Variant report

Variant	nsv559021
Chromosome Location	chr12:57338716-57381259
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:430)
CpG islands
(count:367)
Chromatin interactive
region (count:62)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:430 , 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	ATF1	chr12:57362833-57363005	K562	blood:	n/a	n/a
2	CBX3	chr12:57352149-57352446	K562	blood:	n/a	n/a
3	CBX3	chr12:57381159-57382610	K562	blood:	n/a	chr12:57382099-57382110
4	CBX3	chr12:57359798-57360321	K562	blood:	n/a	n/a
5	CEBPB	chr12:57349413-57349754	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr12:57344148-57344348	A549	lung:	n/a	n/a
7	CEBPB	chr12:57372206-57372347	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr12:57349426-57349758	IMR90	lung:	n/a	n/a
9	CEBPB	chr12:57349273-57349896	A549	lung:	n/a	chr12:57349277-57349289
10	CEBPB	chr12:57344131-57344381	MCF-7	breast:	n/a	n/a
11	CEBPB	chr12:57344063-57344363	HepG2	liver:	n/a	n/a
12	CEBPB	chr12:57349459-57349683	HepG2	liver:	n/a	n/a
13	CEBPB	chr12:57349414-57349774	HepG2	liver:	n/a	n/a
14	CEBPB	chr12:57372221-57372421	HepG2	liver:	n/a	n/a
15	CEBPB	chr12:57349345-57349760	HepG2	liver:	n/a	n/a
16	CEBPB	chr12:57341747-57341956	HepG2	liver:	n/a	n/a
17	CEBPB	chr12:57349377-57349777	A549	lung:	n/a	n/a
18	CEBPB	chr12:57349466-57349757	K562	blood:	n/a	n/a
19	CEBPB	chr12:57349395-57349785	A549	lung:	n/a	n/a
20	CEBPB	chr12:57349354-57349829	MCF-7	breast:	n/a	n/a
21	CEBPB	chr12:57349434-57349654	H1-hESC	embryonic stem cell:	n/a	n/a
22	CEBPB	chr12:57344105-57344290	K562	blood:	n/a	n/a
23	CEBPZ	chr12:57349503-57349558	HepG2	liver:	n/a	n/a
24	CHD1	chr12:57381120-57382446	IMR90	lung:	n/a	n/a
25	CTCF	chr12:57375670-57375702	GM10266	blood:	n/a	n/a
26	CTCF	chr12:57341500-57341650	MCF-7	breast:	n/a	n/a
27	CTCF	chr12:57341520-57341756	A549	lung:	n/a	n/a
28	CTCF	chr12:57375703-57375715	GM10266	blood:	n/a	n/a
29	CTCF	chr12:57381035-57381883	SK-N-SH	brain:	n/a	chr12:57381486-57381502 chr12:57381491-57381500 chr12:57381487-57381500 chr12:57381488-57381498 chr12:57381485-57381503 chr12:57381480-57381501 chr12:57381487-57381500
30	CTCF	chr12:57381157-57381776	MCF-7	breast:	n/a	chr12:57381486-57381502 chr12:57381491-57381500 chr12:57381487-57381500 chr12:57381488-57381498 chr12:57381485-57381503 chr12:57381480-57381501 chr12:57381487-57381500
31	CTCF	chr12:57359179-57359317	Kidney_OC	kidney:	n/a	n/a
32	CTCF	chr12:57374049-57374136	NHEK	skin:	n/a	n/a
33	CTCF	chr12:57341500-57341650	HCM	heart:	n/a	n/a
34	CTCF	chr12:57351080-57351230	MCF-7	breast:	n/a	n/a
35	CTCF	chr12:57379666-57379795	MCF-7	breast:	n/a	n/a
36	CTCF	chr12:57379615-57379819	MCF-7	breast:	n/a	n/a
37	CTCF	chr12:57379644-57379802	MCF-7	breast:	n/a	n/a
38	CTCF	chr12:57341520-57341670	MCF-7	breast:	n/a	n/a
39	CTCF	chr12:57379600-57379750	MCF-7	breast:	n/a	n/a
40	CTCF	chr12:57341468-57341755	GM12878	blood:	n/a	n/a
41	CTCF	chr12:57341480-57341630	K562	blood:	n/a	n/a
42	CTCF	chr12:57358078-57358098	Medullo	brain:	n/a	n/a
43	CTCF	chr12:57341581-57341635	LNCaP	prostate:	n/a	n/a
44	CTCF	chr12:57379660-57379810	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr12:57351212-57351256	MCF-7	breast:	n/a	n/a
46	CTCF	chr12:57380973-57381928	HCT-116	colon:	n/a	chr12:57381486-57381502 chr12:57381491-57381500 chr12:57381487-57381500 chr12:57381488-57381498 chr12:57381485-57381503 chr12:57381480-57381501 chr12:57381487-57381500
47	CTCF	chr12:57379760-57379910	HCT-116	colon:	n/a	n/a
48	CTCF	chr12:57381252-57381709	HepG2	liver:	n/a	chr12:57381486-57381502 chr12:57381491-57381500 chr12:57381487-57381500 chr12:57381488-57381498 chr12:57381485-57381503 chr12:57381480-57381501 chr12:57381487-57381500
49	CTCF	chr12:57341540-57341690	GM12872	blood:	n/a	n/a
50	CTCF	chr12:57341460-57341610	GM12872	blood:	n/a	n/a

(count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:57351856-57351906	K562	blood:	n/a
2	chr12:57351856-57351906	K562	blood:	n/a
3	chr12:57351732-57351782	AG09309	skin:	n/a
4	chr12:57345407-57345457	MCF-7	breast:	n/a
5	chr12:57351191-57351241	H1-hESC	embryonic stem cell:	embryo
6	chr12:57345934-57345984	A549	lung:	n/a
7	chr12:57351191-57351241	NHBE	bronchial:	n/a
8	chr12:57351856-57351906	GM12878	blood:	n/a
9	chr12:57351856-57351906	A549	lung:	n/a
10	chr12:57345934-57345984	HRE	kidney:	n/a
11	chr12:57352514-57352564	NB4	blood:	n/a
12	chr12:57351191-57351241	SK-N-SH_RA	brain:	n/a
13	chr12:57351732-57351782	GM12891	blood:	n/a
14	chr12:57345407-57345457	NB4	blood:	n/a
15	chr12:57345407-57345457	NT2-D1	testis:	n/a
16	chr12:57351732-57351782	GM19239	blood:	n/a
17	chr12:57351191-57351241	K562	blood:	n/a
18	chr12:57351856-57351906	HCPEpiC	choroid plexus:	n/a
19	chr12:57351856-57351906	GM06990	blood:	n/a
20	chr12:57352514-57352564	H1-hESC	embryonic stem cell:	embryo
21	chr12:57351856-57351906	GM12891	blood:	n/a
22	chr12:57352514-57352564	HEEpiC	esophagus:	n/a
23	chr12:57351856-57351906	HCM	heart:	n/a
24	chr12:57351732-57351782	HEEpiC	esophagus:	n/a
25	chr12:57345934-57345984	MCF-7	breast:	n/a
26	chr12:57345934-57345984	HCT-116	colon:	n/a
27	chr12:57345934-57345984	HMEC	breast:	n/a
28	chr12:57351191-57351241	HCPEpiC	choroid plexus:	n/a
29	chr12:57345934-57345984	HRPEpiC	eye:	n/a
30	chr12:57351856-57351906	NHDF-neo	bronchial:	n/a
31	chr12:57351191-57351241	HNPCEpiC	eye:	n/a
32	chr12:57351191-57351241	HRCEpiC	kidney:	n/a
33	chr12:57352514-57352564	ECC-1	luminal epithelium:	n/a
34	chr12:57352514-57352564	Hepatocyte	liver:	n/a
35	chr12:57351732-57351782	HRPEpiC	eye:	n/a
36	chr12:57351856-57351906	Hepatocyte	liver:	n/a
37	chr12:57351191-57351241	NB4	blood:	n/a
38	chr12:57351856-57351906	HCT-116	colon:	n/a
39	chr12:57351732-57351782	AG04450	lung:	fetal
40	chr12:57351191-57351241	HMEC	breast:	n/a
41	chr12:57351856-57351906	Hela-S3	cervix:	n/a
42	chr12:57351856-57351906	ProgFib	skin:	n/a
43	chr12:57351191-57351241	SKMC	muscle:	n/a
44	chr12:57351856-57351906	HNPCEpiC	eye:	n/a
45	chr12:57351732-57351782	HPAEpiC	pulmonary alveolar:	n/a
46	chr12:57351191-57351241	BJ	skin:	n/a
47	chr12:57351856-57351906	IMR90	lung:	fetal
48	chr12:57351191-57351241	HepG2	liver:	n/a
49	chr12:57351191-57351241	GM12891	blood:	n/a
50	chr12:57351732-57351782	GM12892	blood:	n/a

(count:62 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:57157055..57157574-chr12:57381025..57381543,2	K562	blood:
2	chr12:57116564..57119483-chr12:57379649..57381889,2	MCF-7	breast:
3	chr12:57349736..57351385-chr12:57380003..57382609,2	MCF-7	breast:
4	chr12:57347121..57349496-chr12:57383085..57384758,2	MCF-7	breast:
5	chr12:57325236..57327206-chr12:57341575..57344080,3	MCF-7	breast:
6	chr12:57151005..57151996-chr12:57381006..57381955,2	K562	blood:
7	chr12:57380979..57383508-chr12:57478377..57480452,2	MCF-7	breast:
8	chr12:57351472..57353366-chr12:57371615..57374205,2	MCF-7	breast:
9	chr12:57156608..57159061-chr12:57379164..57381627,2	MCF-7	breast:
10	chr12:57341072..57342721-chr12:57384674..57386261,2	K562	blood:
11	chr12:57327540..57330418-chr12:57347371..57350395,3	K562	blood:
12	chr12:57151018..57151992-chr12:57381056..57381889,5	MCF-7	breast:
13	chr12:57347864..57350577-chr12:57381566..57383920,2	MCF-7	breast:
14	chr12:57326458..57328470-chr12:57381157..57384002,3	MCF-7	breast:
15	chr12:57381112..57381620-chr12:57394915..57395894,2	MCF-7	breast:
16	chr12:57349736..57351385-chr12:57380003..57382609,2	MCF-7	breast:
17	chr12:57341567..57342147-chr12:57381088..57381948,3	MCF-7	breast:
18	chr12:57333897..57335886-chr12:57347612..57349669,2	MCF-7	breast:
19	chr12:57233379..57233935-chr12:57351193..57351985,2	MCF-7	breast:
20	chr12:57350025..57351752-chr12:57359432..57361772,2	MCF-7	breast:
21	chr12:57338428..57340285-chr12:57349754..57351660,2	MCF-7	breast:
22	chr12:57321673..57323369-chr12:57347515..57349644,2	MCF-7	breast:
23	chr12:57349108..57350665-chr12:57479276..57481586,2	MCF-7	breast:
24	chr12:57345020..57348622-chr12:57399414..57401826,4	MCF-7	breast:
25	chr12:57211985..57213673-chr12:57349961..57351583,2	MCF-7	breast:
26	chr12:57327126..57329472-chr12:57342749..57346552,3	MCF-7	breast:
27	chr12:57338428..57340285-chr12:57349754..57351660,2	MCF-7	breast:
28	chr12:57347827..57349628-chr12:57379616..57381539,3	MCF-7	breast:
29	chr12:57350025..57351752-chr12:57359432..57361772,2	MCF-7	breast:
30	chr12:57380165..57383091-chr12:57391250..57394280,3	K562	blood:
31	chr12:57351085..57351674-chr12:57381073..57381575,2	MCF-7	breast:
32	chr12:57374244..57376394-chr12:57378626..57381125,2	MCF-7	breast:
33	chr12:57340605..57343794-chr12:57388280..57390645,3	MCF-7	breast:
34	chr12:57349241..57352181-chr12:57373731..57375876,2	MCF-7	breast:
35	chr12:57341397..57342171-chr12:57399982..57400550,2	MCF-7	breast:
36	chr12:57232928..57235574-chr12:57379321..57382266,3	MCF-7	breast:
37	chr12:57341090..57342031-chr12:57380872..57381968,6	MCF-7	breast:
38	chr12:57351085..57351674-chr12:57381073..57381575,2	MCF-7	breast:
39	chr12:57232476..57232993-chr12:57380642..57381474,2	MCF-7	breast:
40	chr12:57374244..57376394-chr12:57378626..57381125,2	MCF-7	breast:
41	chr12:57023280..57025743-chr12:57378551..57381481,2	MCF-7	breast:
42	chr12:57156626..57157533-chr12:57381026..57381957,4	MCF-7	breast:
43	chr12:57144393..57147298-chr12:57377477..57379944,2	MCF-7	breast:
44	chr12:57341567..57342147-chr12:57381088..57381948,3	MCF-7	breast:
45	chr12:57342671..57345733-chr12:57481207..57484376,3	MCF-7	breast:
46	chr12:57381152..57386440-chr12:57387295..57390805,5	K562	blood:
47	chr12:57370332..57372734-chr12:57384660..57386537,2	K562	blood:
48	chr12:57327918..57330814-chr12:57348513..57351502,2	MCF-7	breast:
49	chr12:57378196..57379774-chr12:57392369..57394699,2	MCF-7	breast:
50	chr12:57347827..57349628-chr12:57379616..57381539,3	MCF-7	breast:

No data

Variant related genes	Relation type
RDH16	TF binding region
RDH16	CpG island
ENSG00000076108	chromatin interactions
ENSG00000196531	chromatin interactions
ENSG00000166886	chromatin interactions
ENSG00000268162	chromatin interactions
ENSG00000166881	chromatin interactions
ENSG00000198056	chromatin interactions
ENSG00000139547	chromatin interactions
ENSG00000025423	chromatin interactions
ENSG00000166856	chromatin interactions
ENSG00000166860	chromatin interactions
ENSG00000258442	chromatin interactions
ENSG00000110958	chromatin interactions
ENSG00000170426	chromatin interactions

Extended variants
information (count: 1485 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1485 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1102668	chr12:57338716-57338717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190996632	chr12:57338718-57338719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78644614	chr12:57338806-57338807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543214876	chr12:57338814-57338815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554683924	chr12:57338842-57338843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565204216	chr12:57338886-57338887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577039468	chr12:57338897-57338898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142004599	chr12:57338905-57338906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146339257	chr12:57338908-57338909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527834129	chr12:57338920-57338921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182286305	chr12:57338928-57338929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576968622	chr12:57338972-57338973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528359572	chr12:57339002-57339003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186897031	chr12:57339009-57339010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190165157	chr12:57339011-57339012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550079224	chr12:57339041-57339042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182741834	chr12:57339062-57339063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538949249	chr12:57339063-57339064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547032175	chr12:57339087-57339088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565335716	chr12:57339140-57339141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574726657	chr12:57339141-57339142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535801481	chr12:57339171-57339172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112559737	chr12:57339172-57339173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143723418	chr12:57339183-57339184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188662190	chr12:57339185-57339186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558455312	chr12:57339214-57339215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557468574	chr12:57339222-57339223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577107369	chr12:57339238-57339239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192989999	chr12:57339262-57339263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113399458	chr12:57339290-57339291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113037312	chr12:57339291-57339292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs398019750	chr12:57339293-57339294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376745658	chr12:57339304-57339305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76170866	chr12:57339328-57339329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572480304	chr12:57339553-57339554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185642704	chr12:57339557-57339558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1846399	chr12:57339588-57339589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531690061	chr12:57339610-57339611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533334610	chr12:57339619-57339620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139464265	chr12:57339625-57339626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565329111	chr12:57339658-57339659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144206624	chr12:57339661-57339662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188904416	chr12:57339683-57339684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565995662	chr12:57339689-57339690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529659253	chr12:57339724-57339725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550373270	chr12:57339732-57339733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569763629	chr12:57339748-57339749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536736530	chr12:57339809-57339810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559958719	chr12:57339861-57339862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558761749	chr12:57339890-57339891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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

Chromatin state (count:238 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57335600-57349200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr12:57336000-57341800	Weak transcription	Ovary	ovary
3	chr12:57336000-57347400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr12:57336000-57348400	Weak transcription	Brain Angular Gyrus	brain
5	chr12:57336200-57345600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr12:57336200-57347600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:57336400-57341800	Weak transcription	Esophagus	oesophagus
8	chr12:57336400-57351000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr12:57337200-57342800	Weak transcription	Liver	Liver
10	chr12:57340600-57347000	Weak transcription	Left Ventricle	heart
11	chr12:57340800-57345400	Weak transcription	Spleen	Spleen
12	chr12:57341400-57342400	Enhancers	HepG2	liver
13	chr12:57341400-57348400	Weak transcription	Brain Hippocampus Middle	brain
14	chr12:57341600-57342200	Enhancers	K562	blood
15	chr12:57341800-57342000	ZNF genes & repeats	Ovary	ovary
16	chr12:57341800-57342200	Enhancers	Esophagus	oesophagus
17	chr12:57342000-57342400	Strong transcription	Ovary	ovary
18	chr12:57342200-57344000	Weak transcription	Esophagus	oesophagus
19	chr12:57342400-57343000	Weak transcription	Ovary	ovary
20	chr12:57342800-57343200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:57342800-57346400	Strong transcription	Liver	Liver
22	chr12:57343000-57343200	Strong transcription	Ovary	ovary
23	chr12:57343200-57344600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:57343200-57345400	Weak transcription	Ovary	ovary
25	chr12:57343400-57344200	Weak transcription	Aorta	Aorta
26	chr12:57344000-57344600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:57344200-57346600	Strong transcription	Aorta	Aorta
28	chr12:57344600-57349200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:57344800-57345000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:57345400-57345800	Strong transcription	Ovary	ovary
31	chr12:57345400-57346000	Strong transcription	Spleen	Spleen
32	chr12:57345600-57346000	Strong transcription	Skeletal Muscle Male	skeletal muscle
33	chr12:57345800-57350400	Weak transcription	Ovary	ovary
34	chr12:57346000-57346200	Weak transcription	Spleen	Spleen
35	chr12:57346000-57347800	Weak transcription	Esophagus	oesophagus
36	chr12:57346000-57354200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr12:57346200-57346600	Genic enhancers	Spleen	Spleen
38	chr12:57346400-57346600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
39	chr12:57346400-57347000	Genic enhancers	Liver	Liver
40	chr12:57346600-57347200	Weak transcription	Spleen	Spleen
41	chr12:57346600-57350400	Weak transcription	Aorta	Aorta
42	chr12:57347000-57349400	Transcr. at gene 5' and 3'	Liver	Liver
43	chr12:57347200-57347600	Enhancers	Spleen	Spleen
44	chr12:57347600-57348600	Weak transcription	Spleen	Spleen
45	chr12:57347800-57348200	Enhancers	Esophagus	oesophagus
46	chr12:57348200-57349400	Weak transcription	Esophagus	oesophagus
47	chr12:57348400-57350000	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr12:57348600-57350000	Enhancers	Spleen	Spleen
49	chr12:57349000-57349200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:57349000-57349400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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