Variant report

Variant	nsv533996
Chromosome Location	chr1:120359524-120471049
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1544)
CpG islands
(count:1406)
Chromatin interactive
region (count:83)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:12)

(count:1544 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:120402048-120402592	K562	blood:	n/a	n/a
2	ARID3A	chr1:120422885-120422997	K562	blood:	n/a	n/a
3	ARID3A	chr1:120413559-120413886	K562	blood:	n/a	n/a
4	ARID3A	chr1:120416643-120417039	K562	blood:	n/a	n/a
5	ARID3A	chr1:120425053-120425244	K562	blood:	n/a	n/a
6	ARID3A	chr1:120386952-120387123	K562	blood:	n/a	n/a
7	ARID3A	chr1:120441825-120442392	HepG2	liver:	n/a	n/a
8	ARID3A	chr1:120392364-120392392	K562	blood:	n/a	n/a
9	ARID3A	chr1:120413558-120413989	HepG2	liver:	n/a	n/a
10	ATF1	chr1:120410011-120410219	K562	blood:	n/a	n/a
11	ATF1	chr1:120462961-120463475	K562	blood:	n/a	n/a
12	ATF1	chr1:120398236-120398340	K562	blood:	n/a	n/a
13	ATF1	chr1:120383498-120383699	K562	blood:	n/a	n/a
14	ATF1	chr1:120359097-120359796	K562	blood:	n/a	n/a
15	ATF1	chr1:120391966-120392057	K562	blood:	n/a	n/a
16	ATF1	chr1:120426630-120426696	K562	blood:	n/a	n/a
17	ATF1	chr1:120402001-120402616	K562	blood:	n/a	n/a
18	ATF3	chr1:120402162-120402649	K562	blood:	n/a	n/a
19	BACH1	chr1:120431362-120431386	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr1:120412409-120412437	K562	blood:	n/a	n/a
21	BACH1	chr1:120430266-120430308	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr1:120416965-120417243	K562	blood:	n/a	chr1:120417090-120417104
23	BATF	chr1:120386771-120387113	GM12878	blood:	n/a	n/a
24	BATF	chr1:120416320-120416558	GM12878	blood:	n/a	chr1:120416427-120416438 chr1:120416428-120416438
25	BATF	chr1:120386780-120387005	GM12878	blood:	n/a	n/a
26	BCL11A	chr1:120387330-120387656	GM12878	blood:	n/a	n/a
27	BHLHE40	chr1:120402075-120402625	K562	blood:	n/a	n/a
28	BHLHE40	chr1:120387086-120387158	K562	blood:	n/a	n/a
29	BHLHE40	chr1:120386765-120387007	HepG2	liver:	n/a	n/a
30	BHLHE40	chr1:120385809-120385829	K562	blood:	n/a	n/a
31	BHLHE40	chr1:120462981-120463318	K562	blood:	n/a	n/a
32	BHLHE40	chr1:120414214-120414217	K562	blood:	n/a	n/a
33	BHLHE40	chr1:120425148-120425279	K562	blood:	n/a	n/a
34	BHLHE40	chr1:120416411-120417211	K562	blood:	n/a	n/a
35	BHLHE40	chr1:120413529-120413860	K562	blood:	n/a	n/a
36	BRCA1	chr1:120413720-120413825	HepG2	liver:	n/a	n/a
37	BRCA1	chr1:120413878-120413886	GM12878	blood:	n/a	n/a
38	BRCA1	chr1:120413508-120413986	Hela-S3	cervix:	n/a	n/a
39	CBX3	chr1:120402018-120402716	K562	blood:	n/a	n/a
40	CCNT2	chr1:120422520-120423032	K562	blood:	n/a	n/a
41	CCNT2	chr1:120416779-120417077	K562	blood:	n/a	n/a
42	CCNT2	chr1:120438960-120439212	K562	blood:	n/a	n/a
43	CEBPB	chr1:120413514-120414026	MCF-7	breast:	n/a	chr1:120413914-120413927
44	CEBPB	chr1:120380862-120381233	HepG2	liver:	n/a	chr1:120381035-120381046 chr1:120381036-120381047 chr1:120381035-120381048
45	CEBPB	chr1:120412709-120412901	K562	blood:	n/a	chr1:120412787-120412798
46	CEBPB	chr1:120413598-120413996	H1-hESC	embryonic stem cell:	n/a	chr1:120413914-120413927
47	CEBPB	chr1:120413630-120413815	HepG2	liver:	n/a	n/a
48	CEBPB	chr1:120425874-120425955	HepG2	liver:	n/a	n/a
49	CEBPB	chr1:120413569-120413925	K562	blood:	n/a	n/a
50	CEBPB	chr1:120437715-120437953	A549	lung:	n/a	chr1:120437871-120437882

(count:1406 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:120457856-120457906	HCPEpiC	choroid plexus:	n/a
2	chr1:120437090-120437140	K562	blood:	n/a
3	chr1:120439014-120439064	PANC-1	pancreas:	n/a
4	chr1:120457856-120457906	HCPEpiC	choroid plexus:	n/a
5	chr1:120437090-120437140	K562	blood:	n/a
6	chr1:120439014-120439064	PANC-1	pancreas:	n/a
7	chr1:120387299-120387349	NH-A	brain:	n/a
8	chr1:120387083-120387133	HCPEpiC	choroid plexus:	n/a
9	chr1:120387965-120388015	HCT-116	colon:	n/a
10	chr1:120377779-120377829	CMK	blood:	n/a
11	chr1:120377779-120377829	GM12891	blood:	n/a
12	chr1:120439870-120439920	LNCaP	prostate:	n/a
13	chr1:120441702-120441752	GM19239	blood:	n/a
14	chr1:120440230-120440280	PFSK-1	brain:	n/a
15	chr1:120457856-120457906	ProgFib	skin:	n/a
16	chr1:120439812-120439862	BJ	skin:	n/a
17	chr1:120414862-120414912	HAEpiC	amniotic membrane:	n/a
18	chr1:120414862-120414912	ECC-1	luminal epithelium:	n/a
19	chr1:120395857-120395907	Hela-S3	cervix:	n/a
20	chr1:120439014-120439064	BE2_C	brain:	n/a
21	chr1:120457856-120457906	HL-60	blood:	n/a
22	chr1:120395857-120395907	SK-N-MC	brain:	n/a
23	chr1:120439396-120439446	HCPEpiC	choroid plexus:	n/a
24	chr1:120440230-120440280	Jurkat	blood:	n/a
25	chr1:120439522-120439572	SK-N-MC	brain:	n/a
26	chr1:120440230-120440280	A549	lung:	n/a
27	chr1:120396074-120396124	AoSMC	blood vessel:	n/a
28	chr1:120395857-120395907	GM12891	blood:	n/a
29	chr1:120439870-120439920	ECC-1	luminal epithelium:	n/a
30	chr1:120439036-120439086	MCF-7	breast:	n/a
31	chr1:120394120-120394170	PrEC	prostate:	n/a
32	chr1:120395943-120395993	NHDF-neo	bronchial:	n/a
33	chr1:120439522-120439572	HEK293	kidney:	embryo
34	chr1:120439522-120439572	GM12891	blood:	n/a
35	chr1:120438925-120438975	Hepatocyte	liver:	n/a
36	chr1:120396074-120396124	ECC-1	luminal epithelium:	n/a
37	chr1:120414862-120414912	Caco-2	colon:	n/a
38	chr1:120377779-120377829	MCF10A-Er-Src	breast:	n/a
39	chr1:120395857-120395907	A549	lung:	n/a
40	chr1:120457856-120457906	GM12891	blood:	n/a
41	chr1:120396074-120396124	NHDF-neo	bronchial:	n/a
42	chr1:120439396-120439446	HCM	heart:	n/a
43	chr1:120396167-120396217	GM12892	blood:	n/a
44	chr1:120437090-120437140	ovcar-3	ovarian:	n/a
45	chr1:120435245-120435295	BE2_C	brain:	n/a
46	chr1:120439522-120439572	SKMC	muscle:	n/a
47	chr1:120441702-120441752	NHBE	bronchial:	n/a
48	chr1:120387083-120387133	HCF	heart:	n/a
49	chr1:120389211-120389261	HRPEpiC	eye:	n/a
50	chr1:120439014-120439064	HCM	heart:	n/a

(count:83 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:120454474..120456790-chr1:120460931..120463931,3	MCF-7	breast:
2	chr1:120286305..120287642-chr1:120412794..120414270,15	MCF-7	breast:
3	chr1:120415380..120417252-chr1:120419705..120421927,2	K562	blood:
4	chr1:120440889..120443240-chr12:109181998..109184664,2	MCF-7	breast:
5	chr1:120452541..120455108-chr1:120461853..120464281,3	K562	blood:
6	chr1:120438934..120440832-chr1:120445374..120447233,2	K562	blood:
7	chr1:120467969..120469676-chr1:120469960..120472021,2	MCF-7	breast:
8	chr1:120456262..120460550-chr1:120460767..120463877,3	K562	blood:
9	chr1:120324664..120326745-chr1:120374346..120376019,2	MCF-7	breast:
10	chr1:120409955..120411545-chr1:120412072..120413806,2	MCF-7	breast:
11	chr1:120413290..120414192-chr1:145061552..145062410,3	MCF-7	breast:
12	chr1:120440403..120442887-chr1:120444979..120447049,2	MCF-7	breast:
13	chr1:120445705..120448547-chr1:120448757..120452152,3	MCF-7	breast:
14	chr1:120358099..120360727-chr1:144531568..144534050,2	K562	blood:
15	chr1:120400878..120403434-chr1:120429544..120432344,2	MCF-7	breast:
16	chr1:120366944..120369602-chr1:120374482..120376649,2	K562	blood:
17	chr1:120418108..120420046-chr1:120426415..120428973,2	MCF-7	breast:
18	chr1:120400389..120402381-chr1:120411990..120414876,2	MCF-7	breast:
19	chr1:120351224..120351770-chr1:120413201..120414211,3	K562	blood:
20	chr1:120376398..120378437-chr1:120380310..120382183,2	MCF-7	breast:
21	chr1:120461841..120464545-chr1:120468138..120469880,2	MCF-7	breast:
22	chr1:120270844..120273756-chr1:120377482..120379845,2	MCF-7	breast:
23	chr1:120401899..120403872-chr1:120404616..120406616,2	K562	blood:
24	chr1:120286664..120287293-chr1:120416745..120417547,2	MCF-7	breast:
25	chr1:120418215..120420899-chr1:120436819..120439345,2	MCF-7	breast:
26	chr1:120415380..120417252-chr1:120419705..120421927,2	K562	blood:
27	chr1:120450368..120452473-chr1:120481049..120483944,2	K562	blood:
28	chr1:120395990..120398388-chr1:120402021..120403587,2	MCF-7	breast:
29	chr1:120401746..120405481-chr1:120411089..120413247,3	K562	blood:
30	chr1:120440403..120442887-chr1:120444979..120447049,2	MCF-7	breast:
31	chr1:120395050..120396919-chr1:120400456..120403382,2	K562	blood:
32	chr1:120423918..120425680-chr1:120436272..120439121,2	MCF-7	breast:
33	chr1:120461841..120464545-chr1:120468138..120469880,2	MCF-7	breast:
34	chr1:120414299..120416081-chr1:120419114..120421121,2	MCF-7	breast:
35	chr1:120466619..120469104-chr1:120488906..120491795,2	K562	blood:
36	chr1:120395990..120398388-chr1:120402021..120403587,2	MCF-7	breast:
37	chr1:120461834..120464698-chr1:120475865..120478415,2	MCF-7	breast:
38	chr1:120401899..120403872-chr1:120404616..120406616,2	K562	blood:
39	chr1:120447256..120450228-chr1:120525932..120527487,2	K562	blood:
40	chr1:120379572..120381597-chr1:120381872..120384134,2	MCF-7	breast:
41	chr1:120402638..120409843-chr1:120411143..120414879,6	K562	blood:
42	chr1:120428374..120430929-chr1:144532739..144535945,3	K562	blood:
43	chr1:120467969..120469676-chr1:120469960..120472021,2	MCF-7	breast:
44	chr1:120413136..120413983-chr1:120688071..120688676,2	MCF-7	breast:
45	chr1:120402254..120403816-chr1:120407208..120410128,2	K562	blood:
46	chr1:120407227..120409866-chr1:120411448..120413775,3	K562	blood:
47	chr1:120370478..120372574-chr1:120394062..120395720,2	MCF-7	breast:
48	chr1:120445705..120448547-chr1:120448757..120452152,3	MCF-7	breast:
49	chr1:120401746..120405481-chr1:120411089..120413247,3	K562	blood:
50	chr1:120407227..120409866-chr1:120411448..120413775,3	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NOTCH2-1	chr1:120451878-120453236	ENSG00000261662.1
2	lnc-PHGDH-2	chr1:120388521-120388629	XLOC_000371
3	lnc-ADAM30-1	chr1:120390862-120391484	ENSG00000247433
4	lnc-PHGDH-2	chr1:120389145-120389383	XLOC_000371

No data

(count:12 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	NOTCH2	hsa-miR-34a-5p	chr1:120455462-120455456
2	NOTCH2	hsa-miR-181a-5p	chr1:120454961-120454954
3	NOTCH2	hsa-miR-326	chr1:120454916-120454935
4	NOTCH2	hsa-miR-16-5p	chr1:120457884-120457878
5	NOTCH2	hsa-miR-107	chr1:120457885-120457879
6	NOTCH2	hsa-miR-107	chr1:120457879-120457900
7	NOTCH2	hsa-miR-181c-5p	chr1:120454955-120454976
8	NOTCH2	hsa-miR-34a-5p	chr1:120455456-120455477
9	NOTCH2	hsa-miR-1	chr1:120454297-120454318
10	NOTCH2	hsa-miR-181a-5p	chr1:120454955-120454976
11	NOTCH2	hsa-miR-16-5p	chr1:120457878-120457901
12	NOTCH2	hsa-miR-181c-5p	chr1:120454961-120454954

Variant related genes	Relation type
ADAM30	TF binding region
NBPF7	TF binding region
NOTCH2	TF binding region
ENSG00000261662	TF binding region
NOTCH2P1	TF binding region
PFN1P9	TF binding region
ADAM30	CpG island
NBPF7	CpG island
NOTCH2	CpG island
ENSG00000261662	CpG island
NOTCH2P1	CpG island
PFN1P9	CpG island
ENSG00000226446	chromatin interactions
ENSG00000227205	chromatin interactions
ENSG00000201699	chromatin interactions
ENSG00000261662	chromatin interactions
ENSG00000134250	chromatin interactions
ENSG00000134249	chromatin interactions
ENSG00000134193	chromatin interactions
ZDHHC2	miRNA target sites

Extended variants
information (count: 3735 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:3735 , 50 per page) page: 1 2 3 4 5 6 7 ... 75

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587625463	chr1:120359535-120359536	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs185127903	chr1:120359590-120359591	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs189140262	chr1:120359634-120359635	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs79098718	chr1:120359676-120359677	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs587663859	chr1:120359792-120359793	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs587747672	chr1:120359816-120359817	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs35325304	chr1:120359857-120359858	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs587616770	chr1:120359913-120359914	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs587702079	chr1:120359964-120359965	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs74115359	chr1:120359982-120359983	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs147575886	chr1:120359997-120359998	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs3009197	chr1:120359998-120359999	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs369091687	chr1:120360004-120360005	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs181829460	chr1:120360052-120360053	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs141967565	chr1:120360092-120360093	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs587691525	chr1:120360173-120360174	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs587751214	chr1:120360195-120360196	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs145755209	chr1:120360202-120360203	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs186361268	chr1:120360221-120360222	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs587725813	chr1:120360239-120360240	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs12075171	chr1:120360242-120360243	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs587656013	chr1:120360265-120360266	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs377270538	chr1:120360359-120360360	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs373846328	chr1:120360364-120360365	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs374610877	chr1:120360418-120360419	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs3009196	chr1:120360473-120360474	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs587607143	chr1:120360503-120360504	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs138976089	chr1:120360520-120360521	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs375982340	chr1:120360570-120360571	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs587602509	chr1:120360588-120360589	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs587677592	chr1:120360622-120360623	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs587734973	chr1:120360696-120360697	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs587700318	chr1:120360780-120360781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371766714	chr1:120360782-120360783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs374327181	chr1:120360817-120360818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs587630603	chr1:120360865-120360866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs587687987	chr1:120360897-120360898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs587741621	chr1:120360951-120360952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs587611825	chr1:120360961-120360962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114142697	chr1:120361000-120361001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141328963	chr1:120361039-120361040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs587669062	chr1:120361072-120361073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs200892995	chr1:120361083-120361084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs377593088	chr1:120361087-120361088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369152643	chr1:120361097-120361098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs150359642	chr1:120361128-120361129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs201133220	chr1:120361174-120361175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs2994813	chr1:120361176-120361177	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs587709527	chr1:120361185-120361186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs11800564	chr1:120361191-120361192	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Wilms tumour	21544195	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
Glioblastoma multiforme	21080181	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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	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
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Aetanephric adenomas	20802469	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Systemic lupus erythematosus	21956041	CNVD
Breast cancer	21804112	CNVD
Mental retardation	21062444	CNVD
Myelofibrosis	22110671	CNVD
Emphysema	19352772	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21858162	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	21272361	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ependymoma	19289631	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Aortic dissecting aneurysms	22263138	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	21346763	CNVD

Chromatin state (count:926 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120356600-120361200	Enhancers	Fetal Intestine Small	intestine
2	chr1:120356800-120359600	Enhancers	Stomach Mucosa	stomach
3	chr1:120356800-120359800	Enhancers	HMEC	breast
4	chr1:120356800-120361000	Enhancers	Fetal Intestine Large	intestine
5	chr1:120356800-120361200	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr1:120357000-120359600	Enhancers	HSMM	muscle
7	chr1:120357000-120359800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:120357000-120359800	Enhancers	NHEK	skin
9	chr1:120357000-120360800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr1:120357200-120361000	Enhancers	HepG2	liver
11	chr1:120357600-120359600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:120357600-120359600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:120357800-120359800	Enhancers	K562	blood
14	chr1:120358200-120359600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:120358200-120359600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:120358200-120359600	Enhancers	Osteobl	bone
17	chr1:120358400-120359600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:120358400-120360200	Enhancers	Duodenum Mucosa	Duodenum
19	chr1:120358600-120359800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr1:120358800-120360800	Enhancers	Liver	Liver
21	chr1:120359000-120359800	Enhancers	Fetal Heart	heart
22	chr1:120359000-120361000	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr1:120359000-120372200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr1:120359200-120359600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:120359200-120359600	Bivalent Enhancer	NHDF-Ad	bronchial
26	chr1:120359400-120359600	Enhancers	Hela-S3	cervix
27	chr1:120359400-120359800	Enhancers	A549	lung
28	chr1:120359400-120363000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:120359600-120360800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:120359600-120360800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:120359600-120360800	Weak transcription	Stomach Mucosa	stomach
32	chr1:120360200-120360800	Weak transcription	Duodenum Mucosa	Duodenum
33	chr1:120360600-120360800	Enhancers	Small Intestine	intestine
34	chr1:120360800-120361000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:120360800-120361000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr1:120360800-120361000	Enhancers	Duodenum Mucosa	Duodenum
37	chr1:120360800-120361000	Enhancers	Stomach Mucosa	stomach
38	chr1:120360800-120361200	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr1:120364600-120365600	Enhancers	Fetal Muscle Trunk	muscle
40	chr1:120364800-120365800	Enhancers	Fetal Muscle Leg	muscle
41	chr1:120365000-120365400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr1:120370600-120372600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:120371400-120371600	Enhancers	Muscle Satellite Cultured Cells	--
44	chr1:120371400-120372600	Enhancers	HSMM	muscle
45	chr1:120372000-120372400	Enhancers	HSMMtube	muscle
46	chr1:120372000-120372600	Enhancers	Fetal Intestine Large	intestine
47	chr1:120372000-120372800	Enhancers	Fetal Stomach	stomach
48	chr1:120372000-120373400	Enhancers	Fetal Muscle Leg	muscle
49	chr1:120372200-120373000	Enhancers	Brain Substantia Nigra	brain
50	chr1:120372200-120373000	Active TSS	Fetal Kidney	kidney

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