Variant report

Variant	nsv546445
Chromosome Location	chr1:67479598-67689036
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2911)
CpG islands
(count:2627)
Chromatin interactive
region (count:125)
LncRNA
region (count:27)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2911 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:67521713-67521758	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:67659619-67659685	K562	blood:	n/a	n/a
3	ARID3A	chr1:67519418-67520259	HepG2	liver:	n/a	chr1:67519639-67519647
4	ARID3A	chr1:67628723-67628906	K562	blood:	n/a	n/a
5	ARID3A	chr1:67568179-67568416	K562	blood:	n/a	n/a
6	ARID3A	chr1:67610363-67610693	K562	blood:	n/a	n/a
7	ARID3A	chr1:67598888-67599189	K562	blood:	n/a	chr1:67598965-67598981
8	ARID3A	chr1:67518122-67518189	K562	blood:	n/a	n/a
9	ARID3A	chr1:67637355-67637358	K562	blood:	n/a	n/a
10	ARID3A	chr1:67607315-67607754	K562	blood:	n/a	n/a
11	ARID3A	chr1:67635465-67635943	HepG2	liver:	n/a	n/a
12	ARID3A	chr1:67656645-67658163	K562	blood:	n/a	n/a
13	ARID3A	chr1:67610445-67610596	HepG2	liver:	n/a	n/a
14	ARID3A	chr1:67614928-67615146	HepG2	liver:	n/a	n/a
15	ARID3A	chr1:67677411-67677538	K562	blood:	n/a	n/a
16	ARID3A	chr1:67523980-67524398	HepG2	liver:	n/a	n/a
17	ATF1	chr1:67657379-67658139	K562	blood:	n/a	n/a
18	ATF1	chr1:67485730-67485784	K562	blood:	n/a	n/a
19	ATF1	chr1:67526494-67526760	K562	blood:	n/a	n/a
20	ATF1	chr1:67592176-67592449	K562	blood:	n/a	n/a
21	ATF1	chr1:67555677-67555833	K562	blood:	n/a	n/a
22	ATF1	chr1:67656730-67656901	K562	blood:	n/a	n/a
23	ATF1	chr1:67673094-67673323	K562	blood:	n/a	n/a
24	ATF2	chr1:67631737-67632279	GM12878	blood:	n/a	n/a
25	ATF2	chr1:67578090-67578663	GM12878	blood:	n/a	n/a
26	ATF2	chr1:67660101-67660715	GM12878	blood:	n/a	n/a
27	ATF2	chr1:67628574-67628974	GM12878	blood:	n/a	n/a
28	ATF2	chr1:67680403-67680932	GM12878	blood:	n/a	n/a
29	ATF2	chr1:67637193-67638222	GM12878	blood:	n/a	n/a
30	ATF2	chr1:67506092-67506444	H1-hESC	embryonic stem cell:	n/a	n/a
31	ATF2	chr1:67631760-67632326	GM12878	blood:	n/a	n/a
32	ATF2	chr1:67519532-67520135	GM12878	blood:	n/a	chr1:67519670-67519684
33	ATF2	chr1:67660167-67660591	GM12878	blood:	n/a	n/a
34	ATF2	chr1:67637237-67638138	GM12878	blood:	n/a	n/a
35	ATF2	chr1:67628561-67629007	GM12878	blood:	n/a	n/a
36	ATF3	chr1:67628601-67629028	K562	blood:	n/a	n/a
37	BACH1	chr1:67563094-67563309	H1-hESC	embryonic stem cell:	n/a	n/a
38	BACH1	chr1:67657401-67657762	K562	blood:	n/a	n/a
39	BACH1	chr1:67510999-67511009	H1-hESC	embryonic stem cell:	n/a	n/a
40	BATF	chr1:67624880-67625275	GM12878	blood:	n/a	chr1:67625115-67625126
41	BATF	chr1:67680492-67680830	GM12878	blood:	n/a	n/a
42	BATF	chr1:67631800-67632247	GM12878	blood:	n/a	chr1:67632018-67632027
43	BATF	chr1:67631328-67631606	GM12878	blood:	n/a	n/a
44	BATF	chr1:67631842-67632208	GM12878	blood:	n/a	chr1:67632018-67632027
45	BATF	chr1:67637203-67637420	GM12878	blood:	n/a	n/a
46	BATF	chr1:67660212-67660414	GM12878	blood:	n/a	n/a
47	BATF	chr1:67628675-67629039	GM12878	blood:	n/a	chr1:67628846-67628857
48	BATF	chr1:67637467-67638069	GM12878	blood:	n/a	chr1:67638039-67638049 chr1:67638043-67638053
49	BATF	chr1:67641233-67641477	GM12878	blood:	n/a	chr1:67641364-67641375
50	BATF	chr1:67628566-67629084	GM12878	blood:	n/a	chr1:67628846-67628857

(count:2627 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:67594274-67594324	AG04450	lung:	fetal
2	chr1:67603174-67603224	HRE	kidney:	n/a
3	chr1:67550316-67550366	HNPCEpiC	eye:	n/a
4	chr1:67518745-67518795	Hepatocyte	liver:	n/a
5	chr1:67594274-67594324	AG04450	lung:	fetal
6	chr1:67603174-67603224	HRE	kidney:	n/a
7	chr1:67550316-67550366	HNPCEpiC	eye:	n/a
8	chr1:67518745-67518795	Hepatocyte	liver:	n/a
9	chr1:67550316-67550366	HRCEpiC	kidney:	n/a
10	chr1:67600547-67600597	ProgFib	skin:	n/a
11	chr1:67519805-67519855	HCM	heart:	n/a
12	chr1:67600835-67600885	Jurkat	blood:	n/a
13	chr1:67600687-67600737	NHDF-neo	bronchial:	n/a
14	chr1:67600229-67600279	SK-N-SH_RA	brain:	n/a
15	chr1:67519155-67519205	PANC-1	pancreas:	n/a
16	chr1:67518911-67518961	GM12878	blood:	n/a
17	chr1:67519677-67519727	PANC-1	pancreas:	n/a
18	chr1:67594820-67594870	GM06990	blood:	n/a
19	chr1:67515873-67515923	HCT-116	colon:	n/a
20	chr1:67636724-67636774	AG09309	skin:	n/a
21	chr1:67613911-67613961	Hela-S3	cervix:	n/a
22	chr1:67600428-67600478	GM19239	blood:	n/a
23	chr1:67600311-67600361	HIPEpiC	eye:	n/a
24	chr1:67550316-67550366	HCM	heart:	n/a
25	chr1:67518745-67518795	SKMC	muscle:	n/a
26	chr1:67600687-67600737	K562	blood:	n/a
27	chr1:67613911-67613961	HIPEpiC	eye:	n/a
28	chr1:67600311-67600361	NHBE	bronchial:	n/a
29	chr1:67521487-67521537	T-47D	breast:	n/a
30	chr1:67600835-67600885	SAEC	small airway:	n/a
31	chr1:67600229-67600279	AG09319	gingival:	n/a
32	chr1:67597928-67597978	NB4	blood:	n/a
33	chr1:67632028-67632078	AG04449	skin:	fetal
34	chr1:67550295-67550345	GM06990	blood:	n/a
35	chr1:67518745-67518795	CMK	blood:	n/a
36	chr1:67550316-67550366	K562	blood:	n/a
37	chr1:67600229-67600279	HPAEpiC	pulmonary alveolar:	n/a
38	chr1:67603174-67603224	HCF	heart:	n/a
39	chr1:67594820-67594870	MCF-7	breast:	n/a
40	chr1:67520352-67520402	HepG2	liver:	n/a
41	chr1:67631214-67631264	BJ	skin:	n/a
42	chr1:67550295-67550345	Hela-S3	cervix:	n/a
43	chr1:67519155-67519205	SK-N-SH	brain:	n/a
44	chr1:67636724-67636774	RPTEC	kidney:	n/a
45	chr1:67504848-67504898	HEK293	kidney:	embryo
46	chr1:67550316-67550366	SK-N-SH_RA	brain:	n/a
47	chr1:67613911-67613961	AG04450	lung:	fetal
48	chr1:67504848-67504898	HEEpiC	esophagus:	n/a
49	chr1:67594788-67594838	ovcar-3	ovarian:	n/a
50	chr1:67594788-67594838	HCF	heart:	n/a

(count:125 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr1:67521487..67523144-chr1:67524256..67526515,2	MCF-7	breast:
2	chr1:67665151..67667575-chr1:67673841..67675978,2	K562	blood:
3	chr1:67511473..67513782-chr1:67612631..67614927,2	K562	blood:
4	chr1:67527439..67529751-chr1:67536088..67538799,2	K562	blood:
5	chr1:67518927..67521401-chr1:67554492..67557377,2	K562	blood:
6	chr1:67518211..67520667-chr1:67520838..67523513,2	K562	blood:
7	chr1:67504793..67508211-chr1:67516570..67521149,6	K562	blood:
8	chr1:67519252..67520167-chr3:31573896..31574531,2	Hela-S3	cervix:
9	chr1:67635692..67638633-chr1:67640217..67642877,2	K562	blood:
10	chr1:67521309..67523431-chr1:67671831..67673654,2	K562	blood:
11	chr1:67679065..67681953-chr1:67685374..67687450,2	K562	blood:
12	chr1:67686041..67688763-chr1:67690421..67691937,2	K562	blood:
13	chr1:67534953..67536939-chr1:67542971..67545169,2	K562	blood:
14	chr1:67674967..67676923-chr1:67679783..67682791,3	K562	blood:
15	chr1:67661843..67663731-chr1:67665893..67668287,2	K562	blood:
16	chr1:67461442..67462591-chr1:67614219..67615531,23	MCF-7	breast:
17	chr1:67635692..67638633-chr1:67640217..67642877,2	K562	blood:
18	chr1:67596003..67598773-chr1:67600680..67602340,2	K562	blood:
19	chr1:67660985..67663037-chr1:67673311..67676218,2	K562	blood:
20	chr1:67461556..67462385-chr1:67677067..67677923,2	MCF-7	breast:
21	chr1:67561173..67563270-chr1:67569179..67571534,2	K562	blood:
22	chr1:67521996..67524629-chr1:67527546..67529819,2	MCF-7	breast:
23	chr1:67519291..67521564-chr1:67675804..67678204,2	K562	blood:
24	chr1:67555800..67558037-chr1:67566353..67568285,2	K562	blood:
25	chr1:67480216..67482250-chr1:67485529..67487102,2	K562	blood:
26	chr1:67507302..67509909-chr1:67517359..67519557,2	MCF-7	breast:
27	chr1:67660985..67663037-chr1:67673311..67676218,2	K562	blood:
28	chr1:67509294..67511950-chr1:67512459..67514669,2	K562	blood:
29	chr1:67595628..67598773-chr1:67600680..67602546,3	K562	blood:
30	chr1:67651480..67652996-chr1:67655707..67657594,2	K562	blood:
31	chr1:67482953..67486584-chr1:67495680..67498611,3	K562	blood:
32	chr1:67482953..67486584-chr1:67495680..67498611,3	K562	blood:
33	chr1:67519615..67522189-chr1:67541545..67543719,2	MCF-7	breast:
34	chr1:67521996..67524629-chr1:67527546..67529819,2	MCF-7	breast:
35	chr1:67230464..67231736-chr1:67614522..67615465,5	K562	blood:
36	chr1:67496580..67498692-chr1:67502548..67504321,2	K562	blood:
37	chr1:67229958..67230621-chr1:67677554..67678086,2	MCF-7	breast:
38	chr1:67558831..67564229-chr1:67565617..67569175,7	K562	blood:
39	chr1:67521487..67523144-chr1:67524256..67526515,2	MCF-7	breast:
40	chr1:67494482..67498622-chr1:67518632..67521573,3	K562	blood:
41	chr1:67685210..67687703-chr1:67692962..67695566,2	K562	blood:
42	chr1:67552378..67556698-chr1:67559401..67563184,5	K562	blood:
43	chr1:67610098..67611051-chr1:67676932..67677867,3	MCF-7	breast:
44	chr1:67551656..67556031-chr1:67559263..67563184,6	K562	blood:
45	chr1:67509294..67511950-chr1:67512459..67514669,2	K562	blood:
46	chr1:67637215..67639065-chr1:67640706..67643569,2	K562	blood:
47	chr1:67461406..67464362-chr1:67614424..67616124,2	K562	blood:
48	chr1:67663905..67666776-chr1:67896361..67898655,2	K562	blood:
49	chr1:67521307..67523366-chr1:67530195..67531830,2	K562	blood:
50	chr1:67527439..67529751-chr1:67536088..67538799,2	K562	blood:

(count:27 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IL12RB2-7	chr1:67666421-67666507	NONHSAT003777
2	lnc-C1orf141-1	chr1:67591435-67591592	NONHSAT003771
3	lnc-C1orf141-1	chr1:67592849-67592940	NONHSAT003770
4	lnc-IL12RB2-7	chr1:67648591-67648642	NONHSAT003775
5	lnc-IL12RB2-7	chr1:67666421-67666580	NONHSAT003775
6	lnc-C1orf141-1	chr1:67577260-67577327	NONHSAT003770
7	lnc-IL12RB2-7	chr1:67648591-67648642	NONHSAT003777
8	lnc-C1orf141-1	chr1:67558078-67562004	NONHSAT003771
9	lnc-C1orf141-1	chr1:67579297-67579439	NONHSAT003770
10	lnc-IL12RB2-7	chr1:67648591-67648642	NONHSAT003778
11	lnc-C1orf141-1	chr1:67596825-67596910	NONHSAT003770
12	lnc-IL12RB2-7	chr1:67648591-67648642	NONHSAT003776
13	lnc-C1orf141-1	chr1:67561935-67562004	NONHSAT003770
14	lnc-IL12RB2-7	chr1:67648591-67648642	NONHSAT003773
15	lnc-C1orf141-1	chr1:67600613-67600654	NONHSAT003770
16	lnc-IL12RB2-7	chr1:67648591-67648642	NONHSAT003779
17	lnc-C1orf141-1	chr1:67591435-67591592	NONHSAT003770
18	lnc-C1orf141-1	chr1:67568921-67569065	NONHSAT003770
19	lnc-IL12RB2-7	chr1:67685258-67685413	NONHSAT003776
20	lnc-IL12RB2-7	chr1:67685258-67685413	NONHSAT003775
21	lnc-IL12RB2-7	chr1:67685258-67685413	NONHSAT003778
22	lnc-IL12RB2-7	chr1:67666421-67666580	NONHSAT003779
23	lnc-C1orf141-1	chr1:67581035-67581147	NONHSAT003770
24	lnc-C1orf141-1	chr1:67600613-67600653	NONHSAT003771
25	lnc-C1orf141-1	chr1:67596825-67596910	NONHSAT003771
26	lnc-C1orf141-1	chr1:67557859-67559287	NONHSAT003770
27	lnc-C1orf141-1	chr1:67592849-67592940	NONHSAT003771

No data

Variant related genes	Relation type
ENSG00000252433	TF binding region
SLC35D1	TF binding region
RNU6-586P	TF binding region
IL23R	TF binding region
C1orf141	TF binding region
ENSG00000252433	CpG island
SLC35D1	CpG island
RNU6-586P	CpG island
IL23R	CpG island
C1orf141	CpG island
ENSG00000161533	chromatin interactions
ENSG00000261408	chromatin interactions
ENSG00000257949	chromatin interactions
ENSG00000116704	chromatin interactions
ENSG00000163527	chromatin interactions
ENSG00000203963	chromatin interactions
ENSG00000162594	chromatin interactions
ENSG00000198160	chromatin interactions
ENSG00000152763	chromatin interactions
ENSG00000253074	chromatin interactions
ENSG00000252433	chromatin interactions

Extended variants
information (count: 6354 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:6354 , 50 per page) page: 1 2 3 4 5 6 7 ... 128

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2755242	chr1:67479598-67479599	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs529321256	chr1:67479606-67479607	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565690447	chr1:67479649-67479650	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534958177	chr1:67479680-67479681	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554427307	chr1:67479690-67479691	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184729247	chr1:67479773-67479774	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537067275	chr1:67479782-67479783	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556900988	chr1:67479786-67479787	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs57476475	chr1:67479797-67479798	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs545927451	chr1:67479884-67479885	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553574571	chr1:67479977-67479978	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs975451	chr1:67480060-67480061	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs542576710	chr1:67480139-67480140	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs116194900	chr1:67480147-67480148	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189592095	chr1:67480153-67480154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs975452	chr1:67480190-67480191	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs6671340	chr1:67480217-67480218	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs181599607	chr1:67480238-67480239	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185136651	chr1:67480295-67480296	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551983182	chr1:67480301-67480302	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141946714	chr1:67480344-67480345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6660180	chr1:67480347-67480348	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9660778	chr1:67480352-67480353	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs367625124	chr1:67480353-67480354	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs386367231	chr1:67480354-67480355	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs386367232	chr1:67480373-67480374	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78538197	chr1:67480374-67480375	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201907636	chr1:67480375-67480376	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs61780026	chr1:67480376-67480377	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559532809	chr1:67480430-67480431	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532777833	chr1:67480442-67480443	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114081165	chr1:67480495-67480496	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189209845	chr1:67480513-67480514	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1045927	chr1:67480515-67480516	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568027776	chr1:67480577-67480578	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147752563	chr1:67480578-67480579	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141120042	chr1:67480609-67480610	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570752072	chr1:67480700-67480701	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539966411	chr1:67480765-67480766	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181860036	chr1:67480783-67480784	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551984308	chr1:67480795-67480796	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563930211	chr1:67480806-67480807	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs573414195	chr1:67480816-67480817	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs140508453	chr1:67480844-67480845	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs58522580	chr1:67480845-67480846	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs532045231	chr1:67480864-67480865	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs375900129	chr1:67480865-67480866	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs202103714	chr1:67480903-67480904	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs546579571	chr1:67480908-67480909	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs200347825	chr1:67480911-67480912	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
CNS Malformation Syndrome	17530927	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Colorectal cancer	20459617	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal cancer	21851588	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:2735 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67441600-67485200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:67445400-67483800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:67448800-67484200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr1:67449400-67501800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:67450600-67485200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:67451200-67506200	Weak transcription	Hela-S3	cervix
7	chr1:67453200-67484000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr1:67454800-67483200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr1:67454800-67484200	Weak transcription	NHDF-Ad	bronchial
10	chr1:67455000-67484000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:67455000-67484200	Weak transcription	GM12878-XiMat	blood
12	chr1:67455200-67495000	Weak transcription	Small Intestine	intestine
13	chr1:67455400-67509400	Weak transcription	Spleen	Spleen
14	chr1:67455600-67484200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr1:67455800-67485600	Weak transcription	HMEC	breast
16	chr1:67456400-67484800	Weak transcription	HUVEC	blood vessel
17	chr1:67460000-67485200	Weak transcription	Esophagus	oesophagus
18	chr1:67462000-67480400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:67462200-67484400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr1:67462400-67484200	Weak transcription	Ovary	ovary
21	chr1:67462400-67508400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:67465000-67484200	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr1:67465200-67502400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr1:67465200-67506400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr1:67466800-67484200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr1:67468000-67484400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:67468000-67485600	Weak transcription	Aorta	Aorta
28	chr1:67468600-67501800	Weak transcription	Psoas Muscle	Psoas
29	chr1:67469000-67484400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:67469200-67483200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr1:67469200-67484400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr1:67469400-67485000	Weak transcription	HSMMtube	muscle
33	chr1:67469600-67484200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr1:67470000-67483600	Weak transcription	NH-A	brain
35	chr1:67470800-67483800	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr1:67470800-67505400	Weak transcription	Gastric	stomach
37	chr1:67471200-67481200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr1:67471200-67484400	Weak transcription	Osteobl	bone
39	chr1:67471200-67486600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr1:67471400-67483400	Weak transcription	Brain Anterior Caudate	brain
41	chr1:67471600-67481000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:67471600-67484200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr1:67471800-67479800	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr1:67471800-67484200	Weak transcription	Brain Angular Gyrus	brain
45	chr1:67471800-67484200	Weak transcription	Fetal Heart	heart
46	chr1:67471800-67484200	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr1:67471800-67485200	Weak transcription	Pancreas	Pancrea
48	chr1:67471800-67485400	Weak transcription	Right Ventricle	heart
49	chr1:67471800-67503800	Weak transcription	Brain Substantia Nigra	brain
50	chr1:67472200-67484200	Weak transcription	Brain Hippocampus Middle	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links