Variant report

Variant	nsv1060002
Chromosome Location	chr21:48030333-48096945
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1141)
CpG islands
(count:2197)
Chromatin interactive
region (count:123)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1141 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr21:48054800-48055606	GM12878	blood:	n/a	n/a
2	ATF3	chr21:48055269-48055855	K562	blood:	n/a	n/a
3	ATF3	chr21:48055226-48055739	K562	blood:	n/a	chr21:48055237-48055245 chr21:48055268-48055277
4	ATF3	chr21:48055269-48055747	A549	lung:	n/a	n/a
5	ATF3	chr21:48055257-48055907	A549	lung:	n/a	chr21:48055268-48055277
6	ATF3	chr21:48081183-48081378	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF3	chr21:48054937-48055231	K562	blood:	n/a	n/a
8	BATF	chr21:48058236-48058618	GM12878	blood:	n/a	n/a
9	BATF	chr21:48058299-48058586	GM12878	blood:	n/a	n/a
10	BCL11A	chr21:48058286-48058514	GM12878	blood:	n/a	n/a
11	BCL11A	chr21:48058312-48058550	GM12878	blood:	n/a	n/a
12	BCL3	chr21:48084505-48084827	GM12878	blood:	n/a	n/a
13	BCL3	chr21:48084540-48084760	GM12878	blood:	n/a	n/a
14	BCLAF1	chr21:48054738-48055175	GM12878	blood:	n/a	n/a
15	BCLAF1	chr21:48081154-48081530	GM12878	blood:	n/a	n/a
16	CBX3	chr21:48054356-48056106	K562	blood:	n/a	n/a
17	CBX3	chr21:48075124-48075496	K562	blood:	n/a	n/a
18	CEBPB	chr21:48058257-48058541	K562	blood:	n/a	n/a
19	CEBPB	chr21:48047658-48048067	K562	blood:	n/a	n/a
20	CEBPB	chr21:48047791-48047968	K562	blood:	n/a	n/a
21	CEBPB	chr21:48064981-48065204	K562	blood:	n/a	n/a
22	CEBPD	chr21:48055110-48055815	HepG2	liver:	n/a	n/a
23	CEBPD	chr21:48087649-48087923	HepG2	liver:	n/a	n/a
24	CEBPD	chr21:48054859-48055913	K562	blood:	n/a	n/a
25	CREB1	chr21:48054806-48056067	H1-hESC	embryonic stem cell:	n/a	n/a
26	CREB1	chr21:48054844-48055240	ECC-1	luminal epithelium:	n/a	n/a
27	CREB1	chr21:48054821-48056265	HepG2	liver:	n/a	n/a
28	CREB1	chr21:48054804-48055837	H1-hESC	embryonic stem cell:	n/a	n/a
29	CREB1	chr21:48054788-48056180	GM12878	blood:	n/a	n/a
30	CREB1	chr21:48054978-48055140	A549	lung:	n/a	n/a
31	CREB1	chr21:48054848-48056254	K562	blood:	n/a	n/a
32	CREB1	chr21:48054800-48055327	ECC-1	luminal epithelium:	n/a	n/a
33	CREB1	chr21:48054940-48056118	A549	lung:	n/a	n/a
34	CREB1	chr21:48081058-48081481	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr21:48081200-48081350	AG04449	skin:	n/a	n/a
36	CTCF	chr21:48055040-48055190	SAEC	small airway:	n/a	chr21:48055091-48055107
37	CTCF	chr21:48055860-48056010	SK-N-SH_RA	brain:	n/a	n/a
38	CTCF	chr21:48081133-48081423	Medullo	brain:	n/a	n/a
39	CTCF	chr21:48081200-48081350	HUVEC	blood vessel:	n/a	n/a
40	CTCF	chr21:48059800-48059950	Caco-2	colon:	n/a	n/a
41	CTCF	chr21:48081180-48081330	HUVEC	blood vessel:	n/a	n/a
42	CTCF	chr21:48063436-48063565	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr21:48059800-48059950	BE2_C	brain:	n/a	n/a
44	CTCF	chr21:48055040-48055190	GM12875	blood:	n/a	chr21:48055091-48055107
45	CTCF	chr21:48065063-48065184	K562	blood:	n/a	n/a
46	CTCF	chr21:48054988-48055208	MCF-7	breast:	n/a	chr21:48055091-48055107
47	CTCF	chr21:48059800-48059950	AG09319	gingival:	n/a	n/a
48	CTCF	chr21:48054980-48055130	GM12872	blood:	n/a	chr21:48055091-48055107
49	CTCF	chr21:48059800-48059950	HCPEpiC	choroid plexus:	n/a	n/a
50	CTCF	chr21:48055000-48055150	AG04449	skin:	n/a	chr21:48055091-48055107

(count:2197 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:48054897-48054947	MCF-7	breast:	n/a
2	chr21:48054897-48054947	MCF-7	breast:	n/a
3	chr21:48088046-48088096	BJ	skin:	n/a
4	chr21:48081242-48081292	HNPCEpiC	eye:	n/a
5	chr21:48054563-48054613	HEEpiC	esophagus:	n/a
6	chr21:48055519-48055569	NHBE	bronchial:	n/a
7	chr21:48078809-48078859	A549	lung:	n/a
8	chr21:48055629-48055679	SK-N-SH	brain:	n/a
9	chr21:48082402-48082452	T-47D	breast:	n/a
10	chr21:48087452-48087502	ProgFib	skin:	n/a
11	chr21:48081686-48081736	SAEC	small airway:	n/a
12	chr21:48082402-48082452	AoSMC	blood vessel:	n/a
13	chr21:48088046-48088096	HMEC	breast:	n/a
14	chr21:48068638-48068688	AG10803	skin:	n/a
15	chr21:48088046-48088096	CMK	blood:	n/a
16	chr21:48087452-48087502	HEEpiC	esophagus:	n/a
17	chr21:48055224-48055274	SK-N-SH_RA	brain:	n/a
18	chr21:48056967-48057017	HL-60	blood:	n/a
19	chr21:48090508-48090558	NHDF-neo	bronchial:	n/a
20	chr21:48055629-48055679	HMEC	breast:	n/a
21	chr21:48084674-48084724	NHDF-neo	bronchial:	n/a
22	chr21:48081242-48081292	U87	brain:	n/a
23	chr21:48079700-48079750	GM12878	blood:	n/a
24	chr21:48068452-48068502	SKMC	muscle:	n/a
25	chr21:48090508-48090558	MCF10A-Er-Src	breast:	n/a
26	chr21:48084674-48084724	NH-A	brain:	n/a
27	chr21:48088046-48088096	HEK293	kidney:	embryo
28	chr21:48087452-48087502	HIPEpiC	eye:	n/a
29	chr21:48069229-48069279	CMK	blood:	n/a
30	chr21:48068638-48068688	HEEpiC	esophagus:	n/a
31	chr21:48054563-48054613	CMK	blood:	n/a
32	chr21:48055715-48055765	HRE	kidney:	n/a
33	chr21:48068748-48068798	ProgFib	skin:	n/a
34	chr21:48087589-48087639	PANC-1	pancreas:	n/a
35	chr21:48068748-48068798	NH-A	brain:	n/a
36	chr21:48055338-48055388	HCF	heart:	n/a
37	chr21:48068748-48068798	HRE	kidney:	n/a
38	chr21:48055715-48055765	HEEpiC	esophagus:	n/a
39	chr21:48055629-48055679	GM19239	blood:	n/a
40	chr21:48055338-48055388	HPAEpiC	pulmonary alveolar:	n/a
41	chr21:48054563-48054613	PANC-1	pancreas:	n/a
42	chr21:48055629-48055679	ECC-1	luminal epithelium:	n/a
43	chr21:48068748-48068798	NB4	blood:	n/a
44	chr21:48052757-48052807	NHBE	bronchial:	n/a
45	chr21:48069229-48069279	HUVEC	blood vessel:	n/a
46	chr21:48055893-48055943	HEEpiC	esophagus:	n/a
47	chr21:48090508-48090558	HEK293	kidney:	embryo
48	chr21:48087589-48087639	K562	blood:	n/a
49	chr21:48088150-48088200	HAEpiC	amniotic membrane:	n/a
50	chr21:48055519-48055569	SAEC	small airway:	n/a

(count:123 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr21:48066275..48067897-chr21:48072092..48074993,2	MCF-7	breast:
2	chr21:48055128..48057107-chr21:48067363..48069357,2	MCF-7	breast:
3	chr21:48054348..48057362-chr21:48062068..48064635,4	K562	blood:
4	chr21:48092221..48094129-chr21:48096913..48098673,2	MCF-7	breast:
5	chr21:48081818..48084383-chr21:48086010..48087998,2	MCF-7	breast:
6	chr21:48024458..48026156-chr21:48057416..48059802,2	K562	blood:
7	chr21:48059291..48062346-chr21:48062349..48064586,4	MCF-7	breast:
8	chr21:48053992..48056792-chr21:48084785..48087274,2	MCF-7	breast:
9	chr21:48045325..48047440-chr21:48054807..48056877,2	K562	blood:
10	chr10:2781607..2783125-chr21:48064505..48066265,2	MCF-7	breast:
11	chr17:25620789..25621556-chr21:48054884..48055505,2	Hela-S3	cervix:
12	chr21:48082813..48085393-chr21:48090322..48091989,3	MCF-7	breast:
13	chr12:133287222..133287841-chr21:48055027..48055792,2	NB4	blood:
14	chr21:48079857..48085039-chr21:48086180..48089656,6	K562	blood:
15	chr21:48059228..48062672-chr21:48065959..48068776,3	MCF-7	breast:
16	chr21:48061876..48063858-chr21:48067311..48068866,2	K562	blood:
17	chr21:47955411..47957434-chr21:48055066..48056738,2	K562	blood:
18	chr21:47877118..47880921-chr21:48053345..48058142,9	K562	blood:
19	chr21:48066570..48068825-chr21:48072683..48075681,2	K562	blood:
20	chr21:48028979..48030812-chr21:48051870..48054019,2	K562	blood:
21	chr21:48085636..48087391-chr21:48088276..48090254,2	K562	blood:
22	chr21:48053543..48058001-chr21:48077675..48082884,7	K562	blood:
23	chr21:48044131..48047004-chr21:48048003..48050751,2	MCF-7	breast:
24	chr21:48025522..48028149-chr21:48060514..48063166,2	MCF-7	breast:
25	chr21:48028979..48030812-chr21:48051870..48054019,2	K562	blood:
26	chr21:48081260..48084193-chr21:48084438..48088004,4	MCF-7	breast:
27	chr21:48042730..48044237-chr21:48044461..48046707,2	K562	blood:
28	chr21:48054236..48058001-chr21:48079083..48082780,4	K562	blood:
29	chr21:48086187..48087903-chr21:48090596..48092720,2	K562	blood:
30	chr21:48081260..48084193-chr21:48084438..48088004,4	MCF-7	breast:
31	chr17:75136430..75137196-chr21:48055351..48055948,2	Hela-S3	cervix:
32	chr21:48024544..48027148-chr21:48052838..48054939,2	K562	blood:
33	chr21:48062111..48065887-chr21:48068207..48070347,4	K562	blood:
34	chr21:48027694..48030453-chr21:48039157..48041006,2	MCF-7	breast:
35	chr21:48066242..48069643-chr21:48070010..48074183,7	K562	blood:
36	chr17:80250394..80251099-chr21:48055154..48055814,2	Hela-S3	cervix:
37	chr21:48066570..48068825-chr21:48072683..48075681,2	K562	blood:
38	chr1:207494972..207495556-chr21:48055180..48055885,2	Hela-S3	cervix:
39	chr21:48055128..48057107-chr21:48067363..48069357,2	MCF-7	breast:
40	chr21:48069459..48071150-chr21:48080115..48082921,2	MCF-7	breast:
41	chr21:47979038..47981600-chr21:48055778..48057959,2	MCF-7	breast:
42	chr21:48043562..48050060-chr21:48053506..48056859,7	MCF-7	breast:
43	chr21:48093992..48095617-chr21:48097456..48100225,2	K562	blood:
44	chr21:48076560..48080046-chr21:48082031..48085407,3	MCF-7	breast:
45	chr1:220445319..220445878-chr21:48055351..48056081,2	Hela-S3	cervix:
46	chr21:48054258..48057073-chr21:48079765..48082823,3	MCF-7	breast:
47	chr21:48054316..48057026-chr21:48067023..48068538,2	K562	blood:
48	chr21:47875258..47880014-chr21:48054452..48058643,10	K562	blood:
49	chr21:48044480..48047952-chr21:48055875..48058667,3	MCF-7	breast:
50	chr21:48092221..48094129-chr21:48096913..48098673,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DIP2A-5	chr21:48055527-48055675	NONHSAT083074
2	lnc-S100B-1	chr21:48073470-48073934	NONHSAT083076
3	lnc-DIP2A-5	chr21:48084207-48084862	NONHSAT083074

No data

Variant related genes	Relation type
DSTNP1	TF binding region
PRMT2	TF binding region
DSTNP1	CpG island
PRMT2	CpG island
ENSG00000256061	chromatin interactions
ENSG00000265692	chromatin interactions
ENSG00000230982	chromatin interactions
ENSG00000182362	chromatin interactions
ENSG00000160298	chromatin interactions
ENSG00000129003	chromatin interactions
ENSG00000160305	chromatin interactions
ENSG00000129657	chromatin interactions
ENSG00000247077	chromatin interactions
ENSG00000160307	chromatin interactions
ENSG00000214706	chromatin interactions
ENSG00000272283	chromatin interactions
ENSG00000259251	chromatin interactions
ENSG00000123358	chromatin interactions
ENSG00000118873	chromatin interactions
ENSG00000196352	chromatin interactions
ENSG00000160294	chromatin interactions
ENSG00000160285	chromatin interactions
ENSG00000204054	chromatin interactions
ENSG00000164330	chromatin interactions
ENSG00000166454	chromatin interactions
ENSG00000109046	chromatin interactions
ENSG00000215424	chromatin interactions
ENSG00000160310	chromatin interactions
ENSG00000263583	chromatin interactions
ENSG00000105699	chromatin interactions
ENSG00000231473	chromatin interactions
ENSG00000139687	chromatin interactions
ENSG00000260213	chromatin interactions
ENSG00000160299	chromatin interactions
ENSG00000170345	chromatin interactions
ENSG00000233224	chromatin interactions
ENSG00000197153	chromatin interactions
ENSG00000126070	chromatin interactions
ENSG00000261771	chromatin interactions
ENSG00000109790	chromatin interactions
ENSG00000202239	chromatin interactions
ENSG00000232065	chromatin interactions

Extended variants
information (count: 2771 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:2771 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562665283	chr21:48030346-48030347	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs529965166	chr21:48030356-48030357	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs75979247	chr21:48030396-48030397	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs376305972	chr21:48030398-48030399	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs545172832	chr21:48030412-48030413	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs145117654	chr21:48030431-48030432	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs368785358	chr21:48030432-48030433	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs9982863	chr21:48030465-48030466	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs11702240	chr21:48030487-48030488	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs189896174	chr21:48030498-48030499	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs150948537	chr21:48030502-48030503	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs559234600	chr21:48030506-48030507	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs140841674	chr21:48030515-48030516	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs11702243	chr21:48030537-48030538	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs543051464	chr21:48030576-48030577	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs4464358	chr21:48030617-48030618	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs554809475	chr21:48030652-48030653	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs113968169	chr21:48030696-48030697	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs540949802	chr21:48030735-48030736	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs11089082	chr21:48030754-48030755	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs72613658	chr21:48030820-48030821	Weak transcription Enhancers ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs544716474	chr21:48030845-48030846	Weak transcription Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs562975723	chr21:48030894-48030895	Weak transcription Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs529879718	chr21:48030914-48030915	Weak transcription Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs542064858	chr21:48030915-48030916	Weak transcription Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs560320784	chr21:48030916-48030917	Weak transcription Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs527573542	chr21:48031028-48031029	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs150128384	chr21:48031064-48031065	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs563921917	chr21:48031075-48031076	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs571590311	chr21:48031076-48031077	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs182523825	chr21:48031088-48031089	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs549424038	chr21:48031138-48031139	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs185614941	chr21:48031140-48031141	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs189282817	chr21:48031141-48031142	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs548353399	chr21:48031150-48031151	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs567088428	chr21:48031151-48031152	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs534219613	chr21:48031207-48031208	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs138652113	chr21:48031231-48031232	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs551562492	chr21:48031237-48031238	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs180912153	chr21:48031270-48031271	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs185279193	chr21:48031275-48031276	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs574963179	chr21:48031282-48031283	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs542374750	chr21:48031283-48031284	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs369680982	chr21:48031286-48031287	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs112639358	chr21:48031289-48031290	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs530875646	chr21:48031290-48031291	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs111693066	chr21:48031293-48031294	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs550592430	chr21:48031329-48031330	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs564414341	chr21:48031337-48031338	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs377344263	chr21:48031345-48031346	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:36)

Disease	PMID	Source
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	17899364	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	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 adenocarcinoma	17086460	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

Chromatin state (count:2764 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:48025800-48054800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr21:48026600-48030400	Weak transcription	Thymus	Thymus
3	chr21:48026600-48040000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr21:48026800-48040000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr21:48027600-48030400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr21:48027600-48030800	Flanking Active TSS	GM12878-XiMat	blood
7	chr21:48028000-48030400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr21:48029600-48031000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr21:48030000-48031000	Enhancers	Primary T cells fromperipheralblood	blood
10	chr21:48030000-48031000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr21:48030200-48030400	Flanking Active TSS	HepG2	liver
12	chr21:48030200-48030600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr21:48030200-48030600	Enhancers	Osteobl	bone
14	chr21:48030400-48030800	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
15	chr21:48030400-48031000	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
16	chr21:48030400-48031000	ZNF genes & repeats	Thymus	Thymus
17	chr21:48030400-48031000	Enhancers	HepG2	liver
18	chr21:48030800-48031000	Active TSS	GM12878-XiMat	blood
19	chr21:48030800-48039000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr21:48031000-48036200	Weak transcription	Thymus	Thymus
21	chr21:48031000-48039800	Weak transcription	HepG2	liver
22	chr21:48031000-48040000	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr21:48031000-48040000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr21:48034600-48039000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr21:48036000-48037400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr21:48036000-48037600	Enhancers	Primary T cells from cord blood	blood
27	chr21:48036000-48037600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr21:48036400-48041000	Weak transcription	Thymus	Thymus
29	chr21:48037000-48037600	Enhancers	Fetal Heart	heart
30	chr21:48037200-48037400	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr21:48037200-48046800	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr21:48037400-48037600	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr21:48037400-48038600	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr21:48037400-48040000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr21:48037600-48038800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr21:48037600-48039000	Weak transcription	Primary T cells from cord blood	blood
37	chr21:48037600-48039000	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr21:48038400-48041400	Weak transcription	Right Atrium	heart
39	chr21:48038600-48038800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr21:48038600-48038800	Enhancers	Brain Angular Gyrus	brain
41	chr21:48038600-48039600	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr21:48038600-48043400	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr21:48038800-48039600	Enhancers	Primary B cells from cord blood	blood
44	chr21:48038800-48040000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr21:48038800-48040000	Weak transcription	Brain Angular Gyrus	brain
46	chr21:48038800-48040800	Enhancers	Brain Substantia Nigra	brain
47	chr21:48038800-48049000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr21:48039000-48039200	Enhancers	Primary T cells from cord blood	blood
49	chr21:48039000-48039400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr21:48039000-48039600	Enhancers	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links