Variant report

Variant	nsv533666
Chromosome Location	chr12:57336297-57374437
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:278)
CpG islands
(count:366)
Chromatin interactive
region (count:39)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:278 , 50 per page) page: 1 2 3 4 5 6

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	chr12:57337230-57337416	K562	blood:	n/a	n/a
4	CBX3	chr12:57359798-57360321	K562	blood:	n/a	n/a
5	CBX3	chr12:57337124-57337565	K562	blood:	n/a	n/a
6	CEBPB	chr12:57344105-57344290	K562	blood:	n/a	n/a
7	CEBPB	chr12:57349345-57349760	HepG2	liver:	n/a	n/a
8	CEBPB	chr12:57349459-57349683	HepG2	liver:	n/a	n/a
9	CEBPB	chr12:57349466-57349757	K562	blood:	n/a	n/a
10	CEBPB	chr12:57349273-57349896	A549	lung:	n/a	chr12:57349277-57349289
11	CEBPB	chr12:57372221-57372421	HepG2	liver:	n/a	n/a
12	CEBPB	chr12:57349354-57349829	MCF-7	breast:	n/a	n/a
13	CEBPB	chr12:57372206-57372347	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr12:57349395-57349785	A549	lung:	n/a	n/a
15	CEBPB	chr12:57341747-57341956	HepG2	liver:	n/a	n/a
16	CEBPB	chr12:57349414-57349774	HepG2	liver:	n/a	n/a
17	CEBPB	chr12:57344063-57344363	HepG2	liver:	n/a	n/a
18	CEBPB	chr12:57349434-57349654	H1-hESC	embryonic stem cell:	n/a	n/a
19	CEBPB	chr12:57344131-57344381	MCF-7	breast:	n/a	n/a
20	CEBPB	chr12:57349413-57349754	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr12:57349377-57349777	A549	lung:	n/a	n/a
22	CEBPB	chr12:57344148-57344348	A549	lung:	n/a	n/a
23	CEBPB	chr12:57349426-57349758	IMR90	lung:	n/a	n/a
24	CEBPZ	chr12:57349503-57349558	HepG2	liver:	n/a	n/a
25	CTCF	chr12:57352440-57352590	GM12864	blood:	n/a	n/a
26	CTCF	chr12:57341520-57341670	BE2_C	brain:	n/a	n/a
27	CTCF	chr12:57351159-57351294	MCF-7	breast:	n/a	n/a
28	CTCF	chr12:57351148-57351153	NHEK	skin:	n/a	n/a
29	CTCF	chr12:57341511-57341629	Lung_OC	lung:	n/a	n/a
30	CTCF	chr12:57341562-57341650	GM10266	blood:	n/a	n/a
31	CTCF	chr12:57374033-57374138	K562	blood:	n/a	n/a
32	CTCF	chr12:57341262-57341993	A549	lung:	n/a	n/a
33	CTCF	chr12:57341500-57341650	HRE	kidney:	n/a	n/a
34	CTCF	chr12:57341500-57341650	RPTEC	kidney:	n/a	n/a
35	CTCF	chr12:57341520-57341670	GM12865	blood:	n/a	n/a
36	CTCF	chr12:57341500-57341650	HMF	breast:	n/a	n/a
37	CTCF	chr12:57341460-57341610	GM12873	blood:	n/a	n/a
38	CTCF	chr12:57341431-57341787	K562	blood:	n/a	n/a
39	CTCF	chr12:57341540-57341690	HCPEpiC	choroid plexus:	n/a	n/a
40	CTCF	chr12:57341489-57341807	K562	blood:	n/a	n/a
41	CTCF	chr12:57341572-57341657	Spleen_OC	spleen:	n/a	n/a
42	CTCF	chr12:57341451-57341776	K562	blood:	n/a	n/a
43	CTCF	chr12:57341507-57341683	A549	lung:	n/a	n/a
44	CTCF	chr12:57341324-57341862	MCF-7	breast:	n/a	n/a
45	CTCF	chr12:57341500-57341650	HCM	heart:	n/a	n/a
46	CTCF	chr12:57341540-57341690	RPTEC	kidney:	n/a	n/a
47	CTCF	chr12:57341510-57341702	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr12:57341540-57341690	GM12874	blood:	n/a	n/a
49	CTCF	chr12:57341560-57341710	HVMF	connective:	n/a	n/a
50	CTCF	chr12:57341397-57341808	HepG2	liver:	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	chr12:57345934-57345984	A549	lung:	n/a
2	chr12:57351732-57351782	GM12891	blood:	n/a
3	chr12:57351732-57351782	AG04449	skin:	fetal
4	chr12:57351191-57351241	BE2_C	brain:	n/a
5	chr12:57352514-57352564	PFSK-1	brain:	n/a
6	chr12:57345934-57345984	ECC-1	luminal epithelium:	n/a
7	chr12:57351191-57351241	HIPEpiC	eye:	n/a
8	chr12:57351732-57351782	NHDF-neo	bronchial:	n/a
9	chr12:57351191-57351241	GM12892	blood:	n/a
10	chr12:57351191-57351241	ovcar-3	ovarian:	n/a
11	chr12:57351732-57351782	NB4	blood:	n/a
12	chr12:57345934-57345984	HIPEpiC	eye:	n/a
13	chr12:57345407-57345457	GM12892	blood:	n/a
14	chr12:57345407-57345457	MCF10A-Er-Src	breast:	n/a
15	chr12:57345934-57345984	HepG2	liver:	n/a
16	chr12:57345934-57345984	AG10803	skin:	n/a
17	chr12:57345934-57345984	GM12878	blood:	n/a
18	chr12:57352514-57352564	HNPCEpiC	eye:	n/a
19	chr12:57345407-57345457	CMK	blood:	n/a
20	chr12:57352514-57352564	HPAEpiC	pulmonary alveolar:	n/a
21	chr12:57351732-57351782	AG04450	lung:	fetal
22	chr12:57345407-57345457	NHDF-neo	bronchial:	n/a
23	chr12:57351856-57351906	ovcar-3	ovarian:	n/a
24	chr12:57351191-57351241	Jurkat	blood:	n/a
25	chr12:57351191-57351241	U87	brain:	n/a
26	chr12:57351856-57351906	HMEC	breast:	n/a
27	chr12:57351191-57351241	NHBE	bronchial:	n/a
28	chr12:57352514-57352564	NB4	blood:	n/a
29	chr12:57345407-57345457	HEK293	kidney:	embryo
30	chr12:57351732-57351782	HUVEC	blood vessel:	n/a
31	chr12:57345934-57345984	HL-60	blood:	n/a
32	chr12:57352514-57352564	AG10803	skin:	n/a
33	chr12:57351856-57351906	NHBE	bronchial:	n/a
34	chr12:57351856-57351906	SK-N-SH	brain:	n/a
35	chr12:57351856-57351906	NB4	blood:	n/a
36	chr12:57351191-57351241	PANC-1	pancreas:	n/a
37	chr12:57351191-57351241	HCPEpiC	choroid plexus:	n/a
38	chr12:57352514-57352564	ovcar-3	ovarian:	n/a
39	chr12:57351191-57351241	SAEC	small airway:	n/a
40	chr12:57345407-57345457	AG09319	gingival:	n/a
41	chr12:57345934-57345984	LNCaP	prostate:	n/a
42	chr12:57351191-57351241	SK-N-SH_RA	brain:	n/a
43	chr12:57351732-57351782	HPAEpiC	pulmonary alveolar:	n/a
44	chr12:57351856-57351906	GM19239	blood:	n/a
45	chr12:57351732-57351782	RPTEC	kidney:	n/a
46	chr12:57351856-57351906	MCF-7	breast:	n/a
47	chr12:57351856-57351906	HUVEC	blood vessel:	n/a
48	chr12:57345407-57345457	NT2-D1	testis:	n/a
49	chr12:57345407-57345457	U87	brain:	n/a
50	chr12:57345934-57345984	SK-N-MC	brain:	n/a

(count:39 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 1364 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1364 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558310972	chr12:57336327-57336328	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs573493907	chr12:57336337-57336338	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs540922366	chr12:57336338-57336339	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs59665366	chr12:57336387-57336388	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs189431628	chr12:57336397-57336398	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs527713861	chr12:57336444-57336445	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs572002479	chr12:57336451-57336452	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs544192244	chr12:57336465-57336466	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs562463345	chr12:57336556-57336557	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs572407688	chr12:57336634-57336635	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs137979526	chr12:57336645-57336646	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs551319121	chr12:57336747-57336748	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs547470523	chr12:57336748-57336749	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs555433441	chr12:57336756-57336757	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs541063097	chr12:57336790-57336791	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs560285735	chr12:57336839-57336840	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs372091203	chr12:57336900-57336901	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs527634963	chr12:57336901-57336902	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs548869929	chr12:57336960-57336961	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs567183207	chr12:57336968-57336969	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs535473749	chr12:57336971-57336972	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs537924393	chr12:57337025-57337026	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs374197259	chr12:57337105-57337106	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs78686312	chr12:57337110-57337111	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs554929785	chr12:57337133-57337134	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs116087535	chr12:57337164-57337165	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs558112035	chr12:57337186-57337187	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs145755074	chr12:57337192-57337193	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs534347399	chr12:57337205-57337206	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs556108511	chr12:57337236-57337237	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs181007665	chr12:57337287-57337288	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs574859871	chr12:57337294-57337295	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs111336462	chr12:57337313-57337314	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs544252143	chr12:57337338-57337339	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs184113426	chr12:57337347-57337348	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs577703805	chr12:57337349-57337350	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs545084194	chr12:57337360-57337361	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs117217021	chr12:57337413-57337414	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs138621894	chr12:57337441-57337442	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs542379498	chr12:57337444-57337445	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs539641161	chr12:57337454-57337455	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs543854854	chr12:57337455-57337456	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs560872056	chr12:57337460-57337461	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs563730990	chr12:57337470-57337471	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs531482370	chr12:57337527-57337528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188797395	chr12:57337556-57337557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546407302	chr12:57337591-57337592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569227929	chr12:57337625-57337626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533314411	chr12:57337634-57337635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181520608	chr12:57337724-57337725	Weak transcription	n/a	n/a	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:149 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57334600-57336400	Enhancers	HMEC	breast
2	chr12:57335000-57336400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:57335000-57336400	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr12:57335000-57336400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:57335000-57336400	Enhancers	HSMM	muscle
6	chr12:57335000-57337200	Enhancers	Liver	Liver
7	chr12:57335200-57336400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr12:57335200-57336400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:57335200-57336400	Enhancers	Esophagus	oesophagus
10	chr12:57335200-57336400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr12:57335200-57336400	Enhancers	Fetal Intestine Large	intestine
12	chr12:57335200-57336400	Enhancers	HSMMtube	muscle
13	chr12:57335200-57336400	Enhancers	K562	blood
14	chr12:57335400-57337200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:57335600-57349200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr12:57335800-57336400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:57335800-57336400	Enhancers	GM12878-XiMat	blood
18	chr12:57335800-57336400	Enhancers	NHEK	skin
19	chr12:57336000-57336400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:57336000-57336400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:57336000-57336400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:57336000-57341800	Weak transcription	Ovary	ovary
23	chr12:57336000-57347400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr12:57336000-57348400	Weak transcription	Brain Angular Gyrus	brain
25	chr12:57336200-57336400	Enhancers	A549	lung
26	chr12:57336200-57336600	Enhancers	HepG2	liver
27	chr12:57336200-57345600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr12:57336200-57347600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr12:57336400-57341800	Weak transcription	Esophagus	oesophagus
30	chr12:57336400-57351000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr12:57337200-57342800	Weak transcription	Liver	Liver
32	chr12:57340600-57347000	Weak transcription	Left Ventricle	heart
33	chr12:57340800-57345400	Weak transcription	Spleen	Spleen
34	chr12:57341400-57342400	Enhancers	HepG2	liver
35	chr12:57341400-57348400	Weak transcription	Brain Hippocampus Middle	brain
36	chr12:57341600-57342200	Enhancers	K562	blood
37	chr12:57341800-57342000	ZNF genes & repeats	Ovary	ovary
38	chr12:57341800-57342200	Enhancers	Esophagus	oesophagus
39	chr12:57342000-57342400	Strong transcription	Ovary	ovary
40	chr12:57342200-57344000	Weak transcription	Esophagus	oesophagus
41	chr12:57342400-57343000	Weak transcription	Ovary	ovary
42	chr12:57342800-57343200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:57342800-57346400	Strong transcription	Liver	Liver
44	chr12:57343000-57343200	Strong transcription	Ovary	ovary
45	chr12:57343200-57344600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:57343200-57345400	Weak transcription	Ovary	ovary
47	chr12:57343400-57344200	Weak transcription	Aorta	Aorta
48	chr12:57344000-57344600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:57344200-57346600	Strong transcription	Aorta	Aorta
50	chr12:57344600-57349200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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