Variant report

Variant	nsv871538
Chromosome Location	chr1:84633116-84717983
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:508)
CpG islands
(count:61)
Chromatin interactive
region (count:22)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:4)

(count:508 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr1:84713080-84713702	K562	blood:	n/a	n/a
2	ATF1	chr1:84691434-84691612	K562	blood:	n/a	n/a
3	ATF3	chr1:84712971-84713766	HCT-116	colon:	n/a	n/a
4	ATF3	chr1:84712947-84713599	A549	lung:	n/a	n/a
5	ATF3	chr1:84639743-84640360	A549	lung:	n/a	n/a
6	ATF3	chr1:84713134-84713579	K562	blood:	n/a	n/a
7	BCL3	chr1:84712912-84713611	A549	lung:	n/a	n/a
8	BCL3	chr1:84712879-84713635	A549	lung:	n/a	n/a
9	BHLHE40	chr1:84713184-84713547	K562	blood:	n/a	n/a
10	CBX3	chr1:84712907-84713811	HCT-116	colon:	n/a	n/a
11	CBX3	chr1:84688887-84689091	K562	blood:	n/a	n/a
12	CBX3	chr1:84639583-84640587	HCT-116	colon:	n/a	n/a
13	CBX3	chr1:84674603-84675127	HCT-116	colon:	n/a	n/a
14	CBX3	chr1:84712916-84713748	HCT-116	colon:	n/a	n/a
15	CBX3	chr1:84639712-84640465	HCT-116	colon:	n/a	n/a
16	CCNT2	chr1:84711404-84711593	K562	blood:	n/a	n/a
17	CCNT2	chr1:84713360-84713562	K562	blood:	n/a	n/a
18	CEBPB	chr1:84641972-84642191	A549	lung:	n/a	chr1:84642138-84642149 chr1:84642137-84642150
19	CEBPB	chr1:84641972-84642221	IMR90	lung:	n/a	chr1:84642138-84642149 chr1:84642137-84642150
20	CEBPB	chr1:84639591-84640709	HCT-116	colon:	n/a	n/a
21	CEBPB	chr1:84713119-84713844	A549	lung:	n/a	n/a
22	CEBPB	chr1:84646427-84646520	HepG2	liver:	n/a	n/a
23	CEBPB	chr1:84713298-84713479	K562	blood:	n/a	n/a
24	CEBPB	chr1:84712970-84713972	A549	lung:	n/a	n/a
25	CEBPB	chr1:84716174-84716443	HepG2	liver:	n/a	chr1:84716354-84716367 chr1:84716301-84716318
26	CEBPB	chr1:84716166-84716424	IMR90	lung:	n/a	chr1:84716354-84716367 chr1:84716301-84716318
27	CEBPB	chr1:84712526-84712776	IMR90	lung:	n/a	n/a
28	CEBPB	chr1:84712408-84712879	A549	lung:	n/a	n/a
29	CEBPB	chr1:84713110-84713757	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr1:84640217-84640541	A549	lung:	n/a	n/a
31	CEBPB	chr1:84641970-84642235	HepG2	liver:	n/a	chr1:84642138-84642149 chr1:84642137-84642150
32	CEBPB	chr1:84712503-84712775	A549	lung:	n/a	n/a
33	CEBPB	chr1:84716152-84716456	A549	lung:	n/a	chr1:84716354-84716367 chr1:84716301-84716318
34	CEBPB	chr1:84713194-84713861	IMR90	lung:	n/a	n/a
35	CEBPB	chr1:84639642-84640513	HCT-116	colon:	n/a	n/a
36	CEBPB	chr1:84716173-84716480	K562	blood:	n/a	chr1:84716354-84716367 chr1:84716301-84716318
37	CEBPB	chr1:84713685-84713834	K562	blood:	n/a	n/a
38	CEBPB	chr1:84639922-84640406	Hela-S3	cervix:	n/a	n/a
39	CEBPD	chr1:84713264-84713696	K562	blood:	n/a	n/a
40	CEBPD	chr1:84713288-84713673	K562	blood:	n/a	n/a
41	CHD1	chr1:84712968-84713901	IMR90	lung:	n/a	n/a
42	CHD2	chr1:84713269-84713513	Hela-S3	cervix:	n/a	n/a
43	CREB1	chr1:84713192-84713612	A549	lung:	n/a	n/a
44	CREB1	chr1:84713035-84713385	A549	lung:	n/a	n/a
45	CREB1	chr1:84713174-84713510	GM12878	blood:	n/a	n/a
46	CTCF	chr1:84713240-84713390	HCT-116	colon:	n/a	n/a
47	CTCF	chr1:84689700-84689850	GM12865	blood:	n/a	n/a
48	CTCF	chr1:84689880-84690030	HEK293	kidney:	n/a	n/a
49	CTCF	chr1:84689860-84689953	MCF-7	breast:	n/a	n/a
50	CTCF	chr1:84711195-84711253	Hela-S3	cervix:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:84709527-84709577	A549	lung:	n/a
2	chr1:84709527-84709577	H1-hESC	embryonic stem cell:	embryo
3	chr1:84709527-84709577	AoSMC	blood vessel:	n/a
4	chr1:84709527-84709577	NH-A	brain:	n/a
5	chr1:84709527-84709577	HEK293	kidney:	embryo
6	chr1:84709527-84709577	K562	blood:	n/a
7	chr1:84709527-84709577	MCF10A-Er-Src	breast:	n/a
8	chr1:84709527-84709577	GM12878	blood:	n/a
9	chr1:84709527-84709577	HCT-116	colon:	n/a
10	chr1:84709527-84709577	PFSK-1	brain:	n/a
11	chr1:84709527-84709577	PrEC	prostate:	n/a
12	chr1:84709527-84709577	GM06990	blood:	n/a
13	chr1:84709527-84709577	GM12891	blood:	n/a
14	chr1:84709527-84709577	SKMC	muscle:	n/a
15	chr1:84709527-84709577	Hela-S3	cervix:	n/a
16	chr1:84709527-84709577	GM12892	blood:	n/a
17	chr1:84709527-84709577	Hepatocyte	liver:	n/a
18	chr1:84709527-84709577	HMEC	breast:	n/a
19	chr1:84709527-84709577	NHDF-neo	bronchial:	n/a
20	chr1:84709527-84709577	HRCEpiC	kidney:	n/a
21	chr1:84709527-84709577	RPTEC	kidney:	n/a
22	chr1:84709527-84709577	SK-N-MC	brain:	n/a
23	chr1:84709527-84709577	AG04449	skin:	fetal
24	chr1:84709527-84709577	HCPEpiC	choroid plexus:	n/a
25	chr1:84709527-84709577	ovcar-3	ovarian:	n/a
26	chr1:84709527-84709577	SK-N-SH	brain:	n/a
27	chr1:84709527-84709577	NHBE	bronchial:	n/a
28	chr1:84709527-84709577	BE2_C	brain:	n/a
29	chr1:84709527-84709577	SK-N-SH_RA	brain:	n/a
30	chr1:84709527-84709577	ProgFib	skin:	n/a
31	chr1:84709527-84709577	BJ	skin:	n/a
32	chr1:84709527-84709577	HCM	heart:	n/a
33	chr1:84709527-84709577	AG09319	gingival:	n/a
34	chr1:84709527-84709577	HRPEpiC	eye:	n/a
35	chr1:84709527-84709577	LNCaP	prostate:	n/a
36	chr1:84709527-84709577	HL-60	blood:	n/a
37	chr1:84709527-84709577	HUVEC	blood vessel:	n/a
38	chr1:84709527-84709577	AG09309	skin:	n/a
39	chr1:84709527-84709577	HCF	heart:	n/a
40	chr1:84709527-84709577	ECC-1	luminal epithelium:	n/a
41	chr1:84709527-84709577	Caco-2	colon:	n/a
42	chr1:84709527-84709577	U87	brain:	n/a
43	chr1:84709527-84709577	PANC-1	pancreas:	n/a
44	chr1:84709527-84709577	SAEC	small airway:	n/a
45	chr1:84709527-84709577	HNPCEpiC	eye:	n/a
46	chr1:84709527-84709577	NB4	blood:	n/a
47	chr1:84709527-84709577	HRE	kidney:	n/a
48	chr1:84709527-84709577	HPAEpiC	pulmonary alveolar:	n/a
49	chr1:84709527-84709577	IMR90	lung:	fetal
50	chr1:84709527-84709577	NT2-D1	testis:	n/a

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:84642752..84644786-chr1:84646959..84648659,2	K562	blood:
2	chr1:84701446..84703629-chr1:84722658..84725060,2	MCF-7	breast:
3	chr1:84699628..84701684-chr1:84763119..84765204,2	MCF-7	breast:
4	chr1:84662036..84663948-chr1:84669561..84672181,4	K562	blood:
5	chr1:84671668..84674166-chr1:84678982..84681039,2	MCF-7	breast:
6	chr1:84639501..84640001-chr11:32381239..32382124,2	MCF-7	breast:
7	chr1:84633326..84635826-chr1:84640053..84642677,3	K562	blood:
8	chr1:84671668..84674166-chr1:84678982..84681039,2	MCF-7	breast:
9	chr1:84633326..84635826-chr1:84640053..84642677,3	K562	blood:
10	chr1:84633326..84636042-chr1:84640053..84642677,3	K562	blood:
11	chr1:84633326..84636042-chr1:84640053..84642677,3	K562	blood:
12	chr1:84707348..84709881-chr1:84716416..84718748,2	K562	blood:
13	chr1:84703877..84705548-chr1:84707085..84709584,2	K562	blood:
14	chr1:84540791..84543154-chr1:84633401..84635166,2	K562	blood:
15	chr1:84662036..84663948-chr1:84669561..84672181,4	K562	blood:
16	chr1:84628795..84632177-chr1:84635427..84638265,3	K562	blood:
17	chr1:84708889..84710683-chr1:84712706..84714926,2	MCF-7	breast:
18	chr1:84639020..84640539-chr1:84647151..84649519,2	MCF-7	breast:
19	chr1:84639020..84640539-chr1:84647151..84649519,2	MCF-7	breast:
20	chr1:84717533..84719612-chr1:84721999..84724485,2	K562	blood:
21	chr1:84707348..84709881-chr1:84716416..84718748,2	K562	blood:
22	chr1:84703877..84705548-chr1:84707085..84709584,2	K562	blood:

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SAMD13-1	chr1:84644860-84644903	NONHSAT004190
2	lnc-SAMD13-1	chr1:84644861-84644903	NONHSAT004191
3	lnc-PRKACB-5	chr1:84710017-84710260	NONHSAT004193
4	lnc-SAMD13-1	chr1:84639012-84639035	NONHSAT004188
5	lnc-SAMD13-1	chr1:84639012-84639035	NONHSAT004190
6	lnc-SAMD13-1	chr1:84644860-84644921	NONHSAT004188
7	lnc-SAMD13-1	chr1:84640716-84640739	NONHSAT004188
8	lnc-SAMD13-1	chr1:84640716-84640739	NONHSAT004190
9	lnc-SAMD13-1	chr1:84641482-84641490	NONHSAT004190
10	lnc-SAMD13-1	chr1:84639013-84639035	NONHSAT004191
11	lnc-SAMD13-1	chr1:84640717-84640739	NONHSAT004191

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	PRKACB	hsa-miR-93-5p	chr1:84702387-84702393
2	PRKACB	hsa-miR-93-5p	chr1:84702372-84702394
3	PRKACB	hsa-miR-19b-3p	chr1:84702375-84702399
4	PRKACB	hsa-miR-19b-3p	chr1:84701025-84701031

Variant related genes	Relation type
ENSG00000226970	TF binding region
PRKACB	TF binding region
ENSG00000226970	CpG island
PRKACB	CpG island
ENSG00000226970	chromatin interactions
ENSG00000142875	chromatin interactions
ENSG00000203943	chromatin interactions
GCNT2	miRNA target sites
GCH1	miRNA target sites

Extended variants
information (count: 2994 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:2994 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56123504	chr1:84633116-84633117	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs549185824	chr1:84633131-84633132	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs540445054	chr1:84633157-84633158	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs373050889	chr1:84633187-84633188	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs554060758	chr1:84633198-84633199	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs563041956	chr1:84633236-84633237	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs185214415	chr1:84633280-84633281	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs531596273	chr1:84633439-84633440	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs149261549	chr1:84633553-84633554	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs562608526	chr1:84633576-84633577	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs531218361	chr1:84633604-84633605	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs551760492	chr1:84633641-84633642	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs72710870	chr1:84633686-84633687	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs370971958	chr1:84633834-84633835	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs541800881	chr1:84633950-84633951	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs186835329	chr1:84633998-84633999	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs375547337	chr1:84634012-84634013	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs561786897	chr1:84634078-84634079	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs116547985	chr1:84634081-84634082	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs547646392	chr1:84634127-84634128	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs556475927	chr1:84634138-84634139	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs570532000	chr1:84634146-84634147	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs570365618	chr1:84634224-84634225	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs368145195	chr1:84634301-84634302	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs549796872	chr1:84634312-84634313	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs569890106	chr1:84634338-84634339	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs191767439	chr1:84634364-84634365	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs183506090	chr1:84634382-84634383	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs144500563	chr1:84634385-84634386	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs539368822	chr1:84634394-84634395	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs75574709	chr1:84634458-84634459	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs148390448	chr1:84634561-84634562	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs141653821	chr1:84634608-84634609	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577356990	chr1:84634609-84634610	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539983055	chr1:84634611-84634612	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188287458	chr1:84634644-84634645	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575711019	chr1:84634651-84634652	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541860469	chr1:84634676-84634677	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181802475	chr1:84634734-84634735	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185863221	chr1:84634745-84634746	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189940746	chr1:84634758-84634759	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564344600	chr1:84634859-84634860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535687790	chr1:84634876-84634877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532989293	chr1:84634913-84634914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs76882772	chr1:84634982-84634983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs12077806	chr1:84635101-84635102	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs181628876	chr1:84635149-84635150	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs374287454	chr1:84635157-84635158	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs537002352	chr1:84635181-84635182	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs144803274	chr1:84635190-84635191	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
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
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	16397240	CNVD

Chromatin state (count:1877 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84610400-84633400	Weak transcription	Fetal Kidney	kidney
2	chr1:84614000-84633800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr1:84615800-84634800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:84616200-84635200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:84622400-84635800	Weak transcription	Small Intestine	intestine
6	chr1:84623000-84639200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:84624000-84651800	Weak transcription	Thymus	Thymus
8	chr1:84624800-84633200	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr1:84625600-84635600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr1:84625800-84634000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:84627600-84635400	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr1:84629200-84636400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr1:84629200-84654000	Weak transcription	Spleen	Spleen
14	chr1:84629400-84644400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr1:84629600-84633800	Active TSS	Brain Anterior Caudate	brain
16	chr1:84629600-84634000	Active TSS	Fetal Brain Female	brain
17	chr1:84629800-84633200	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr1:84630200-84634200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr1:84630600-84633800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr1:84630600-84635200	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr1:84630600-84639800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr1:84630600-84640400	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr1:84630800-84633800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:84630800-84648200	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr1:84631000-84636400	Enhancers	Primary T cells from cord blood	blood
26	chr1:84631200-84633800	Weak transcription	Primary B cells from cord blood	blood
27	chr1:84632400-84633200	Enhancers	GM12878-XiMat	blood
28	chr1:84632400-84634400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:84632600-84635400	Weak transcription	HUVEC	blood vessel
30	chr1:84632600-84647800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr1:84632800-84633200	Enhancers	Fetal Brain Male	brain
32	chr1:84632800-84633400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr1:84632800-84633800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr1:84632800-84633800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr1:84632800-84633800	Weak transcription	Brain Substantia Nigra	brain
36	chr1:84632800-84634000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:84632800-84636000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr1:84632800-84647400	Weak transcription	Dnd41	blood
39	chr1:84633000-84633200	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr1:84633000-84633800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:84633000-84633800	Weak transcription	Brain Hippocampus Middle	brain
42	chr1:84633000-84634000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr1:84633000-84634800	Enhancers	Brain Angular Gyrus	brain
44	chr1:84633000-84648400	Weak transcription	Primary B cells from peripheral blood	blood
45	chr1:84633000-84649600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr1:84633200-84633400	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr1:84633200-84633600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr1:84633200-84633600	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr1:84633200-84633600	Weak transcription	Fetal Brain Male	brain
50	chr1:84633400-84633600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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Variant report

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