Variant report

Variant	nsv611229
Chromosome Location	chr8:46902917-47439358
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1723)
CpG islands
(count:4524)
Chromatin interactive
region (count:33)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1723 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr8:46957931-46958134	K562	blood:	n/a	n/a
2	ATF1	chr8:47263663-47264034	K562	blood:	n/a	n/a
3	ATF1	chr8:47368426-47368796	K562	blood:	n/a	n/a
4	ATF1	chr8:47049142-47049269	K562	blood:	n/a	n/a
5	BACH1	chr8:46941041-46941571	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr8:46941197-46941413	K562	blood:	n/a	n/a
7	BACH1	chr8:46947654-46948010	K562	blood:	n/a	n/a
8	BATF	chr8:46905994-46906308	GM12878	blood:	n/a	n/a
9	BATF	chr8:46906372-46906659	GM12878	blood:	n/a	n/a
10	BATF	chr8:46906370-46906776	GM12878	blood:	n/a	n/a
11	BCL11A	chr8:46951900-46952080	GM12878	blood:	n/a	n/a
12	BCL11A	chr8:46906458-46906651	GM12878	blood:	n/a	n/a
13	BCL11A	chr8:46906018-46906340	GM12878	blood:	n/a	n/a
14	BCL11A	chr8:46906364-46906971	GM12878	blood:	n/a	n/a
15	BHLHE40	chr8:46941082-46941569	K562	blood:	n/a	n/a
16	BHLHE40	chr8:46903018-46903391	HepG2	liver:	n/a	n/a
17	BHLHE40	chr8:47047525-47047640	K562	blood:	n/a	n/a
18	BHLHE40	chr8:46943192-46943391	K562	blood:	n/a	n/a
19	BHLHE40	chr8:46941196-46941455	GM12878	blood:	n/a	n/a
20	BHLHE40	chr8:46947643-46947854	K562	blood:	n/a	n/a
21	BHLHE40	chr8:47010522-47010548	GM12878	blood:	n/a	n/a
22	BHLHE40	chr8:47424515-47424559	GM12878	blood:	n/a	n/a
23	BHLHE40	chr8:46906352-46906671	HepG2	liver:	n/a	n/a
24	BRCA1	chr8:46943363-46943388	GM12878	blood:	n/a	n/a
25	BRCA1	chr8:46941199-46941397	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr8:46947751-46947982	Hela-S3	cervix:	n/a	n/a
27	BRCA1	chr8:46941198-46941413	GM12878	blood:	n/a	n/a
28	BRCA1	chr8:46947817-46948017	HepG2	liver:	n/a	n/a
29	BRCA1	chr8:46947645-46948018	GM12878	blood:	n/a	n/a
30	BRCA1	chr8:47213331-47213535	GM12878	blood:	n/a	n/a
31	BRCA1	chr8:46943192-46943497	Hela-S3	cervix:	n/a	n/a
32	BRCA1	chr8:46941122-46941455	H1-hESC	embryonic stem cell:	n/a	n/a
33	BRCA1	chr8:47128832-47128850	HepG2	liver:	n/a	n/a
34	BRCA1	chr8:46941195-46941450	HepG2	liver:	n/a	n/a
35	CBX3	chr8:46950708-46950925	K562	blood:	n/a	n/a
36	CBX3	chr8:47416966-47417169	K562	blood:	n/a	n/a
37	CCNT2	chr8:46941041-46941424	K562	blood:	n/a	n/a
38	CCNT2	chr8:47432567-47432751	K562	blood:	n/a	n/a
39	CEBPB	chr8:47333483-47333514	K562	blood:	n/a	n/a
40	CEBPB	chr8:47364252-47364625	HepG2	liver:	n/a	chr8:47364437-47364448
41	CEBPB	chr8:46933173-46933376	A549	lung:	n/a	n/a
42	CEBPB	chr8:47374682-47375049	MCF-7	breast:	n/a	n/a
43	CEBPB	chr8:47323407-47323734	HepG2	liver:	n/a	n/a
44	CEBPB	chr8:47368428-47368796	H1-hESC	embryonic stem cell:	n/a	n/a
45	CEBPB	chr8:47144487-47144545	K562	blood:	n/a	n/a
46	CEBPB	chr8:47433493-47433666	HepG2	liver:	n/a	chr8:47433563-47433574
47	CEBPB	chr8:46943365-46943388	K562	blood:	n/a	n/a
48	CEBPB	chr8:47364246-47364627	IMR90	lung:	n/a	chr8:47364437-47364448
49	CEBPB	chr8:47057114-47057285	K562	blood:	n/a	n/a
50	CEBPB	chr8:46942538-46942580	K562	blood:	n/a	chr8:46942556-46942567

(count:4524 , 50 per page) page: 1 2 3 4 5 6 7 ... 91

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:47165466-47165516	HUVEC	blood vessel:	n/a
2	chr8:47015665-47015715	NHDF-neo	bronchial:	n/a
3	chr8:47140781-47140831	SAEC	small airway:	n/a
4	chr8:47108510-47108560	HCT-116	colon:	n/a
5	chr8:47142166-47142216	HIPEpiC	eye:	n/a
6	chr8:47348339-47348389	ovcar-3	ovarian:	n/a
7	chr8:47112438-47112488	MCF-7	breast:	n/a
8	chr8:47108953-47109003	GM06990	blood:	n/a
9	chr8:47318649-47318699	SAEC	small airway:	n/a
10	chr8:47171722-47171772	HNPCEpiC	eye:	n/a
11	chr8:47165466-47165516	HUVEC	blood vessel:	n/a
12	chr8:47015665-47015715	NHDF-neo	bronchial:	n/a
13	chr8:47140781-47140831	SAEC	small airway:	n/a
14	chr8:47108510-47108560	HCT-116	colon:	n/a
15	chr8:47142166-47142216	HIPEpiC	eye:	n/a
16	chr8:47348339-47348389	ovcar-3	ovarian:	n/a
17	chr8:47112438-47112488	MCF-7	breast:	n/a
18	chr8:47108953-47109003	GM06990	blood:	n/a
19	chr8:47318649-47318699	SAEC	small airway:	n/a
20	chr8:47171722-47171772	HNPCEpiC	eye:	n/a
21	chr8:47109229-47109279	AG09309	skin:	n/a
22	chr8:47109311-47109361	HNPCEpiC	eye:	n/a
23	chr8:47171826-47171876	HCF	heart:	n/a
24	chr8:47108770-47108820	NHDF-neo	bronchial:	n/a
25	chr8:47108770-47108820	HPAEpiC	pulmonary alveolar:	n/a
26	chr8:47015640-47015690	LNCaP	prostate:	n/a
27	chr8:46951755-46951805	HepG2	liver:	n/a
28	chr8:47142166-47142216	PrEC	prostate:	n/a
29	chr8:47318698-47318748	NH-A	brain:	n/a
30	chr8:47171826-47171876	HEK293	kidney:	embryo
31	chr8:47130777-47130827	HEK293	kidney:	embryo
32	chr8:47318907-47318957	NHDF-neo	bronchial:	n/a
33	chr8:47109229-47109279	HEEpiC	esophagus:	n/a
34	chr8:47318907-47318957	HMEC	breast:	n/a
35	chr8:47174026-47174076	RPTEC	kidney:	n/a
36	chr8:47165292-47165342	NT2-D1	testis:	n/a
37	chr8:46951755-46951805	HMEC	breast:	n/a
38	chr8:47112438-47112488	BJ	skin:	n/a
39	chr8:47015829-47015879	GM06990	blood:	n/a
40	chr8:47046101-47046151	HepG2	liver:	n/a
41	chr8:47171722-47171772	HRPEpiC	eye:	n/a
42	chr8:47015425-47015475	HCT-116	colon:	n/a
43	chr8:47348070-47348120	GM12892	blood:	n/a
44	chr8:47119319-47119369	AG10803	skin:	n/a
45	chr8:47112230-47112280	HNPCEpiC	eye:	n/a
46	chr8:47120700-47120750	HEK293	kidney:	embryo
47	chr8:47140781-47140831	SK-N-MC	brain:	n/a
48	chr8:47144915-47144965	SAEC	small airway:	n/a
49	chr8:47046101-47046151	MCF10A-Er-Src	breast:	n/a
50	chr8:47165466-47165516	GM12878	blood:	n/a

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:21665377..21666008-chr8:46940755..46941391,3	MCF-7	breast:
2	chr1:156185756..156186427-chr8:46940757..46941368,2	K562	blood:
3	chr22:28194390..28194890-chr8:46940890..46941394,2	MCF-7	breast:
4	chr8:46940855..46941726-chr8:47130252..47130754,2	K562	blood:
5	chr20:26190442..26190988-chr8:46940868..46941390,2	MCF-7	breast:
6	chr8:47152207..47152786-chr8:47399264..47399945,2	MCF-7	breast:
7	chr8:47144016..47144925-chr8:47484500..47485152,3	MCF-7	breast:
8	chr8:47152207..47152786-chr8:47399264..47399945,2	MCF-7	breast:
9	chr3:19097583..19098083-chr8:46940757..46941373,3	MCF-7	breast:
10	chr2:86830620..86831120-chr8:47284541..47285069,2	MCF-7	breast:
11	chr8:47168205..47168775-chr8:47479656..47480472,2	MCF-7	breast:
12	chr19:23254194..23254711-chr8:46940869..46941389,2	MCF-7	breast:
13	chr19:35614212..35616054-chr8:47337776..47339296,2	MCF-7	breast:
14	chr8:46948914..46951388-chr8:46959571..46961840,2	K562	blood:
15	chr8:46940536..46941325-chr8:47868294..47869211,2	K562	blood:
16	chr8:47059851..47061946-chr8:47064644..47066356,2	MCF-7	breast:
17	chr4:107699957..107700477-chr8:46940755..46941372,3	MCF-7	breast:
18	chr22:25265936..25266456-chr8:46940874..46941393,2	MCF-7	breast:
19	chr8:47103663..47106274-chr8:47108285..47110930,2	K562	blood:
20	chr8:46948914..46951388-chr8:46959571..46961840,2	K562	blood:
21	chr19:21665376..21665988-chr8:46940890..46941394,3	MCF-7	breast:
22	chr8:46850638..46851140-chr8:47405865..47406365,2	MCF-7	breast:
23	chr19:23254197..23254711-chr8:46940755..46941394,2	K562	blood:
24	chr8:46940678..46941746-chr8:47130003..47131748,8	MCF-7	breast:
25	chr11:10829784..10830763-chr8:46940754..46941373,2	MCF-7	breast:
26	chr8:46940855..46941726-chr8:47130252..47130754,2	K562	blood:
27	chr8:46940678..46941746-chr8:47130003..47131748,8	MCF-7	breast:
28	chr10:42530427..42532590-chr8:46977725..46979226,2	MCF-7	breast:
29	chr16:1494211..1494730-chr8:46940868..46941388,2	MCF-7	breast:
30	chr8:47059851..47061946-chr8:47064644..47066356,2	MCF-7	breast:
31	chr1:112439856..112440376-chr8:46940777..46941392,3	MCF-7	breast:
32	chr2:133016687..133017416-chr8:46947342..46948320,4	MCF-7	breast:
33	chr8:47103663..47106274-chr8:47108285..47110930,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000255915	TF binding region
ENSG00000255915	CpG island
ENSG00000197599	chromatin interactions
ENSG00000269543	chromatin interactions
ENSG00000110321	chromatin interactions
ENSG00000227195	chromatin interactions

Extended variants
information (count: 27361 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:27361 , 50 per page) page: 1 2 3 4 5 6 7 ... 548

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566604679	chr8:46902923-46902924	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs113167362	chr8:46902926-46902927	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs10099133	chr8:46902937-46902938	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs565272560	chr8:46902966-46902967	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs535519091	chr8:46902974-46902975	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs143801996	chr8:46902987-46902988	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs555409960	chr8:46902995-46902996	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs139656774	chr8:46903011-46903012	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs145526574	chr8:46903023-46903024	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs112745948	chr8:46903038-46903039	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs574947326	chr8:46903067-46903068	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs188550936	chr8:46903076-46903077	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs543951430	chr8:46903077-46903078	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs202024844	chr8:46903094-46903095	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs192961554	chr8:46903104-46903105	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs112019597	chr8:46903126-46903127	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs112821166	chr8:46903132-46903133	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs200893064	chr8:46903155-46903156	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs113736303	chr8:46903161-46903162	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs199891799	chr8:46903168-46903169	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs557418969	chr8:46903174-46903175	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs374179182	chr8:46903188-46903189	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs112032965	chr8:46903191-46903192	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs202101323	chr8:46903200-46903201	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs183473189	chr8:46903201-46903202	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs577114483	chr8:46903205-46903206	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs545829979	chr8:46903206-46903207	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs112303809	chr8:46903212-46903213	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs200477041	chr8:46903216-46903217	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs11775071	chr8:46903223-46903224	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs113271658	chr8:46903230-46903231	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs189223577	chr8:46903247-46903248	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs561577235	chr8:46903257-46903258	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs181165062	chr8:46903260-46903261	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs528441698	chr8:46903261-46903262	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs112578703	chr8:46903278-46903279	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs541975113	chr8:46903285-46903286	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs200417554	chr8:46903286-46903287	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs368655179	chr8:46903296-46903297	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs562171902	chr8:46903298-46903299	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs184881103	chr8:46903302-46903303	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs112732697	chr8:46903304-46903305	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs113610993	chr8:46903307-46903308	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs74750492	chr8:46903331-46903332	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs199630579	chr8:46903334-46903335	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs80235195	chr8:46903340-46903341	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs111954608	chr8:46903352-46903353	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs201415745	chr8:46903378-46903379	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs530280167	chr8:46903382-46903383	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs78440917	chr8:46903408-46903409	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
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
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Oral cancer	21386901	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	20607354	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	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	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
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	20409316	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
Schizophrenia	20967226	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Autism	20841430	CNVD
Tetralogy of Fallot	22912587	CNVD

Chromatin state (count:518 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:46896800-46911200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr8:46900600-46903000	Weak transcription	HUVEC	blood vessel
3	chr8:46901400-46908200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr8:46901600-46903800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
5	chr8:46901800-46903000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr8:46901800-46911400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:46902200-46903000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr8:46902400-46903000	Weak transcription	NH-A	brain
9	chr8:46902400-46908200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
10	chr8:46902600-46903400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:46902800-46903600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
12	chr8:46903000-46903400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
13	chr8:46903000-46903400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:46903000-46903400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr8:46903000-46903400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:46903000-46903400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
17	chr8:46903000-46903400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
18	chr8:46903000-46903400	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
19	chr8:46903000-46903400	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
20	chr8:46903000-46903400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
21	chr8:46903000-46903400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
22	chr8:46903000-46903400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
23	chr8:46903000-46903400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr8:46903000-46903400	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
25	chr8:46903000-46903400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr8:46903000-46903400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr8:46903000-46903400	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
28	chr8:46903000-46903400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
29	chr8:46903000-46903400	ZNF genes & repeats	Colon Smooth Muscle	Colon
30	chr8:46903000-46903400	ZNF genes & repeats	Fetal Heart	heart
31	chr8:46903000-46903400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
32	chr8:46903000-46903400	ZNF genes & repeats	Left Ventricle	heart
33	chr8:46903000-46903400	Active TSS	Ovary	ovary
34	chr8:46903000-46903400	Active TSS	Psoas Muscle	Psoas
35	chr8:46903000-46903400	ZNF genes & repeats	Stomach Mucosa	stomach
36	chr8:46903000-46903400	ZNF genes & repeats	HepG2	liver
37	chr8:46903000-46903400	ZNF genes & repeats	K562	blood
38	chr8:46903000-46903400	ZNF genes & repeats	NH-A	brain
39	chr8:46903000-46903600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
40	chr8:46903000-46903600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
41	chr8:46903000-46903600	ZNF genes & repeats	HUVEC	blood vessel
42	chr8:46903200-46903400	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
43	chr8:46903200-46903400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
44	chr8:46903200-46903400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
45	chr8:46903200-46903400	ZNF genes & repeats	HMEC	breast
46	chr8:46903200-46903400	ZNF genes & repeats	Osteobl	bone
47	chr8:46903400-46906600	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr8:46903400-46907600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr8:46903600-46907600	Weak transcription	HUVEC	blood vessel
50	chr8:46906400-46906800	ZNF genes & repeats	Primary hematopoietic stem cells	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links