Variant report

Variant	nsv8387
Chromosome Location	chr8:130711059-130756654
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1124)
CpG islands
(count:184)
Chromatin interactive
region (count:47)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1124 , 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	ARID3A	chr8:130740929-130741022	HepG2	liver:	n/a	n/a
2	ARID3A	chr8:130738533-130738902	K562	blood:	n/a	n/a
3	ARID3A	chr8:130734277-130734292	K562	blood:	n/a	n/a
4	ARID3A	chr8:130740874-130741037	K562	blood:	n/a	n/a
5	ARID3A	chr8:130719922-130720485	K562	blood:	n/a	n/a
6	ARID3A	chr8:130738547-130738921	HepG2	liver:	n/a	n/a
7	ATF3	chr8:130722214-130723775	A549	lung:	n/a	n/a
8	ATF3	chr8:130719755-130720774	A549	lung:	n/a	n/a
9	ATF3	chr8:130719451-130720699	A549	lung:	n/a	n/a
10	ATF3	chr8:130722524-130723364	A549	lung:	n/a	n/a
11	BACH1	chr8:130738640-130738754	K562	blood:	n/a	n/a
12	BACH1	chr8:130722269-130722296	K562	blood:	n/a	n/a
13	BCL3	chr8:130722300-130723596	A549	lung:	n/a	chr8:130722910-130722919
14	BCL3	chr8:130720942-130721896	A549	lung:	n/a	n/a
15	BCL3	chr8:130719669-130720861	A549	lung:	n/a	chr8:130720436-130720445 chr8:130720435-130720444
16	BCL3	chr8:130722051-130723498	A549	lung:	n/a	chr8:130722910-130722919
17	BCL3	chr8:130719710-130721822	A549	lung:	n/a	chr8:130720436-130720445 chr8:130720435-130720444
18	BHLHE40	chr8:130722765-130722965	K562	blood:	n/a	n/a
19	BHLHE40	chr8:130719952-130720435	K562	blood:	n/a	n/a
20	BHLHE40	chr8:130716455-130716460	K562	blood:	n/a	n/a
21	BHLHE40	chr8:130738532-130738794	K562	blood:	n/a	n/a
22	BHLHE40	chr8:130711810-130711912	K562	blood:	n/a	n/a
23	BRCA1	chr8:130719832-130720965	Hela-S3	cervix:	n/a	n/a
24	CBX3	chr8:130730566-130730821	K562	blood:	n/a	n/a
25	CBX3	chr8:130720036-130720888	K562	blood:	n/a	n/a
26	CBX3	chr8:130728253-130728570	K562	blood:	n/a	n/a
27	CBX3	chr8:130722053-130723450	HCT-116	colon:	n/a	n/a
28	CBX3	chr8:130711692-130712257	K562	blood:	n/a	n/a
29	CBX3	chr8:130728107-130728639	HCT-116	colon:	n/a	n/a
30	CBX3	chr8:130728169-130728691	HCT-116	colon:	n/a	n/a
31	CBX3	chr8:130718515-130721845	HCT-116	colon:	n/a	n/a
32	CBX3	chr8:130728209-130728650	K562	blood:	n/a	n/a
33	CCNT2	chr8:130720053-130720677	K562	blood:	n/a	n/a
34	CEBPB	chr8:130741902-130742188	HepG2	liver:	n/a	n/a
35	CEBPB	chr8:130756313-130756661	HepG2	liver:	n/a	chr8:130756486-130756497
36	CEBPB	chr8:130722631-130723127	A549	lung:	n/a	n/a
37	CEBPB	chr8:130722506-130723589	A549	lung:	n/a	n/a
38	CEBPB	chr8:130741824-130742759	IMR90	lung:	n/a	n/a
39	CEBPB	chr8:130722617-130723319	A549	lung:	n/a	n/a
40	CEBPB	chr8:130722351-130723440	HCT-116	colon:	n/a	n/a
41	CEBPB	chr8:130756336-130756620	IMR90	lung:	n/a	chr8:130756486-130756497
42	CEBPB	chr8:130741910-130742100	K562	blood:	n/a	n/a
43	CEBPB	chr8:130719582-130721128	HCT-116	colon:	n/a	n/a
44	CEBPB	chr8:130719572-130720490	A549	lung:	n/a	n/a
45	CEBPB	chr8:130719513-130720741	A549	lung:	n/a	n/a
46	CEBPB	chr8:130721011-130721780	A549	lung:	n/a	n/a
47	CEBPB	chr8:130721295-130721776	Hela-S3	cervix:	n/a	n/a
48	CEBPB	chr8:130719815-130720617	A549	lung:	n/a	n/a
49	CEBPB	chr8:130721033-130721814	A549	lung:	n/a	n/a
50	CEBPB	chr8:130741823-130742196	A549	lung:	n/a	n/a

(count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:130713856-130713906	HNPCEpiC	eye:	n/a
2	chr8:130713856-130713906	HNPCEpiC	eye:	n/a
3	chr8:130738823-130738873	HMEC	breast:	n/a
4	chr8:130713856-130713906	GM19239	blood:	n/a
5	chr8:130713856-130713906	HepG2	liver:	n/a
6	chr8:130738823-130738873	HAEpiC	amniotic membrane:	n/a
7	chr8:130713856-130713906	K562	blood:	n/a
8	chr8:130713856-130713906	AG09319	gingival:	n/a
9	chr8:130738823-130738873	LNCaP	prostate:	n/a
10	chr8:130738823-130738873	HRCEpiC	kidney:	n/a
11	chr8:130720653-130720703	K562	blood:	n/a
12	chr8:130713856-130713906	AoSMC	blood vessel:	n/a
13	chr8:130713856-130713906	HCF	heart:	n/a
14	chr8:130713856-130713906	HRCEpiC	kidney:	n/a
15	chr8:130713856-130713906	NHDF-neo	bronchial:	n/a
16	chr8:130720653-130720703	PrEC	prostate:	n/a
17	chr8:130713856-130713906	BJ	skin:	n/a
18	chr8:130738823-130738873	HPAEpiC	pulmonary alveolar:	n/a
19	chr8:130713856-130713906	HEEpiC	esophagus:	n/a
20	chr8:130738823-130738873	HRPEpiC	eye:	n/a
21	chr8:130713856-130713906	HCT-116	colon:	n/a
22	chr8:130738823-130738873	HEEpiC	esophagus:	n/a
23	chr8:130738823-130738873	PrEC	prostate:	n/a
24	chr8:130738823-130738873	AoSMC	blood vessel:	n/a
25	chr8:130713856-130713906	ProgFib	skin:	n/a
26	chr8:130713856-130713906	A549	lung:	n/a
27	chr8:130720653-130720703	GM19239	blood:	n/a
28	chr8:130713856-130713906	T-47D	breast:	n/a
29	chr8:130738823-130738873	PFSK-1	brain:	n/a
30	chr8:130713856-130713906	HIPEpiC	eye:	n/a
31	chr8:130738823-130738873	A549	lung:	n/a
32	chr8:130738823-130738873	AG10803	skin:	n/a
33	chr8:130720653-130720703	BE2_C	brain:	n/a
34	chr8:130713856-130713906	U87	brain:	n/a
35	chr8:130738823-130738873	NT2-D1	testis:	n/a
36	chr8:130713856-130713906	IMR90	lung:	fetal
37	chr8:130720653-130720703	GM06990	blood:	n/a
38	chr8:130738823-130738873	GM12878	blood:	n/a
39	chr8:130713856-130713906	HAEpiC	amniotic membrane:	n/a
40	chr8:130720653-130720703	GM12878	blood:	n/a
41	chr8:130720653-130720703	HRCEpiC	kidney:	n/a
42	chr8:130738823-130738873	NB4	blood:	n/a
43	chr8:130713856-130713906	ovcar-3	ovarian:	n/a
44	chr8:130738823-130738873	HEK293	kidney:	embryo
45	chr8:130720653-130720703	HCPEpiC	choroid plexus:	n/a
46	chr8:130713856-130713906	GM12891	blood:	n/a
47	chr8:130738823-130738873	SAEC	small airway:	n/a
48	chr8:130720653-130720703	AoSMC	blood vessel:	n/a
49	chr8:130738823-130738873	U87	brain:	n/a
50	chr8:130720653-130720703	AG04450	lung:	fetal

(count:47 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:130719927..130722565-chr8:130723755..130726675,2	MCF-7	breast:
2	chr8:130685068..130686753-chr8:130736730..130739405,2	K562	blood:
3	chr8:130699941..130700716-chr8:130738329..130738842,2	MCF-7	breast:
4	chr8:130709158..130713272-chr8:130716107..130718644,3	K562	blood:
5	chr8:130709158..130713272-chr8:130716107..130718644,3	K562	blood:
6	chr8:130711772..130714340-chr8:130717144..130719006,2	K562	blood:
7	chr8:130685068..130688410-chr8:130735715..130739405,3	K562	blood:
8	chr8:130709112..130710957-chr8:130718766..130720271,2	K562	blood:
9	chr8:130698168..130701867-chr8:130706682..130711085,4	MCF-7	breast:
10	chr8:130721029..130723097-chr8:130725235..130727750,2	K562	blood:
11	chr8:130738688..130740229-chr8:130741129..130743486,2	K562	blood:
12	chr8:130724777..130726937-chr8:130738994..130740773,2	K562	blood:
13	chr8:130710996..130713027-chr8:130721393..130723665,2	K562	blood:
14	chr8:130701843..130703503-chr8:130719583..130721644,2	K562	blood:
15	chr8:130717351..130718895-chr8:130719468..130721279,2	K562	blood:
16	chr8:130700584..130702961-chr8:130710020..130711748,2	MCF-7	breast:
17	chr8:130001691..130004294-chr8:130710957..130713827,2	K562	blood:
18	chr8:130699826..130701651-chr8:130708566..130712426,4	K562	blood:
19	chr8:130703853..130706502-chr8:130708490..130712451,4	K562	blood:
20	chr8:130699541..130700041-chr8:130738268..130738843,2	K562	blood:
21	chr8:130717459..130720769-chr8:130721541..130726036,4	MCF-7	breast:
22	chr8:130715407..130717008-chr8:130717100..130719495,2	MCF-7	breast:
23	chr8:130724777..130726937-chr8:130738994..130740773,2	K562	blood:
24	chr8:130711772..130714340-chr8:130717144..130719006,2	K562	blood:
25	chr8:128747251..128749651-chr8:130737243..130738948,2	K562	blood:
26	chr8:130699308..130701478-chr8:130717660..130720655,2	K562	blood:
27	chr8:130707905..130710506-chr8:130721790..130724532,3	K562	blood:
28	chr8:128747402..128749351-chr8:130710399..130712084,2	K562	blood:
29	chr8:130709015..130711494-chr8:130712126..130713771,2	K562	blood:
30	chr8:130715407..130717008-chr8:130717100..130719495,2	MCF-7	breast:
31	chr8:130721029..130723097-chr8:130725235..130727750,2	K562	blood:
32	chr8:130700888..130706431-chr8:130718980..130724092,7	K562	blood:
33	chr8:130694163..130694944-chr8:130737903..130739156,3	MCF-7	breast:
34	chr8:128748320..128750405-chr8:130724803..130726595,2	K562	blood:
35	chr8:130732259..130735444-chr8:130737069..130741081,4	K562	blood:
36	chr8:130717459..130720769-chr8:130721541..130726036,4	MCF-7	breast:
37	chr8:130719927..130722565-chr8:130723755..130726675,2	MCF-7	breast:
38	chr8:128747612..128750139-chr8:130714073..130716567,2	K562	blood:
39	chr8:130717351..130718895-chr8:130719468..130721279,2	K562	blood:
40	chr8:130710996..130713027-chr8:130721393..130723665,2	K562	blood:
41	chr8:130709015..130711494-chr8:130712126..130713771,2	K562	blood:
42	chr8:130738688..130740229-chr8:130741129..130743486,2	K562	blood:
43	chr8:128748018..128748536-chr8:130738676..130739207,2	K562	blood:
44	chr8:130593091..130595640-chr8:130733142..130736387,3	K562	blood:
45	chr8:130709093..130710072-chr8:130738277..130738889,2	MCF-7	breast:
46	chr8:128747171..128749323-chr8:130738753..130740305,2	MCF-7	breast:
47	chr8:128747612..128749495-chr8:130715067..130717561,2	K562	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MYC-16	chr8:130742037-130742257	NONHSAT129131
2	lnc-GSDMC-4	chr8:130713490-130713651	NONHSAT129128
3	lnc-MYC-16	chr8:130740990-130741553	NONHSAT129131
4	lnc-GSDMC-3	chr8:130718657-130718852	NONHSAT129129
5	lnc-GSDMC-3	chr8:130719294-130719428	NONHSAT129129
6	lnc-MYC-3	chr8:130711924-130712162	NONHSAT129111
7	lnc-MYC-3	chr8:130715458-130715825	NONHSAT129111
8	lnc-GSDMC-3	chr8:130718356-130718560	NONHSAT129129
9	lnc-MYC-16	chr8:130742355-130742691	NONHSAT129131

No data

Variant related genes	Relation type
ENSG00000224110	TF binding region
ENSG00000224110	CpG island
ENSG00000224110	chromatin interactions
ENSG00000136997	chromatin interactions

Extended variants
information (count: 1755 )
Associated
traits (count: 154 )

Variant overlapped rSNPs/rCNVs (count:1755 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6998925	chr8:130711062-130711063	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs545883192	chr8:130711137-130711138	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs192844518	chr8:130711150-130711151	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs576938533	chr8:130711299-130711300	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs536337755	chr8:130711308-130711309	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs184861790	chr8:130711410-130711411	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs149163862	chr8:130711430-130711431	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs113584503	chr8:130711441-130711442	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs142347049	chr8:130711467-130711468	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs560183379	chr8:130711508-130711509	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs527417420	chr8:130711524-130711525	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs370399443	chr8:130711545-130711546	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs77753889	chr8:130711599-130711600	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs200410702	chr8:130711611-130711612	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs147401197	chr8:130711612-130711613	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs34229909	chr8:130711613-130711614	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs372268161	chr8:130711615-130711616	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs577370482	chr8:130711620-130711621	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs542077213	chr8:130711653-130711654	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs562186348	chr8:130711654-130711655	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs568662148	chr8:130711655-130711656	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs568222216	chr8:130711740-130711741	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs535742717	chr8:130711810-130711811	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs547427915	chr8:130711811-130711812	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs12056383	chr8:130711839-130711840	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs74556111	chr8:130711873-130711874	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs190150047	chr8:130711875-130711876	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs181855893	chr8:130711901-130711902	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs184871092	chr8:130711939-130711940	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs556705194	chr8:130711981-130711982	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs574867559	chr8:130712023-130712024	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs374479820	chr8:130712028-130712029	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs556322907	chr8:130712029-130712030	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs574686083	chr8:130712047-130712048	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs116236059	chr8:130712049-130712050	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs560219870	chr8:130712072-130712073	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs151237138	chr8:130712073-130712074	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs189628277	chr8:130712152-130712153	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs199615963	chr8:130712196-130712197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541893854	chr8:130712218-130712219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564036279	chr8:130712220-130712221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531388883	chr8:130712231-130712232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115403457	chr8:130712270-130712271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562299058	chr8:130712306-130712307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529577270	chr8:130712325-130712326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547660918	chr8:130712414-130712415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73710467	chr8:130712447-130712448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539462427	chr8:130712528-130712529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551709816	chr8:130712551-130712552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570098796	chr8:130712558-130712559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:154)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Malignant melanoma	17260012	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	22048815	CNVD
Colorectal cancer	16912164	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	21148746	CNVD
Lung cancer	21911935	CNVD
Breast cancer	20459607	CNVD
Medulloblastoma	19270706	CNVD
Acute myeloid leukemia	19651601	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	22860045	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Prostate cancer	17217626	CNVD
Cancer	17160897	CNVD
Breast cancer	16497871	CNVD
Colorectal cancer	16882699	CNVD
Cystic fibrosis	19273617	CNVD
Chronic stroke	19622162	CNVD
Chordoma	18071362	CNVD
Breast cancer	17850661	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	16272173	CNVD
Uveal melanoma	20484589	CNVD
Ovarian cancer	20844748	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	16620391	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21611746	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:292 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130705800-130713600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr8:130707200-130713200	Weak transcription	Fetal Lung	lung
3	chr8:130708200-130720200	Weak transcription	Esophagus	oesophagus
4	chr8:130709400-130711400	Enhancers	A549	lung
5	chr8:130709600-130711600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:130709800-130711600	Enhancers	K562	blood
7	chr8:130710400-130715400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:130710600-130713800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:130710600-130716400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:130710600-130719800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:130710800-130714000	Weak transcription	HSMM	muscle
12	chr8:130710800-130716000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:130710800-130719200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:130710800-130719200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:130710800-130719400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:130710800-130719800	Weak transcription	NHLF	lung
17	chr8:130710800-130720000	Weak transcription	HSMMtube	muscle
18	chr8:130711400-130716000	Weak transcription	A549	lung
19	chr8:130711600-130712600	Weak transcription	K562	blood
20	chr8:130711600-130713800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:130712600-130713000	Enhancers	K562	blood
22	chr8:130713000-130713200	Weak transcription	K562	blood
23	chr8:130713200-130714600	Enhancers	Fetal Lung	lung
24	chr8:130713200-130714600	Enhancers	Fetal Muscle Leg	muscle
25	chr8:130713200-130714600	Enhancers	Fetal Stomach	stomach
26	chr8:130713200-130714600	Enhancers	K562	blood
27	chr8:130713400-130714600	Enhancers	Placenta	Placenta
28	chr8:130713600-130714200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:130713600-130714400	Enhancers	Fetal Kidney	kidney
30	chr8:130713600-130714600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr8:130713600-130714600	Enhancers	Ovary	ovary
32	chr8:130713800-130714200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr8:130713800-130714200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:130713800-130714600	Enhancers	Fetal Muscle Trunk	muscle
35	chr8:130714000-130714400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:130714000-130714600	Enhancers	HSMM	muscle
37	chr8:130714200-130714400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr8:130714200-130716400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr8:130714400-130716400	Weak transcription	Fetal Kidney	kidney
40	chr8:130714600-130715400	Weak transcription	Fetal Muscle Leg	muscle
41	chr8:130714600-130716400	Weak transcription	Fetal Lung	lung
42	chr8:130714600-130719800	Weak transcription	K562	blood
43	chr8:130714600-130720000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr8:130714600-130720000	Weak transcription	Fetal Stomach	stomach
45	chr8:130714600-130720000	Weak transcription	HSMM	muscle
46	chr8:130715400-130715600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr8:130715400-130715600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr8:130715400-130716600	Enhancers	Fetal Muscle Leg	muscle
49	chr8:130715400-130717000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr8:130716000-130717000	Enhancers	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links