Variant report

Variant	nsv2465
Chromosome Location	chr1:113731589-113776605
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:596)
CpG islands
(count:488)
Chromatin interactive
region (count:58)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:596 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:113760125-113760398	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:113752868-113753158	K562	blood:	n/a	n/a
3	ARID3A	chr1:113760399-113760830	K562	blood:	n/a	n/a
4	ATF1	chr1:113760489-113760843	K562	blood:	n/a	n/a
5	ATF1	chr1:113752909-113753284	K562	blood:	n/a	n/a
6	ATF2	chr1:113734252-113734941	GM12878	blood:	n/a	n/a
7	ATF2	chr1:113768688-113769120	GM12878	blood:	n/a	chr1:113769029-113769043
8	ATF3	chr1:113760115-113760367	HepG2	liver:	n/a	n/a
9	BATF	chr1:113734414-113734788	GM12878	blood:	n/a	n/a
10	BATF	chr1:113768699-113769130	GM12878	blood:	n/a	n/a
11	BATF	chr1:113768681-113769047	GM12878	blood:	n/a	n/a
12	BCL11A	chr1:113768812-113769050	GM12878	blood:	n/a	chr1:113768876-113768889 chr1:113768962-113768971
13	BCL11A	chr1:113734394-113734824	GM12878	blood:	n/a	n/a
14	BCL3	chr1:113768747-113769016	GM12878	blood:	n/a	chr1:113768876-113768889 chr1:113768962-113768971
15	BCL3	chr1:113768818-113769113	GM12878	blood:	n/a	chr1:113768876-113768889 chr1:113768962-113768971
16	BHLHE40	chr1:113752955-113753297	K562	blood:	n/a	n/a
17	BHLHE40	chr1:113768795-113769050	GM12878	blood:	n/a	n/a
18	BHLHE40	chr1:113762538-113762853	K562	blood:	n/a	n/a
19	BHLHE40	chr1:113760285-113760943	K562	blood:	n/a	n/a
20	BHLHE40	chr1:113740486-113740738	K562	blood:	n/a	n/a
21	BHLHE40	chr1:113754298-113754309	K562	blood:	n/a	n/a
22	CBX3	chr1:113756464-113756876	K562	blood:	n/a	n/a
23	CBX3	chr1:113752823-113753284	K562	blood:	n/a	n/a
24	CCNT2	chr1:113760445-113761013	K562	blood:	n/a	n/a
25	CCNT2	chr1:113752948-113753276	K562	blood:	n/a	n/a
26	CEBPB	chr1:113766157-113766611	A549	lung:	n/a	n/a
27	CEBPB	chr1:113766189-113766559	HepG2	liver:	n/a	n/a
28	CEBPB	chr1:113767778-113768022	HepG2	liver:	n/a	chr1:113767846-113767857
29	CEBPB	chr1:113766235-113766552	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr1:113766197-113766563	HepG2	liver:	n/a	n/a
31	CEBPB	chr1:113744399-113744789	MCF-7	breast:	n/a	n/a
32	CEBPB	chr1:113749100-113749433	HepG2	liver:	n/a	chr1:113749243-113749254 chr1:113749243-113749256
33	CEBPB	chr1:113753008-113753307	K562	blood:	n/a	n/a
34	CEBPB	chr1:113769456-113769615	K562	blood:	n/a	n/a
35	CEBPB	chr1:113760163-113760452	HepG2	liver:	n/a	n/a
36	CEBPB	chr1:113766182-113766581	K562	blood:	n/a	n/a
37	CEBPB	chr1:113767759-113767878	IMR90	lung:	n/a	chr1:113767846-113767857
38	CEBPB	chr1:113744521-113744790	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr1:113744450-113744736	ECC-1	luminal epithelium:	n/a	n/a
40	CEBPB	chr1:113736825-113737048	A549	lung:	n/a	chr1:113736959-113736970
41	CEBPB	chr1:113766239-113766510	HepG2	liver:	n/a	n/a
42	CEBPB	chr1:113749123-113749399	K562	blood:	n/a	chr1:113749243-113749254 chr1:113749243-113749256
43	CEBPB	chr1:113741271-113741469	K562	blood:	n/a	chr1:113741375-113741386
44	CEBPB	chr1:113766155-113766637	MCF-7	breast:	n/a	n/a
45	CEBPB	chr1:113766247-113766599	MCF-7	breast:	n/a	n/a
46	CEBPB	chr1:113749083-113749425	HepG2	liver:	n/a	chr1:113749243-113749254 chr1:113749243-113749256
47	CEBPB	chr1:113766158-113766517	K562	blood:	n/a	n/a
48	CEBPB	chr1:113766212-113766554	IMR90	lung:	n/a	n/a
49	CEBPB	chr1:113744525-113744822	MCF-7	breast:	n/a	n/a
50	CEBPB	chr1:113749031-113749470	MCF-7	breast:	n/a	chr1:113749243-113749254 chr1:113749243-113749256

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:113749386-113749436	SK-N-MC	brain:	n/a
2	chr1:113741705-113741755	CMK	blood:	n/a
3	chr1:113741631-113741681	NB4	blood:	n/a
4	chr1:113741705-113741755	IMR90	lung:	fetal
5	chr1:113749386-113749436	HMEC	breast:	n/a
6	chr1:113741483-113741533	Jurkat	blood:	n/a
7	chr1:113750056-113750106	BE2_C	brain:	n/a
8	chr1:113741483-113741533	HepG2	liver:	n/a
9	chr1:113749386-113749436	MCF10A-Er-Src	breast:	n/a
10	chr1:113749386-113749436	NB4	blood:	n/a
11	chr1:113741483-113741533	NHDF-neo	bronchial:	n/a
12	chr1:113741705-113741755	RPTEC	kidney:	n/a
13	chr1:113750056-113750106	AG09319	gingival:	n/a
14	chr1:113750056-113750106	NHBE	bronchial:	n/a
15	chr1:113742602-113742652	AG09319	gingival:	n/a
16	chr1:113738233-113738283	AG04449	skin:	fetal
17	chr1:113741483-113741533	NH-A	brain:	n/a
18	chr1:113741483-113741533	AG04450	lung:	fetal
19	chr1:113742602-113742652	GM12892	blood:	n/a
20	chr1:113750056-113750106	GM12892	blood:	n/a
21	chr1:113749386-113749436	Hepatocyte	liver:	n/a
22	chr1:113741705-113741755	PFSK-1	brain:	n/a
23	chr1:113749386-113749436	NT2-D1	testis:	n/a
24	chr1:113742602-113742652	HEK293	kidney:	embryo
25	chr1:113749386-113749436	HL-60	blood:	n/a
26	chr1:113741744-113741794	RPTEC	kidney:	n/a
27	chr1:113741631-113741681	U87	brain:	n/a
28	chr1:113741483-113741533	HEEpiC	esophagus:	n/a
29	chr1:113749386-113749436	SK-N-SH_RA	brain:	n/a
30	chr1:113741705-113741755	GM06990	blood:	n/a
31	chr1:113750056-113750106	HRCEpiC	kidney:	n/a
32	chr1:113749386-113749436	Jurkat	blood:	n/a
33	chr1:113741744-113741794	NB4	blood:	n/a
34	chr1:113741744-113741794	HCT-116	colon:	n/a
35	chr1:113750056-113750106	HRPEpiC	eye:	n/a
36	chr1:113741705-113741755	K562	blood:	n/a
37	chr1:113749386-113749436	CMK	blood:	n/a
38	chr1:113742602-113742652	GM12878	blood:	n/a
39	chr1:113749386-113749436	SKMC	muscle:	n/a
40	chr1:113741705-113741755	SK-N-MC	brain:	n/a
41	chr1:113741483-113741533	MCF-7	breast:	n/a
42	chr1:113750056-113750106	RPTEC	kidney:	n/a
43	chr1:113738233-113738283	HRCEpiC	kidney:	n/a
44	chr1:113738233-113738283	PFSK-1	brain:	n/a
45	chr1:113742602-113742652	NHDF-neo	bronchial:	n/a
46	chr1:113738233-113738283	PANC-1	pancreas:	n/a
47	chr1:113741483-113741533	MCF10A-Er-Src	breast:	n/a
48	chr1:113741483-113741533	AG04449	skin:	fetal
49	chr1:113741483-113741533	LNCaP	prostate:	n/a
50	chr1:113750056-113750106	GM12878	blood:	n/a

(count:58 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:113761686..113762754-chr1:113995460..113996204,3	MCF-7	breast:
2	chr1:113734249..113736270-chr1:113809547..113812502,2	K562	blood:
3	chr1:113751160..113752973-chr1:113930438..113931950,2	MCF-7	breast:
4	chr1:113750846..113752700-chr1:113930729..113933907,3	MCF-7	breast:
5	chr1:113761704..113762671-chr1:113930964..113931744,2	MCF-7	breast:
6	chr1:113768531..113773204-chr1:113774249..113779816,5	K562	blood:
7	chr1:113745940..113748436-chr1:113750123..113752208,2	K562	blood:
8	chr1:113733582..113735336-chr1:113738656..113740345,2	K562	blood:
9	chr1:113733582..113735336-chr1:113738656..113740345,2	K562	blood:
10	chr1:113772210..113774219-chr17:77817416..77819806,2	MCF-7	breast:
11	chr1:113733655..113735454-chr1:113735620..113737408,2	MCF-7	breast:
12	chr1:113737275..113741073-chr1:113748571..113751265,3	MCF-7	breast:
13	chr1:113748482..113750520-chr1:113931464..113934398,3	MCF-7	breast:
14	chr1:113737275..113741073-chr1:113748571..113751265,3	MCF-7	breast:
15	chr1:113679582..113681809-chr1:113760722..113762364,2	MCF-7	breast:
16	chr1:113743940..113745452-chr1:113932013..113934178,2	MCF-7	breast:
17	chr1:113763329..113765961-chr1:113769368..113771100,2	MCF-7	breast:
18	chr1:113737599..113739431-chr1:113933048..113934641,2	MCF-7	breast:
19	chr1:113737370..113741159-chr1:113741484..113744250,4	K562	blood:
20	chr1:113749316..113750880-chr1:113751390..113752895,2	MCF-7	breast:
21	chr1:113733655..113735454-chr1:113735620..113737408,2	MCF-7	breast:
22	chr1:113733744..113735445-chr1:113739417..113740943,2	MCF-7	breast:
23	chr1:113614313..113616240-chr1:113768721..113771106,2	K562	blood:
24	chr1:113760807..113763384-chr1:113931040..113933988,3	MCF-7	breast:
25	chr1:113737370..113741159-chr1:113741484..113744250,4	K562	blood:
26	chr1:113734109..113735807-chr1:113932440..113934771,2	MCF-7	breast:
27	chr1:113768531..113773204-chr1:113774249..113779816,5	K562	blood:
28	chr1:113763329..113765961-chr1:113769368..113771100,2	MCF-7	breast:
29	chr1:113738414..113740068-chr1:113740785..113743082,3	K562	blood:
30	chr1:113749063..113750761-chr1:113929423..113931147,2	MCF-7	breast:
31	chr1:113740994..113743593-chr1:113752886..113755498,2	K562	blood:
32	chr1:113742202..113745553-chr1:113748111..113752057,3	MCF-7	breast:
33	chr1:113736589..113741335-chr1:113931781..113934442,4	MCF-7	breast:
34	chr1:113773813..113776016-chr1:113932126..113934139,2	MCF-7	breast:
35	chr1:113756505..113758878-chr1:113759200..113761215,2	K562	blood:
36	chr1:113753267..113756023-chr1:113773513..113775460,2	K562	blood:
37	chr1:113762744..113764884-chr1:113937680..113940514,2	MCF-7	breast:
38	chr1:113751528..113753690-chr1:113759429..113761422,2	MCF-7	breast:
39	chr1:113733744..113735445-chr1:113739417..113740943,2	MCF-7	breast:
40	chr1:113771820..113773761-chr1:113932218..113933968,2	MCF-7	breast:
41	chr1:113734546..113737390-chr1:113742167..113744163,2	K562	blood:
42	chr1:113747827..113751030-chr1:113754652..113756570,3	K562	blood:
43	chr1:113756505..113758878-chr1:113759200..113761215,2	K562	blood:
44	chr1:113747827..113751030-chr1:113754652..113756570,3	K562	blood:
45	chr1:113768494..113771244-chr1:113772391..113774793,2	K562	blood:
46	chr1:113742202..113745553-chr1:113748111..113752057,3	MCF-7	breast:
47	chr1:113771704..113774186-chr1:113777129..113779807,2	K562	blood:
48	chr1:113751528..113753690-chr1:113759429..113761422,2	MCF-7	breast:
49	chr1:113736472..113740505-chr1:113740581..113744406,4	MCF-7	breast:
50	chr1:113753267..113756023-chr1:113773513..113775460,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC16A1-6	chr1:113739404-113741312	NONHSAT005321
2	lnc-SLC16A1-6	chr1:113744395-113744464	NONHSAT005321
3	lnc-SLC16A1-6	chr1:113748684-113748875	NONHSAT005321

No data

Variant related genes	Relation type
ENSG00000236887	TF binding region
ENSG00000236887	CpG island
ENSG00000081026	chromatin interactions
ENSG00000198799	chromatin interactions
ENSG00000236887	chromatin interactions
ENSG00000238198	chromatin interactions

Extended variants
information (count: 1717 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:1717 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545689612	chr1:113731660-113731661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550435510	chr1:113731674-113731675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374925614	chr1:113731684-113731685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs74111221	chr1:113731691-113731692	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs560586963	chr1:113731692-113731693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567487226	chr1:113731711-113731712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568799223	chr1:113731776-113731777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530346975	chr1:113731829-113731830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547225251	chr1:113731841-113731842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566761240	chr1:113731858-113731859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148072587	chr1:113731892-113731893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs57079286	chr1:113731912-113731913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569400701	chr1:113732016-113732017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs58957404	chr1:113732040-113732041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554827553	chr1:113732071-113732072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574640414	chr1:113732111-113732112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142643065	chr1:113732215-113732216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554078424	chr1:113732216-113732217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192165573	chr1:113732233-113732234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182885726	chr1:113732234-113732235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528893757	chr1:113732261-113732262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562129294	chr1:113732303-113732304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575749120	chr1:113732315-113732316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547457683	chr1:113732338-113732339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs36114149	chr1:113732366-113732367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74481150	chr1:113732423-113732424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561147635	chr1:113732427-113732428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187943365	chr1:113732484-113732485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546869451	chr1:113732526-113732527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560885753	chr1:113732527-113732528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532670736	chr1:113732597-113732598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552635921	chr1:113732640-113732641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569239917	chr1:113732658-113732659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192417376	chr1:113732701-113732702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565732998	chr1:113732713-113732714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184582543	chr1:113732801-113732802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568560624	chr1:113732810-113732811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35061607	chr1:113732957-113732958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534043313	chr1:113732958-113732959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77876333	chr1:113732975-113732976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577103343	chr1:113733010-113733011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10494153	chr1:113733041-113733042	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs555762688	chr1:113733095-113733096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1324893	chr1:113733145-113733146	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs146071422	chr1:113733147-113733148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369338225	chr1:113733161-113733162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540847306	chr1:113733227-113733228	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs562506982	chr1:113733268-113733269	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs560502668	chr1:113733273-113733274	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs116661165	chr1:113733285-113733286	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

Disease	PMID	Source
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
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Asthma	20841430	CNVD
Aetanephric adenomas	20802469	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	21956041	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	16573809	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Breast cancer	17899364	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Melanoma	19671679	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Pancreatic cancer	17952125	CNVD
Autism	21865298	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:437 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113731400-113731800	Enhancers	Fetal Kidney	kidney
2	chr1:113731800-113733800	Weak transcription	Fetal Kidney	kidney
3	chr1:113733200-113733400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:113733200-113734000	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr1:113733200-113734600	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr1:113733400-113745200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:113733600-113734000	Weak transcription	Lung	lung
8	chr1:113733800-113734200	Enhancers	Fetal Kidney	kidney
9	chr1:113733800-113734400	Active TSS	Brain Anterior Caudate	brain
10	chr1:113733800-113734400	Active TSS	Duodenum Mucosa	Duodenum
11	chr1:113733800-113734800	Enhancers	Hela-S3	cervix
12	chr1:113734000-113734200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:113734000-113734200	Active TSS	Colonic Mucosa	Colon
14	chr1:113734000-113734200	Enhancers	A549	lung
15	chr1:113734000-113734400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
16	chr1:113734000-113734600	ZNF genes & repeats	Lung	lung
17	chr1:113734000-113735000	Enhancers	Esophagus	oesophagus
18	chr1:113734000-113735200	Flanking Active TSS	GM12878-XiMat	blood
19	chr1:113734200-113734400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:113734200-113734400	Flanking Active TSS	Colonic Mucosa	Colon
21	chr1:113734200-113734800	Active TSS	A549	lung
22	chr1:113734200-113734800	Enhancers	HMEC	breast
23	chr1:113734200-113735000	Enhancers	Left Ventricle	heart
24	chr1:113734200-113735200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:113734200-113735200	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr1:113734200-113735200	Enhancers	Stomach Mucosa	stomach
27	chr1:113734200-113735800	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr1:113734200-113740800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:113734400-113735000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:113734400-113735000	Enhancers	K562	blood
31	chr1:113734400-113735200	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr1:113734400-113735200	Enhancers	Colonic Mucosa	Colon
33	chr1:113734400-113735200	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr1:113734400-113735200	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr1:113734600-113734800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr1:113734600-113735000	Enhancers	Primary B cells from peripheral blood	blood
37	chr1:113734600-113735000	Enhancers	Primary hematopoietic stem cells	blood
38	chr1:113734800-113735000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
39	chr1:113734800-113735200	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr1:113734800-113741400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr1:113735000-113738000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:113735000-113738600	Weak transcription	Esophagus	oesophagus
43	chr1:113735000-113742400	Weak transcription	K562	blood
44	chr1:113735200-113735800	Enhancers	GM12878-XiMat	blood
45	chr1:113735200-113738000	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr1:113735200-113738600	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr1:113735800-113736000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr1:113736000-113736400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
49	chr1:113736200-113741000	Weak transcription	Lung	lung
50	chr1:113736400-113737400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links