Variant report

Variant	nsv512276
Chromosome Location	chr12:57334563-57379261
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:421)
CpG islands
(count:428)
Chromatin interactive
region (count:46)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:421 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:57335445-57335829	HepG2	liver:	n/a	n/a
2	ATF1	chr12:57362833-57363005	K562	blood:	n/a	n/a
3	BACH1	chr12:57335314-57335674	K562	blood:	n/a	n/a
4	BATF	chr12:57335428-57335611	GM12878	blood:	n/a	chr12:57335532-57335543
5	BATF	chr12:57335348-57335706	GM12878	blood:	n/a	chr12:57335532-57335543
6	CBX3	chr12:57352149-57352446	K562	blood:	n/a	n/a
7	CBX3	chr12:57337124-57337565	K562	blood:	n/a	n/a
8	CBX3	chr12:57337230-57337416	K562	blood:	n/a	n/a
9	CBX3	chr12:57359798-57360321	K562	blood:	n/a	n/a
10	CEBPB	chr12:57349413-57349754	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr12:57349426-57349758	IMR90	lung:	n/a	n/a
12	CEBPB	chr12:57349414-57349774	HepG2	liver:	n/a	n/a
13	CEBPB	chr12:57349273-57349896	A549	lung:	n/a	chr12:57349277-57349289
14	CEBPB	chr12:57335437-57335773	HepG2	liver:	n/a	n/a
15	CEBPB	chr12:57372221-57372421	HepG2	liver:	n/a	n/a
16	CEBPB	chr12:57344105-57344290	K562	blood:	n/a	n/a
17	CEBPB	chr12:57344131-57344381	MCF-7	breast:	n/a	n/a
18	CEBPB	chr12:57349434-57349654	H1-hESC	embryonic stem cell:	n/a	n/a
19	CEBPB	chr12:57335495-57335737	HepG2	liver:	n/a	n/a
20	CEBPB	chr12:57349459-57349683	HepG2	liver:	n/a	n/a
21	CEBPB	chr12:57344063-57344363	HepG2	liver:	n/a	n/a
22	CEBPB	chr12:57349377-57349777	A549	lung:	n/a	n/a
23	CEBPB	chr12:57349395-57349785	A549	lung:	n/a	n/a
24	CEBPB	chr12:57349354-57349829	MCF-7	breast:	n/a	n/a
25	CEBPB	chr12:57341747-57341956	HepG2	liver:	n/a	n/a
26	CEBPB	chr12:57349466-57349757	K562	blood:	n/a	n/a
27	CEBPB	chr12:57372206-57372347	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr12:57349345-57349760	HepG2	liver:	n/a	n/a
29	CEBPB	chr12:57344148-57344348	A549	lung:	n/a	n/a
30	CEBPD	chr12:57335484-57335715	HepG2	liver:	n/a	n/a
31	CEBPD	chr12:57335487-57335862	HepG2	liver:	n/a	n/a
32	CEBPZ	chr12:57335613-57335694	HepG2	liver:	n/a	n/a
33	CEBPZ	chr12:57349503-57349558	HepG2	liver:	n/a	n/a
34	CHD2	chr12:57335484-57335763	HepG2	liver:	n/a	n/a
35	CREB1	chr12:57335061-57335390	A549	lung:	n/a	n/a
36	CTCF	chr12:57378060-57378210	GM12872	blood:	n/a	n/a
37	CTCF	chr12:57335160-57335310	NHEK	skin:	n/a	chr12:57335245-57335263
38	CTCF	chr12:57341520-57341670	GM12873	blood:	n/a	n/a
39	CTCF	chr12:57351220-57351370	SAEC	small airway:	n/a	n/a
40	CTCF	chr12:57335220-57335370	HEEpiC	esophagus:	n/a	chr12:57335245-57335263
41	CTCF	chr12:57341500-57341650	GM12868	blood:	n/a	n/a
42	CTCF	chr12:57341500-57341650	RPTEC	kidney:	n/a	n/a
43	CTCF	chr12:57351303-57351359	GM13976	blood:	n/a	n/a
44	CTCF	chr12:57341520-57341670	BE2_C	brain:	n/a	n/a
45	CTCF	chr12:57341500-57341650	HCM	heart:	n/a	n/a
46	CTCF	chr12:57374033-57374138	K562	blood:	n/a	n/a
47	CTCF	chr12:57335160-57335310	MCF-7	breast:	n/a	chr12:57335245-57335263
48	CTCF	chr12:57341532-57341645	GM13977	blood:	n/a	n/a
49	CTCF	chr12:57341468-57341755	GM12878	blood:	n/a	n/a
50	CTCF	chr12:57341520-57341670	Hela-S3	cervix:	n/a	n/a

(count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:57351191-57351241	BJ	skin:	n/a
2	chr12:57351191-57351241	BJ	skin:	n/a
3	chr12:57352514-57352564	HUVEC	blood vessel:	n/a
4	chr12:57345934-57345984	Hepatocyte	liver:	n/a
5	chr12:57351856-57351906	SAEC	small airway:	n/a
6	chr12:57352514-57352564	H1-hESC	embryonic stem cell:	embryo
7	chr12:57351732-57351782	AoSMC	blood vessel:	n/a
8	chr12:57351732-57351782	GM12878	blood:	n/a
9	chr12:57345407-57345457	NHBE	bronchial:	n/a
10	chr12:57351732-57351782	MCF10A-Er-Src	breast:	n/a
11	chr12:57351191-57351241	ovcar-3	ovarian:	n/a
12	chr12:57345934-57345984	ovcar-3	ovarian:	n/a
13	chr12:57352514-57352564	A549	lung:	n/a
14	chr12:57335615-57335665	SAEC	small airway:	n/a
15	chr12:57345934-57345984	HEK293	kidney:	embryo
16	chr12:57345407-57345457	ECC-1	luminal epithelium:	n/a
17	chr12:57345934-57345984	HepG2	liver:	n/a
18	chr12:57345407-57345457	CMK	blood:	n/a
19	chr12:57352514-57352564	Caco-2	colon:	n/a
20	chr12:57351856-57351906	BJ	skin:	n/a
21	chr12:57345407-57345457	NHDF-neo	bronchial:	n/a
22	chr12:57351191-57351241	HL-60	blood:	n/a
23	chr12:57345934-57345984	HPAEpiC	pulmonary alveolar:	n/a
24	chr12:57345407-57345457	ProgFib	skin:	n/a
25	chr12:57335615-57335665	NH-A	brain:	n/a
26	chr12:57345934-57345984	SK-N-MC	brain:	n/a
27	chr12:57352514-57352564	HCPEpiC	choroid plexus:	n/a
28	chr12:57351732-57351782	GM19239	blood:	n/a
29	chr12:57351856-57351906	AG09319	gingival:	n/a
30	chr12:57335615-57335665	HRE	kidney:	n/a
31	chr12:57352514-57352564	GM06990	blood:	n/a
32	chr12:57352514-57352564	HPAEpiC	pulmonary alveolar:	n/a
33	chr12:57351732-57351782	LNCaP	prostate:	n/a
34	chr12:57345934-57345984	K562	blood:	n/a
35	chr12:57351732-57351782	IMR90	lung:	fetal
36	chr12:57335615-57335665	HCT-116	colon:	n/a
37	chr12:57335615-57335665	MCF10A-Er-Src	breast:	n/a
38	chr12:57352514-57352564	MCF10A-Er-Src	breast:	n/a
39	chr12:57352514-57352564	AG04450	lung:	fetal
40	chr12:57351856-57351906	GM06990	blood:	n/a
41	chr12:57351856-57351906	HMEC	breast:	n/a
42	chr12:57351732-57351782	NB4	blood:	n/a
43	chr12:57345407-57345457	HRE	kidney:	n/a
44	chr12:57351191-57351241	HCM	heart:	n/a
45	chr12:57352514-57352564	U87	brain:	n/a
46	chr12:57335615-57335665	SK-N-MC	brain:	n/a
47	chr12:57351856-57351906	K562	blood:	n/a
48	chr12:57345407-57345457	SK-N-MC	brain:	n/a
49	chr12:57345934-57345984	HRPEpiC	eye:	n/a
50	chr12:57335615-57335665	GM06990	blood:	n/a

(count:46 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57081337..57084055-chr12:57347595..57351157,3	MCF-7	breast:
2	chr12:57340605..57343794-chr12:57388280..57390645,3	MCF-7	breast:
3	chr12:57327918..57330814-chr12:57348513..57351502,2	MCF-7	breast:
4	chr12:57327540..57330418-chr12:57347371..57350395,3	K562	blood:
5	chr12:57378196..57379774-chr12:57392369..57394699,2	MCF-7	breast:
6	chr12:57351472..57353366-chr12:57371615..57374205,2	MCF-7	breast:
7	chr12:57341567..57342147-chr12:57381088..57381948,3	MCF-7	breast:
8	chr12:57342671..57345733-chr12:57481207..57484376,3	MCF-7	breast:
9	chr12:57349736..57351385-chr12:57380003..57382609,2	MCF-7	breast:
10	chr12:57321673..57323369-chr12:57347515..57349644,2	MCF-7	breast:
11	chr12:57341090..57342031-chr12:57380872..57381968,6	MCF-7	breast:
12	chr12:57156608..57159061-chr12:57379164..57381627,2	MCF-7	breast:
13	chr12:57341397..57342171-chr12:57399982..57400550,2	MCF-7	breast:
14	chr12:57370332..57372734-chr12:57384660..57386537,2	K562	blood:
15	chr12:57347121..57349496-chr12:57383085..57384758,2	MCF-7	breast:
16	chr12:57319872..57321581-chr12:57347777..57350711,2	MCF-7	breast:
17	chr12:57345020..57348622-chr12:57399414..57401826,4	MCF-7	breast:
18	chr12:57338428..57340285-chr12:57349754..57351660,2	MCF-7	breast:
19	chr12:57144393..57147298-chr12:57377477..57379944,2	MCF-7	breast:
20	chr12:57319841..57322040-chr12:57335776..57337907,3	MCF-7	breast:
21	chr12:57328840..57330584-chr12:57335451..57337263,2	MCF-7	breast:
22	chr12:57347827..57349628-chr12:57379616..57381539,3	MCF-7	breast:
23	chr12:57333897..57335886-chr12:57347612..57349669,2	MCF-7	breast:
24	chr12:57211985..57213673-chr12:57349961..57351583,2	MCF-7	breast:
25	chr12:57233379..57233935-chr12:57351193..57351985,2	MCF-7	breast:
26	chr12:57023280..57025743-chr12:57378551..57381481,2	MCF-7	breast:
27	chr12:57347630..57349531-chr12:57349740..57351878,2	MCF-7	breast:
28	chr12:57351085..57351674-chr12:57381073..57381575,2	MCF-7	breast:
29	chr12:57347864..57350577-chr12:57381566..57383920,2	MCF-7	breast:
30	chr12:57347630..57349531-chr12:57349740..57351878,2	MCF-7	breast:
31	chr12:57341072..57342721-chr12:57384674..57386261,2	K562	blood:
32	chr12:57350025..57351752-chr12:57359432..57361772,2	MCF-7	breast:
33	chr12:57326664..57330911-chr12:57334392..57337503,4	K562	blood:
34	chr12:57350025..57351752-chr12:57359432..57361772,2	MCF-7	breast:
35	chr12:57349108..57350665-chr12:57479276..57481586,2	MCF-7	breast:
36	chr12:57330845..57332526-chr12:57336068..57338551,2	MCF-7	breast:
37	chr12:57333897..57335886-chr12:57347612..57349669,2	MCF-7	breast:
38	chr12:57327126..57329472-chr12:57342749..57346552,3	MCF-7	breast:
39	chr12:57326673..57329540-chr12:57347284..57349028,2	MCF-7	breast:
40	chr12:57324104..57327319-chr12:57348172..57351129,3	MCF-7	breast:
41	chr12:57374244..57376394-chr12:57378626..57381125,2	MCF-7	breast:
42	chr12:57374244..57376394-chr12:57378626..57381125,2	MCF-7	breast:
43	chr12:57325236..57327206-chr12:57341575..57344080,3	MCF-7	breast:
44	chr12:57338428..57340285-chr12:57349754..57351660,2	MCF-7	breast:
45	chr12:57326942..57329124-chr12:57333812..57335374,2	MCF-7	breast:
46	chr12:57349241..57352181-chr12:57373731..57375876,2	MCF-7	breast:

No data

Variant related genes	Relation type
RDH16	TF binding region
RDH16	CpG island
ENSG00000258442	chromatin interactions
ENSG00000076108	chromatin interactions
ENSG00000139547	chromatin interactions
ENSG00000198056	chromatin interactions
ENSG00000166860	chromatin interactions
ENSG00000166881	chromatin interactions
ENSG00000110958	chromatin interactions
ENSG00000166886	chromatin interactions
ENSG00000025423	chromatin interactions
ENSG00000170426	chromatin interactions

Extended variants
information (count: 1574 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1574 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2257952	chr12:57334835-57334836	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs557167147	chr12:57334901-57334902	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs201672301	chr12:57334917-57334918	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs539339522	chr12:57334921-57334922	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs370563599	chr12:57335028-57335029	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs201461879	chr12:57335029-57335030	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs374034120	chr12:57335030-57335031	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs367837702	chr12:57335036-57335037	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs553063992	chr12:57335037-57335038	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs200308686	chr12:57335064-57335065	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs201748944	chr12:57335068-57335069	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs563523846	chr12:57335076-57335077	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs531149456	chr12:57335105-57335106	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs72519973	chr12:57335113-57335114	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs76649068	chr12:57335120-57335121	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs374546050	chr12:57335124-57335125	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs79032098	chr12:57335126-57335127	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs79249181	chr12:57335136-57335137	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs77003209	chr12:57335139-57335140	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs76579434	chr12:57335141-57335142	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs71459397	chr12:57335150-57335151	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs71459398	chr12:57335154-57335155	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs66881926	chr12:57335163-57335164	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs543686112	chr12:57335174-57335175	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs564755047	chr12:57335176-57335177	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs528085293	chr12:57335177-57335178	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs546542818	chr12:57335178-57335179	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs568184660	chr12:57335180-57335181	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs397834755	chr12:57335189-57335190	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs2860699	chr12:57335192-57335193	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs528976967	chr12:57335200-57335201	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs397834756	chr12:57335234-57335235	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs372713708	chr12:57335243-57335244	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs397834778	chr12:57335250-57335251	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs546068606	chr12:57335286-57335287	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs569067910	chr12:57335298-57335299	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs563879990	chr12:57335305-57335306	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs182517953	chr12:57335337-57335338	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs375616029	chr12:57335367-57335368	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs151222585	chr12:57335397-57335398	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs113707341	chr12:57335432-57335433	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs71446590	chr12:57335435-57335436	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs370836160	chr12:57335436-57335437	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs534730139	chr12:57335443-57335444	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs117136342	chr12:57335540-57335541	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs55707312	chr12:57335541-57335542	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs115562488	chr12:57335608-57335609	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs557179275	chr12:57335631-57335632	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs575752036	chr12:57335639-57335640	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs546338824	chr12:57335668-57335669	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Bladder cancer	21909424	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Autism	20531469	CNVD
Rhabdomyosarcoma	16790082	CNVD
Renal cell carcinoma	18765545	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21138945	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glycogen storage disease	18421352	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:241 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57325800-57335200	Weak transcription	Fetal Intestine Large	intestine
2	chr12:57326400-57335200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:57327000-57335200	Weak transcription	Spleen	Spleen
4	chr12:57328200-57335000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:57329400-57335200	Weak transcription	A549	lung
6	chr12:57329800-57335000	Weak transcription	NHEK	skin
7	chr12:57330000-57334600	Weak transcription	HMEC	breast
8	chr12:57330000-57335200	Weak transcription	K562	blood
9	chr12:57330200-57335200	Weak transcription	Esophagus	oesophagus
10	chr12:57333000-57335000	Weak transcription	Liver	Liver
11	chr12:57333800-57335000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:57333800-57335000	Weak transcription	HepG2	liver
13	chr12:57334600-57336400	Enhancers	HMEC	breast
14	chr12:57335000-57335200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:57335000-57335200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:57335000-57335200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr12:57335000-57335200	Enhancers	HepG2	liver
18	chr12:57335000-57335200	Enhancers	NHEK	skin
19	chr12:57335000-57335600	Enhancers	GM12878-XiMat	blood
20	chr12:57335000-57336200	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr12:57335000-57336400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr12:57335000-57336400	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr12:57335000-57336400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:57335000-57336400	Enhancers	HSMM	muscle
25	chr12:57335000-57337200	Enhancers	Liver	Liver
26	chr12:57335200-57335400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:57335200-57335400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr12:57335200-57335400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:57335200-57335400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:57335200-57335400	Flanking Active TSS	Stomach Smooth Muscle	stomach
31	chr12:57335200-57335600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr12:57335200-57335600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr12:57335200-57335600	Enhancers	Duodenum Mucosa	Duodenum
34	chr12:57335200-57335800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr12:57335200-57335800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:57335200-57335800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr12:57335200-57335800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr12:57335200-57335800	Enhancers	Right Atrium	heart
39	chr12:57335200-57335800	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr12:57335200-57335800	Flanking Active TSS	Hela-S3	cervix
41	chr12:57335200-57335800	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr12:57335200-57335800	Flanking Active TSS	NHEK	skin
43	chr12:57335200-57336000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:57335200-57336000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:57335200-57336000	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr12:57335200-57336000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr12:57335200-57336000	Enhancers	Adipose Nuclei	Adipose
48	chr12:57335200-57336000	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr12:57335200-57336000	Enhancers	Fetal Intestine Small	intestine
50	chr12:57335200-57336000	Enhancers	Placenta	Placenta

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