Variant report

Variant	nsv1012541
Chromosome Location	chr3:120482402-120580319
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:873)
CpG islands
(count:366)
Chromatin interactive
region (count:37)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:5)

(count:873 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:120511001-120511149	K562	blood:	n/a	n/a
2	ARID3A	chr3:120513956-120514262	K562	blood:	n/a	n/a
3	ARID3A	chr3:120484938-120485232	HepG2	liver:	n/a	n/a
4	ARID3A	chr3:120514892-120515237	HepG2	liver:	n/a	n/a
5	ARID3A	chr3:120513809-120514265	HepG2	liver:	n/a	n/a
6	ATF1	chr3:120510846-120511196	K562	blood:	n/a	n/a
7	ATF1	chr3:120577705-120577893	K562	blood:	n/a	n/a
8	ATF2	chr3:120513758-120514160	GM12878	blood:	n/a	n/a
9	ATF2	chr3:120492671-120493231	GM12878	blood:	n/a	n/a
10	ATF2	chr3:120499708-120500415	GM12878	blood:	n/a	n/a
11	ATF2	chr3:120499787-120500315	GM12878	blood:	n/a	n/a
12	ATF2	chr3:120492725-120493152	GM12878	blood:	n/a	n/a
13	ATF2	chr3:120504686-120505174	GM12878	blood:	n/a	n/a
14	BACH1	chr3:120557921-120558355	K562	blood:	n/a	n/a
15	BACH1	chr3:120557572-120558549	H1-hESC	embryonic stem cell:	n/a	n/a
16	BATF	chr3:120504837-120505076	GM12878	blood:	n/a	n/a
17	BATF	chr3:120499839-120500339	GM12878	blood:	n/a	chr3:120500052-120500063
18	BATF	chr3:120499836-120500255	GM12878	blood:	n/a	chr3:120500052-120500063
19	BATF	chr3:120492829-120493166	GM12878	blood:	n/a	chr3:120492935-120492945
20	BATF	chr3:120504785-120505108	GM12878	blood:	n/a	n/a
21	BATF	chr3:120492781-120493086	GM12878	blood:	n/a	chr3:120492935-120492945
22	BCL11A	chr3:120499903-120500266	GM12878	blood:	n/a	n/a
23	BCL11A	chr3:120499848-120500309	GM12878	blood:	n/a	n/a
24	BCL11A	chr3:120492789-120493061	GM12878	blood:	n/a	chr3:120492934-120492943
25	BCL3	chr3:120499846-120500245	GM12878	blood:	n/a	n/a
26	BCLAF1	chr3:120513890-120514266	GM12878	blood:	n/a	n/a
27	BCLAF1	chr3:120499806-120500314	GM12878	blood:	n/a	n/a
28	BCLAF1	chr3:120499884-120500328	GM12878	blood:	n/a	n/a
29	BHLHE40	chr3:120499800-120500268	GM12878	blood:	n/a	n/a
30	BHLHE40	chr3:120570687-120570722	K562	blood:	n/a	n/a
31	BHLHE40	chr3:120504944-120504979	GM12878	blood:	n/a	n/a
32	BRCA1	chr3:120543640-120543840	H1-hESC	embryonic stem cell:	n/a	n/a
33	BRCA1	chr3:120509972-120510027	H1-hESC	embryonic stem cell:	n/a	n/a
34	BRCA1	chr3:120565005-120565162	H1-hESC	embryonic stem cell:	n/a	n/a
35	BRCA1	chr3:120574669-120575227	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr3:120528896-120528955	A549	lung:	n/a	n/a
37	CEBPB	chr3:120539625-120539953	HepG2	liver:	n/a	n/a
38	CEBPB	chr3:120533089-120533412	HepG2	liver:	n/a	chr3:120533247-120533258
39	CEBPB	chr3:120499806-120500356	GM12878	blood:	n/a	n/a
40	CEBPB	chr3:120513874-120514209	HepG2	liver:	n/a	n/a
41	CEBPB	chr3:120533829-120534007	HepG2	liver:	n/a	n/a
42	CEBPB	chr3:120540589-120540610	Hela-S3	cervix:	n/a	n/a
43	CEBPB	chr3:120533079-120533432	K562	blood:	n/a	chr3:120533247-120533258
44	CEBPB	chr3:120577317-120577897	Hela-S3	cervix:	n/a	n/a
45	CEBPB	chr3:120525746-120525946	IMR90	lung:	n/a	n/a
46	CEBPB	chr3:120539707-120539836	HepG2	liver:	n/a	n/a
47	CEBPB	chr3:120513838-120514222	IMR90	lung:	n/a	n/a
48	CEBPB	chr3:120510126-120510255	H1-hESC	embryonic stem cell:	n/a	n/a
49	CEBPB	chr3:120574952-120575329	Hela-S3	cervix:	n/a	n/a
50	CEBPB	chr3:120513763-120514287	A549	lung:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:120511839-120511889	HRCEpiC	kidney:	n/a
2	chr3:120499981-120500031	PrEC	prostate:	n/a
3	chr3:120555756-120555806	NT2-D1	testis:	n/a
4	chr3:120555756-120555806	GM12878	blood:	n/a
5	chr3:120511839-120511889	HPAEpiC	pulmonary alveolar:	n/a
6	chr3:120501329-120501379	HIPEpiC	eye:	n/a
7	chr3:120499981-120500031	HL-60	blood:	n/a
8	chr3:120555756-120555806	HIPEpiC	eye:	n/a
9	chr3:120558040-120558090	AG10803	skin:	n/a
10	chr3:120499981-120500031	PFSK-1	brain:	n/a
11	chr3:120490086-120490136	Hepatocyte	liver:	n/a
12	chr3:120555756-120555806	SAEC	small airway:	n/a
13	chr3:120499981-120500031	IMR90	lung:	fetal
14	chr3:120558040-120558090	PFSK-1	brain:	n/a
15	chr3:120499981-120500031	NHDF-neo	bronchial:	n/a
16	chr3:120490086-120490136	HAEpiC	amniotic membrane:	n/a
17	chr3:120555756-120555806	HCT-116	colon:	n/a
18	chr3:120555756-120555806	SK-N-SH	brain:	n/a
19	chr3:120499981-120500031	NHBE	bronchial:	n/a
20	chr3:120511839-120511889	NB4	blood:	n/a
21	chr3:120499981-120500031	HEK293	kidney:	embryo
22	chr3:120511839-120511889	PANC-1	pancreas:	n/a
23	chr3:120499981-120500031	GM06990	blood:	n/a
24	chr3:120555756-120555806	Hela-S3	cervix:	n/a
25	chr3:120490086-120490136	H1-hESC	embryonic stem cell:	embryo
26	chr3:120499981-120500031	ProgFib	skin:	n/a
27	chr3:120558040-120558090	BJ	skin:	n/a
28	chr3:120501329-120501379	HEK293	kidney:	embryo
29	chr3:120558040-120558090	HMEC	breast:	n/a
30	chr3:120499981-120500031	HAEpiC	amniotic membrane:	n/a
31	chr3:120501329-120501379	HL-60	blood:	n/a
32	chr3:120501329-120501379	RPTEC	kidney:	n/a
33	chr3:120490086-120490136	PANC-1	pancreas:	n/a
34	chr3:120555756-120555806	AG09319	gingival:	n/a
35	chr3:120555756-120555806	GM12892	blood:	n/a
36	chr3:120511839-120511889	SK-N-SH_RA	brain:	n/a
37	chr3:120501329-120501379	PrEC	prostate:	n/a
38	chr3:120511839-120511889	HMEC	breast:	n/a
39	chr3:120501329-120501379	Hepatocyte	liver:	n/a
40	chr3:120555756-120555806	HCF	heart:	n/a
41	chr3:120555756-120555806	AG04449	skin:	fetal
42	chr3:120501329-120501379	PFSK-1	brain:	n/a
43	chr3:120558040-120558090	Jurkat	blood:	n/a
44	chr3:120499981-120500031	SK-N-MC	brain:	n/a
45	chr3:120511839-120511889	ovcar-3	ovarian:	n/a
46	chr3:120558040-120558090	H1-hESC	embryonic stem cell:	embryo
47	chr3:120555756-120555806	HUVEC	blood vessel:	n/a
48	chr3:120490086-120490136	SK-N-SH_RA	brain:	n/a
49	chr3:120555756-120555806	HCPEpiC	choroid plexus:	n/a
50	chr3:120558040-120558090	NH-A	brain:	n/a

(count:37 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:120484993..120486809-chr3:120488357..120490083,2	K562	blood:
2	chr3:120495942..120499120-chr3:120500885..120503419,3	MCF-7	breast:
3	chr3:120487335..120490044-chr3:120518246..120520053,2	K562	blood:
4	chr3:120491622..120494305-chr3:120496483..120498559,2	K562	blood:
5	chr3:120500523..120502536-chr3:120506271..120508134,2	K562	blood:
6	chr3:120341598..120342496-chr3:120513592..120514539,5	MCF-7	breast:
7	chr3:120500523..120502536-chr3:120506271..120508134,2	K562	blood:
8	chr3:120460113..120461922-chr3:120512170..120514809,2	MCF-7	breast:
9	chr3:120460604..120462177-chr3:120520027..120522564,2	MCF-7	breast:
10	chr3:120491622..120494305-chr3:120496483..120498559,2	K562	blood:
11	chr3:120542682..120544561-chr3:120555913..120557968,2	MCF-7	breast:
12	chr3:120578478..120580456-chr3:120587520..120589951,2	K562	blood:
13	chr3:120342144..120344111-chr3:120512256..120514740,2	K562	blood:
14	chr3:120517564..120519300-chr3:120520077..120521672,2	K562	blood:
15	chr3:120459987..120462376-chr3:120486365..120489094,2	MCF-7	breast:
16	chr3:120313637..120315833-chr3:120512529..120515092,2	MCF-7	breast:
17	chr3:120279797..120280809-chr3:120513558..120514502,6	MCF-7	breast:
18	chr3:120534128..120535002-chr6:48367967..48368684,2	MCF-7	breast:
19	chr3:120279971..120280796-chr3:120513577..120514769,5	K562	blood:
20	chr3:120577947..120579807-chr3:120583739..120586001,2	K562	blood:
21	chr3:120525378..120528266-chr3:120530394..120532129,2	K562	blood:
22	chr3:120286252..120286774-chr3:120513818..120514517,2	MCF-7	breast:
23	chr3:120542682..120544561-chr3:120555913..120557968,2	MCF-7	breast:
24	chr3:120506049..120507948-chr3:120510885..120512477,2	MCF-7	breast:
25	chr3:120279832..120280786-chr3:120513592..120514490,6	MCF-7	breast:
26	chr3:120495942..120499120-chr3:120500885..120503419,3	MCF-7	breast:
27	chr3:120517564..120519300-chr3:120520077..120521672,2	K562	blood:
28	chr3:120525378..120528266-chr3:120530394..120532129,2	K562	blood:
29	chr3:120484993..120486809-chr3:120488357..120490083,2	K562	blood:
30	chr3:120474492..120477463-chr3:120486835..120489178,2	K562	blood:
31	chr3:120487335..120490044-chr3:120518246..120520053,2	K562	blood:
32	chr3:120313513..120316434-chr3:120515980..120517964,2	K562	blood:
33	chr3:120490765..120494305-chr3:120495076..120499796,4	K562	blood:
34	chr3:120380140..120380795-chr3:120513787..120514545,2	MCF-7	breast:
35	chr3:120460945..120463324-chr3:120481633..120483681,2	K562	blood:
36	chr3:120506049..120507948-chr3:120510885..120512477,2	MCF-7	breast:
37	chr3:120490765..120494305-chr3:120495076..120499796,4	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RABL3-1	chr3:120531328-120531535	NONHSAT091462
2	lnc-RABL3-1	chr3:120552287-120552941	XLOC_003226
3	lnc-RABL3-1	chr3:120542173-120542217	NONHSAT091462
4	lnc-RABL3-1	chr3:120530352-120531535	XLOC_003226
5	lnc-RABL3-1	chr3:120555116-120555204	XLOC_003226
6	lnc-RABL3-1	chr3:120555116-120555220	XLOC_003226
7	lnc-RABL3-1	chr3:120552287-120552941	ENSG00000243593
8	lnc-RABL3-1	chr3:120555116-120555207	ENSG00000243593

No data

(count:5 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	GTF2E1	hsa-miR-221-3p	chr3:120501687-120501694
2	GTF2E1	hsa-miR-221-3p	chr3:120501673-120501694
3	GTF2E1	hsa-let-7f-5p	chr3:120500775-120500797
4	GTF2E1	hsa-miR-361-5p	chr3:120501667-120501688
5	GTF2E1	hsa-miR-361-5p	chr3:120501681-120501687

Variant related genes	Relation type
NAP1L1P3	TF binding region
ENSG00000243593	TF binding region
NAP1L1P3	CpG island
ENSG00000243593	CpG island
ENSG00000144840	chromatin interactions
ENSG00000153767	chromatin interactions
ENSG00000065518	chromatin interactions

Extended variants
information (count: 3006 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:3006 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561697403	chr3:120482416-120482417	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs527264304	chr3:120482429-120482430	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs547559518	chr3:120482489-120482490	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs564026115	chr3:120482513-120482514	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs55831173	chr3:120482523-120482524	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs56406902	chr3:120482566-120482567	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs111571318	chr3:120482612-120482613	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs569804137	chr3:120482633-120482634	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs183641020	chr3:120482634-120482635	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs535387348	chr3:120482653-120482654	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs112444517	chr3:120482695-120482696	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs548849764	chr3:120482887-120482888	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs565776549	chr3:120482890-120482891	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs139924236	chr3:120482900-120482901	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs377108082	chr3:120482936-120482937	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs186721949	chr3:120482976-120482977	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs191139560	chr3:120482983-120482984	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs113628522	chr3:120482991-120482992	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs574157522	chr3:120483019-120483020	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs543379538	chr3:120483045-120483046	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs560080692	chr3:120483068-120483069	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs371436871	chr3:120483073-120483074	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs76036441	chr3:120483086-120483087	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs143793105	chr3:120483099-120483100	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs562438282	chr3:120483121-120483122	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs530989538	chr3:120483127-120483128	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs544837656	chr3:120483167-120483168	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs374731922	chr3:120483176-120483177	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs182657306	chr3:120483223-120483224	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs41365345	chr3:120483237-120483238	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs549824429	chr3:120483243-120483244	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs73855271	chr3:120483267-120483268	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs373379345	chr3:120483271-120483272	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs79683803	chr3:120483316-120483317	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs551855915	chr3:120483347-120483348	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs565641178	chr3:120483351-120483352	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs534565817	chr3:120483458-120483459	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs551500864	chr3:120483479-120483480	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs78996631	chr3:120483561-120483562	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs537178595	chr3:120483568-120483569	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs368480796	chr3:120483635-120483636	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs565306962	chr3:120483733-120483734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs140597134	chr3:120483736-120483737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567806381	chr3:120483790-120483791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs73183720	chr3:120483825-120483826	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs111594276	chr3:120483838-120483839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs556754038	chr3:120483850-120483851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571241413	chr3:120483852-120483853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568373834	chr3:120483876-120483877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs6784793	chr3:120483972-120483973	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Glioblastoma multiforme	22286061	CNVD
Neurodevelopmental disorder	22521361	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	22522925	CNVD
Colorectal cancer	21645411	CNVD
Autism	22241247	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1162 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120462600-120495200	Weak transcription	Aorta	Aorta
2	chr3:120462800-120483000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:120462800-120485600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr3:120462800-120499800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:120462800-120500000	Weak transcription	Gastric	stomach
6	chr3:120462800-120503000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr3:120463000-120484800	Weak transcription	K562	blood
8	chr3:120463000-120485600	Weak transcription	Pancreas	Pancrea
9	chr3:120463000-120485600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr3:120463000-120485600	Weak transcription	HMEC	breast
11	chr3:120463000-120493600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr3:120463000-120496000	Weak transcription	Fetal Lung	lung
13	chr3:120463000-120499800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr3:120463000-120502000	Weak transcription	Colonic Mucosa	Colon
15	chr3:120463000-120504200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr3:120463000-120504800	Weak transcription	Fetal Brain Male	brain
17	chr3:120463200-120484600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr3:120463200-120485400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr3:120463200-120492000	Weak transcription	Thymus	Thymus
20	chr3:120463200-120494000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr3:120463200-120495200	Weak transcription	Fetal Intestine Small	intestine
22	chr3:120463400-120482800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr3:120463400-120485000	Weak transcription	Brain Angular Gyrus	brain
24	chr3:120463400-120497000	Weak transcription	Fetal Kidney	kidney
25	chr3:120463400-120503000	Weak transcription	Small Intestine	intestine
26	chr3:120464000-120489600	Weak transcription	NHDF-Ad	bronchial
27	chr3:120470200-120482800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr3:120470200-120482800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr3:120470200-120483000	Weak transcription	Left Ventricle	heart
30	chr3:120470200-120485400	Weak transcription	Fetal Stomach	stomach
31	chr3:120470200-120499600	Weak transcription	HSMMtube	muscle
32	chr3:120470200-120499800	Weak transcription	Lung	lung
33	chr3:120470400-120482800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr3:120470400-120484400	Weak transcription	HepG2	liver
35	chr3:120470400-120484800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr3:120470400-120489600	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr3:120470600-120482800	Weak transcription	Adipose Nuclei	Adipose
38	chr3:120470600-120490200	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr3:120470800-120490400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr3:120471400-120485600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr3:120471400-120489600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr3:120471600-120484600	Weak transcription	Liver	Liver
43	chr3:120471600-120491200	Weak transcription	Placenta	Placenta
44	chr3:120471600-120491600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr3:120471800-120489800	Weak transcription	Fetal Intestine Large	intestine
46	chr3:120472000-120489400	Weak transcription	Primary T cells from cord blood	blood
47	chr3:120472400-120495200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr3:120472600-120485200	Weak transcription	NHEK	skin
49	chr3:120472600-120493200	Weak transcription	Duodenum Mucosa	Duodenum
50	chr3:120473000-120489600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links