n/a	n/a
47	CHD1	chr21:40138937-40139604	GM12878	blood:	n/a	n/a
48	CHD2	chr21:40119417-40119592	K562	blood:	n/a	n/a
49	CHD2	chr21:40139020-40139751	GM12878	blood:	n/a	n/a
50	CHD2	chr21:40152305-40152540	Hela-S3	cervix:	n/a	n/a

(count:1039 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:40145949-40145999	ProgFib	skin:	n/a
2	chr21:40141809-40141859	AG04449	skin:	fetal
3	chr21:40145949-40145999	ProgFib	skin:	n/a
4	chr21:40141809-40141859	AG04449	skin:	fetal
5	chr21:40146149-40146199	LNCaP	prostate:	n/a
6	chr21:40145361-40145411	BE2_C	brain:	n/a
7	chr21:40125580-40125630	MCF-7	breast:	n/a
8	chr21:40141040-40141090	AG10803	skin:	n/a
9	chr21:40124363-40124413	HNPCEpiC	eye:	n/a
10	chr21:40124277-40124327	HPAEpiC	pulmonary alveolar:	n/a
11	chr21:40141040-40141090	AG04450	lung:	fetal
12	chr21:40146149-40146199	CMK	blood:	n/a
13	chr21:40141809-40141859	HRCEpiC	kidney:	n/a
14	chr21:40124308-40124358	AG10803	skin:	n/a
15	chr21:40146149-40146199	SK-N-SH_RA	brain:	n/a
16	chr21:40141809-40141859	HIPEpiC	eye:	n/a
17	chr21:40146149-40146199	MCF10A-Er-Src	breast:	n/a
18	chr21:40145361-40145411	AG04449	skin:	fetal
19	chr21:40145404-40145454	U87	brain:	n/a
20	chr21:40124277-40124327	BJ	skin:	n/a
21	chr21:40145361-40145411	HMEC	breast:	n/a
22	chr21:40124363-40124413	PFSK-1	brain:	n/a
23	chr21:40124848-40124898	HIPEpiC	eye:	n/a
24	chr21:40145404-40145454	Hela-S3	cervix:	n/a
25	chr21:40145404-40145454	A549	lung:	n/a
26	chr21:40145949-40145999	HRCEpiC	kidney:	n/a
27	chr21:40141809-40141859	ECC-1	luminal epithelium:	n/a
28	chr21:40145949-40145999	NB4	blood:	n/a
29	chr21:40145361-40145411	AG04450	lung:	fetal
30	chr21:40124277-40124327	HNPCEpiC	eye:	n/a
31	chr21:40123107-40123157	HIPEpiC	eye:	n/a
32	chr21:40141569-40141619	HRE	kidney:	n/a
33	chr21:40124363-40124413	NT2-D1	testis:	n/a
34	chr21:40124792-40124842	NHDF-neo	bronchial:	n/a
35	chr21:40124308-40124358	ECC-1	luminal epithelium:	n/a
36	chr21:40141756-40141806	HAEpiC	amniotic membrane:	n/a
37	chr21:40145404-40145454	BJ	skin:	n/a
38	chr21:40141569-40141619	NHBE	bronchial:	n/a
39	chr21:40125580-40125630	GM19239	blood:	n/a
40	chr21:40141756-40141806	PANC-1	pancreas:	n/a
41	chr21:40145404-40145454	ECC-1	luminal epithelium:	n/a
42	chr21:40141569-40141619	HCT-116	colon:	n/a
43	chr21:40124792-40124842	HPAEpiC	pulmonary alveolar:	n/a
44	chr21:40145949-40145999	HepG2	liver:	n/a
45	chr21:40125580-40125630	HCM	heart:	n/a
46	chr21:40124792-40124842	SK-N-SH	brain:	n/a
47	chr21:40145404-40145454	AG04449	skin:	fetal
48	chr21:40146149-40146199	SAEC	small airway:	n/a
49	chr21:40124363-40124413	IMR90	lung:	fetal
50	chr21:40145923-40145973	AG09319	gingival:	n/a

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:40151697..40154341-chr21:40177555..40180679,4	K562	blood:
2	chr21:40112842..40114709-chr21:40120595..40122740,2	K562	blood:
3	chr21:40140717..40143513-chr21:40158331..40160522,2	MCF-7	breast:
4	chr21:40124035..40126719-chr21:40139656..40141773,2	MCF-7	breast:
5	chr21:40147066..40150070-chr21:40150504..40153141,3	K562	blood:
6	chr21:40129051..40130983-chr21:40175842..40178311,2	K562	blood:
7	chr21:40147391..40149413-chr21:40156401..40158337,2	MCF-7	breast:
8	chr21:40123857..40126104-chr21:40126225..40128039,2	MCF-7	breast:
9	chr21:40139801..40142205-chr21:40143628..40147654,4	K562	blood:
10	chr21:40147066..40150070-chr21:40150504..40153141,3	K562	blood:
11	chr21:40139801..40142205-chr21:40143628..40147654,4	K562	blood:
12	chr21:40134770..40137394-chr21:40177383..40179634,2	K562	blood:
13	chr21:40123857..40126104-chr21:40126225..40128039,2	MCF-7	breast:
14	chr21:40116268..40119361-chr21:40123830..40126744,3	K562	blood:
15	chr21:40128876..40131323-chr21:40553802..40556244,2	K562	blood:
16	chr21:40116993..40119222-chr21:40177945..40180622,2	MCF-7	breast:
17	chr21:40127785..40129690-chr21:40154024..40156876,2	MCF-7	breast:
18	chr21:40124035..40126719-chr21:40139656..40141773,2	MCF-7	breast:
19	chr21:40119237..40120879-chr21:40122622..40125319,2	K562	blood:
20	chr21:40118598..40121434-chr21:40123073..40125443,2	MCF-7	breast:
21	chr21:40116268..40119361-chr21:40123830..40126744,3	K562	blood:
22	chr21:40130290..40133520-chr21:40176178..40179147,4	K562	blood:
23	chr21:40138076..40140463-chr21:40532005..40534792,2	MCF-7	breast:
24	chr21:40131381..40133556-chr21:40182644..40184229,2	K562	blood:
25	chr21:40145518..40147915-chr21:40158381..40160685,2	K562	blood:
26	chr21:40126380..40129299-chr21:40174705..40177451,3	MCF-7	breast:
27	chr21:40142694..40145286-chr21:40175526..40177363,2	K562	blood:
28	chr21:40151697..40154341-chr21:40177180..40179179,3	K562	blood:
29	chr21:40106344..40108151-chr21:40152083..40153978,2	MCF-7	breast:
30	chr21:40130024..40132037-chr21:40276501..40279158,2	K562	blood:
31	chr21:40127518..40129462-chr21:40170586..40172913,2	MCF-7	breast:
32	chr21:40131678..40133520-chr21:40176178..40178234,2	K562	blood:

(count:21 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ERG-2	chr21:40140771-40140898	NONHSAT082122
2	lnc-ERG-2	chr21:40145373-40145401	NONHSAT082118
3	lnc-ERG-2	chr21:40119321-40119384	XLOC_014073
4	lnc-ERG-2	chr21:40118223-40118340	XLOC_014073
5	lnc-ERG-2	chr21:40118223-40118340	XLOC_014073
6	lnc-ERG-2	chr21:40140771-40140898	XLOC_014073
7	lnc-ERG-2	chr21:40145373-40145401	NR_027065
8	lnc-ERG-2	chr21:40118223-40118342	XLOC_014073
9	lnc-ERG-2	chr21:40118223-40118340	XLOC_014073
10	lnc-ERG-2	chr21:40119321-40119384	NR_027065
11	lnc-ERG-2	chr21:40118223-40118340	NONHSAT082118
12	lnc-ERG-2	chr21:40118223-40118340	XLOC_014073
13	lnc-ERG-2	chr21:40145373-40145401	XLOC_014073
14	lnc-ERG-2	chr21:40124131-40124181	XLOC_014073
15	lnc-ERG-2	chr21:40140769-40140898	XLOC_014073
16	lnc-ERG-2	chr21:40119321-40119384	NONHSAT082118
17	lnc-ERG-2	chr21:40118223-40118340	XLOC_014073
18	lnc-ERG-2	chr21:40119321-40119384	XLOC_014073
19	lnc-ERG-2	chr21:40118223-40118340	NR_027065
20	lnc-ERG-2	chr21:40140771-40140898	XLOC_014073
21	lnc-ERG-2	chr21:40118223-40118342	NONHSAT082122

No data

Variant related genes	Relation type
LINC00114	TF binding region
LINC00114	CpG island
ENSG00000223806	chromatin interactions
ENSG00000183527	chromatin interactions
ENSG00000157557	chromatin interactions
TMX3	miRNA target sites
ENAH	miRNA target sites

Extended variants
information (count: 1332 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1332 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2836655	chr21:40116044-40116045	Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145111784	chr21:40116049-40116050	Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs370310111	chr21:40116059-40116060	Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs545195785	chr21:40116090-40116091	Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs551100361	chr21:40116108-40116109	Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs192944069	chr21:40116168-40116169	Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs527977753	chr21:40116276-40116277	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs547715684	chr21:40116302-40116303	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs567507108	chr21:40116312-40116313	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs568430326	chr21:40116353-40116354	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs73205541	chr21:40116404-40116405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556211891	chr21:40116439-40116440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79827801	chr21:40116447-40116448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77364277	chr21:40116448-40116449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111988129	chr21:40116470-40116471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183809776	chr21:40116493-40116494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531020953	chr21:40116515-40116516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188579845	chr21:40116577-40116578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370497570	chr21:40116724-40116725	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs138404763	chr21:40116801-40116802	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs180807662	chr21:40116840-40116841	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs549032734	chr21:40116855-40116856	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs183773705	chr21:40116885-40116886	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs190289404	chr21:40116933-40116934	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs368390014	chr21:40117069-40117070	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs111505699	chr21:40117086-40117087	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs542863978	chr21:40117098-40117099	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs562530710	chr21:40117126-40117127	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs531299207	chr21:40117246-40117247	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs201516686	chr21:40117295-40117296	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs112080724	chr21:40117296-40117297	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs545135922	chr21:40117297-40117298	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs567275075	chr21:40117348-40117349	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs528071870	chr21:40117349-40117350	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs555592753	chr21:40117363-40117364	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs546315891	chr21:40117389-40117390	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs571563087	chr21:40117391-40117392	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs527320246	chr21:40117394-40117395	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs547653450	chr21:40117411-40117412	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs561270589	chr21:40117445-40117446	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs368116697	chr21:40117545-40117546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530187092	chr21:40117568-40117569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549970297	chr21:40117602-40117603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs371675258	chr21:40117675-40117676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs143791746	chr21:40117676-40117677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146361350	chr21:40117685-40117686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182518437	chr21:40117719-40117720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs139081988	chr21:40117730-40117731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs140671773	chr21:40117774-40117775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs149320412	chr21:40117821-40117822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Breast cancer	21364760	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
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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:870 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40102600-40124800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr21:40111600-40116200	Enhancers	Fetal Intestine Large	intestine
3	chr21:40111600-40116400	Enhancers	Fetal Intestine Small	intestine
4	chr21:40113800-40119200	Weak transcription	Spleen	Spleen
5	chr21:40114000-40118800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr21:40114000-40119400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr21:40114200-40119000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr21:40114400-40119000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr21:40114400-40119000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr21:40115400-40116400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
11	chr21:40115400-40129600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr21:40115600-40116200	Bivalent Enhancer	Fetal Stomach	stomach
13	chr21:40115600-40116400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr21:40115600-40116400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr21:40115600-40116400	Enhancers	Lung	lung
16	chr21:40115800-40116200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr21:40115800-40116400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr21:40115800-40116400	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
19	chr21:40115800-40120600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr21:40116000-40116200	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr21:40116000-40116400	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr21:40116000-40116400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
23	chr21:40116000-40123800	Weak transcription	Adipose Nuclei	Adipose
24	chr21:40116200-40116400	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr21:40116200-40117600	Weak transcription	Fetal Intestine Large	intestine
26	chr21:40116400-40117800	Weak transcription	Fetal Intestine Small	intestine
27	chr21:40116400-40119400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr21:40116600-40116800	Enhancers	Fetal Muscle Trunk	muscle
29	chr21:40117600-40122600	Enhancers	Fetal Intestine Large	intestine
30	chr21:40117800-40118000	Enhancers	Fetal Intestine Small	intestine
31	chr21:40118000-40118400	Weak transcription	Fetal Intestine Small	intestine
32	chr21:40118400-40122000	Enhancers	Fetal Intestine Small	intestine
33	chr21:40118800-40119000	Enhancers	Aorta	Aorta
34	chr21:40118800-40119200	Enhancers	Small Intestine	intestine
35	chr21:40118800-40119600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr21:40119000-40119200	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr21:40119000-40119800	Enhancers	HepG2	liver
38	chr21:40119000-40120600	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr21:40119000-40121800	Enhancers	Duodenum Mucosa	Duodenum
40	chr21:40119000-40122000	Weak transcription	Aorta	Aorta
41	chr21:40119200-40119400	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr21:40119200-40120200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr21:40119200-40120200	Enhancers	Colonic Mucosa	Colon
44	chr21:40119200-40120200	Enhancers	Spleen	Spleen
45	chr21:40119200-40120400	Weak transcription	Small Intestine	intestine
46	chr21:40119400-40119600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
47	chr21:40119400-40120200	Enhancers	Pancreas	Pancrea
48	chr21:40119400-40120600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr21:40119400-40120800	Enhancers	Liver	Liver
50	chr21:40119400-40120800	Enhancers	Sigmoid Colon	Sigmoid Colon

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