Variant report

Variant	nsv695
Chromosome Location	chr12:48043261-48088221
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:633)
CpG islands
(count:122)
Chromatin interactive
region (count:45)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:633 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:48045429-48047004	HepG2	liver:	n/a	n/a
2	ATF1	chr12:48062471-48062476	K562	blood:	n/a	n/a
3	BATF	chr12:48066032-48066325	GM12878	blood:	n/a	n/a
4	BHLHE40	chr12:48046326-48046923	HepG2	liver:	n/a	n/a
5	CEBPB	chr12:48083009-48083402	A549	lung:	n/a	chr12:48083178-48083189
6	CEBPB	chr12:48061848-48061867	HepG2	liver:	n/a	n/a
7	CEBPB	chr12:48061862-48061986	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr12:48083047-48083274	Hela-S3	cervix:	n/a	chr12:48083178-48083189
9	CEBPB	chr12:48046536-48046720	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr12:48083069-48083276	K562	blood:	n/a	chr12:48083178-48083189
11	CEBPB	chr12:48083087-48083243	HepG2	liver:	n/a	chr12:48083178-48083189
12	CEBPB	chr12:48046438-48046939	HepG2	liver:	n/a	n/a
13	CEBPB	chr12:48046644-48046814	HepG2	liver:	n/a	n/a
14	CEBPB	chr12:48061812-48062025	A549	lung:	n/a	n/a
15	CEBPB	chr12:48061853-48061998	H1-hESC	embryonic stem cell:	n/a	n/a
16	CEBPB	chr12:48061818-48062042	IMR90	lung:	n/a	n/a
17	CHD1	chr12:48045392-48045839	IMR90	lung:	n/a	n/a
18	CREB1	chr12:48046460-48047010	HepG2	liver:	n/a	n/a
19	CTCF	chr12:48080300-48080450	SK-N-SH_RA	brain:	n/a	n/a
20	CTCF	chr12:48045381-48045853	MCF-7	breast:	n/a	chr12:48045595-48045613 chr12:48045597-48045618
21	CTCF	chr12:48080480-48080701	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr12:48080523-48080721	HepG2	liver:	n/a	n/a
23	CTCF	chr12:48051488-48051589	HepG2	liver:	n/a	chr12:48051536-48051557 chr12:48051541-48051559
24	CTCF	chr12:48045580-48045730	GM12875	blood:	n/a	chr12:48045595-48045613 chr12:48045597-48045618
25	CTCF	chr12:48045520-48045670	AG10803	skin:	n/a	chr12:48045595-48045613 chr12:48045597-48045618
26	CTCF	chr12:48045520-48045670	AG04450	lung:	n/a	chr12:48045595-48045613 chr12:48045597-48045618
27	CTCF	chr12:48080331-48080869	MCF-7	breast:	n/a	n/a
28	CTCF	chr12:48080620-48080770	HCT-116	colon:	n/a	n/a
29	CTCF	chr12:48045540-48045690	NHEK	skin:	n/a	chr12:48045595-48045613 chr12:48045597-48045618
30	CTCF	chr12:48080274-48080923	HCT-116	colon:	n/a	n/a
31	CTCF	chr12:48080500-48080650	GM06990	blood:	n/a	n/a
32	CTCF	chr12:48045540-48045690	BJ	skin:	n/a	chr12:48045595-48045613 chr12:48045597-48045618
33	CTCF	chr12:48080480-48080630	RPTEC	kidney:	n/a	n/a
34	CTCF	chr12:48080580-48080730	HFF-Myc	foreskin:	n/a	n/a
35	CTCF	chr12:48045520-48045670	Caco-2	colon:	n/a	chr12:48045595-48045613 chr12:48045597-48045618
36	CTCF	chr12:48080560-48080710	K562	blood:	n/a	n/a
37	CTCF	chr12:48080501-48080770	Medullo	brain:	n/a	n/a
38	CTCF	chr12:48045560-48045710	GM12871	blood:	n/a	chr12:48045595-48045613 chr12:48045597-48045618
39	CTCF	chr12:48080540-48080690	HPF	lung:	n/a	n/a
40	CTCF	chr12:48045496-48045716	SK-N-SH_RA	brain:	n/a	chr12:48045595-48045613 chr12:48045597-48045618
41	CTCF	chr12:48080520-48080670	HCT-116	colon:	n/a	n/a
42	CTCF	chr12:48045295-48045334	GM19240	blood:	n/a	n/a
43	CTCF	chr12:48080540-48080690	AG04450	lung:	n/a	n/a
44	CTCF	chr12:48053540-48053690	HAc	cerebellar:	n/a	n/a
45	CTCF	chr12:48045480-48045630	GM12866	blood:	n/a	chr12:48045595-48045613 chr12:48045597-48045618
46	CTCF	chr12:48080548-48080691	GM20000	blood:	n/a	n/a
47	CTCF	chr12:48045376-48045781	K562	blood:	n/a	chr12:48045595-48045613 chr12:48045597-48045618
48	CTCF	chr12:48045395-48045838	IMR90	lung:	n/a	chr12:48045595-48045613 chr12:48045597-48045618
49	CTCF	chr12:48051460-48051610	WERI-Rb-1	eye:	n/a	chr12:48051536-48051557 chr12:48051541-48051559
50	CTCF	chr12:48045442-48045714	SK-N-SH_RA	brain:	n/a	chr12:48045595-48045613 chr12:48045597-48045618

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:48044905-48044955	MCF10A-Er-Src	breast:	n/a
2	chr12:48044905-48044955	BJ	skin:	n/a
3	chr12:48058400-48058450	AoSMC	blood vessel:	n/a
4	chr12:48044905-48044955	GM12891	blood:	n/a
5	chr12:48058400-48058450	T-47D	breast:	n/a
6	chr12:48044905-48044955	NHDF-neo	bronchial:	n/a
7	chr12:48044905-48044955	HepG2	liver:	n/a
8	chr12:48044905-48044955	HCF	heart:	n/a
9	chr12:48058400-48058450	HAEpiC	amniotic membrane:	n/a
10	chr12:48058400-48058450	GM12878	blood:	n/a
11	chr12:48044905-48044955	SK-N-SH	brain:	n/a
12	chr12:48058400-48058450	Hepatocyte	liver:	n/a
13	chr12:48058400-48058450	ProgFib	skin:	n/a
14	chr12:48044905-48044955	Hepatocyte	liver:	n/a
15	chr12:48058400-48058450	CMK	blood:	n/a
16	chr12:48044905-48044955	HRPEpiC	eye:	n/a
17	chr12:48058400-48058450	H1-hESC	embryonic stem cell:	embryo
18	chr12:48044905-48044955	Caco-2	colon:	n/a
19	chr12:48044905-48044955	HIPEpiC	eye:	n/a
20	chr12:48058400-48058450	K562	blood:	n/a
21	chr12:48058400-48058450	U87	brain:	n/a
22	chr12:48044905-48044955	AG09319	gingival:	n/a
23	chr12:48044905-48044955	RPTEC	kidney:	n/a
24	chr12:48058400-48058450	HCM	heart:	n/a
25	chr12:48058400-48058450	HUVEC	blood vessel:	n/a
26	chr12:48044905-48044955	AG04449	skin:	fetal
27	chr12:48058400-48058450	NB4	blood:	n/a
28	chr12:48058400-48058450	AG10803	skin:	n/a
29	chr12:48058400-48058450	SKMC	muscle:	n/a
30	chr12:48058400-48058450	Caco-2	colon:	n/a
31	chr12:48044905-48044955	CMK	blood:	n/a
32	chr12:48058400-48058450	HCF	heart:	n/a
33	chr12:48044905-48044955	HMEC	breast:	n/a
34	chr12:48058400-48058450	AG04450	lung:	fetal
35	chr12:48044905-48044955	HAEpiC	amniotic membrane:	n/a
36	chr12:48058400-48058450	HRPEpiC	eye:	n/a
37	chr12:48044905-48044955	ECC-1	luminal epithelium:	n/a
38	chr12:48044905-48044955	NHBE	bronchial:	n/a
39	chr12:48058400-48058450	HMEC	breast:	n/a
40	chr12:48058400-48058450	ovcar-3	ovarian:	n/a
41	chr12:48044905-48044955	MCF-7	breast:	n/a
42	chr12:48044905-48044955	Hela-S3	cervix:	n/a
43	chr12:48044905-48044955	K562	blood:	n/a
44	chr12:48058400-48058450	AG04449	skin:	fetal
45	chr12:48044905-48044955	A549	lung:	n/a
46	chr12:48044905-48044955	BE2_C	brain:	n/a
47	chr12:48044905-48044955	HCT-116	colon:	n/a
48	chr12:48044905-48044955	HL-60	blood:	n/a
49	chr12:48044905-48044955	HPAEpiC	pulmonary alveolar:	n/a
50	chr12:48058400-48058450	BE2_C	brain:	n/a

(count:45 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:48045249..48046046-chr12:48080121..48081065,3	MCF-7	breast:
2	chr12:48082733..48084619-chr12:48086537..48089093,2	K562	blood:
3	chr12:48051468..48053610-chr12:48056133..48058641,2	K562	blood:
4	chr12:48059314..48062042-chr12:48063084..48066316,3	K562	blood:
5	chr12:48079504..48082471-chr12:48085134..48087838,3	K562	blood:
6	chr12:48082467..48084685-chr12:48086429..48089093,4	K562	blood:
7	chr12:48045249..48046046-chr12:48080121..48081065,3	MCF-7	breast:
8	chr12:48072254..48074944-chr12:48080912..48083619,2	K562	blood:
9	chr12:48044527..48046603-chr12:48048041..48049724,2	K562	blood:
10	chr12:48082467..48084685-chr12:48086429..48089093,4	K562	blood:
11	chr12:48044022..48046311-chr12:48051570..48054955,3	K562	blood:
12	chr12:48081189..48083010-chr12:48095992..48097912,2	K562	blood:
13	chr12:48085079..48087645-chr12:48089413..48091227,2	K562	blood:
14	chr12:48041265..48043377-chr12:48228501..48230073,2	K562	blood:
15	chr12:48042180..48043761-chr12:48096547..48099075,2	K562	blood:
16	chr12:48076547..48079289-chr12:48099321..48101078,2	K562	blood:
17	chr12:48079504..48082471-chr12:48085134..48087838,3	K562	blood:
18	chr12:48045147..48046102-chr12:48080596..48081443,2	K562	blood:
19	chr12:48049652..48051782-chr12:48054886..48057074,2	K562	blood:
20	chr12:48049652..48051782-chr12:48054886..48057074,2	K562	blood:
21	chr12:48044022..48046311-chr12:48051570..48054955,3	K562	blood:
22	chr12:47940612..47941519-chr12:48080237..48081015,3	K562	blood:
23	chr12:47426505..47427015-chr12:48080605..48081500,2	K562	blood:
24	chr12:48050085..48052473-chr12:48066731..48069120,2	K562	blood:
25	chr12:48044527..48046603-chr12:48048041..48049724,2	K562	blood:
26	chr12:48085007..48087672-chr12:48089308..48092914,4	K562	blood:
27	chr12:48050085..48052473-chr12:48066731..48069120,2	K562	blood:
28	chr12:47801819..47802723-chr12:48080350..48081018,2	MCF-7	breast:
29	chr12:48058375..48060319-chr12:48098023..48100043,2	K562	blood:
30	chr12:48058363..48062042-chr12:48064816..48068792,4	K562	blood:
31	chr12:48074943..48076860-chr12:48080990..48083244,2	MCF-7	breast:
32	chr12:48083861..48085835-chr12:48091960..48094223,2	MCF-7	breast:
33	chr12:47940639..47941454-chr12:48051090..48052018,3	MCF-7	breast:
34	chr12:48079877..48082271-chr12:48092983..48095366,2	K562	blood:
35	chr12:48081310..48083010-chr12:48095296..48097492,2	K562	blood:
36	chr12:47426174..47426833-chr12:48051074..48051739,2	MCF-7	breast:
37	chr12:48040105..48042458-chr12:48048872..48051635,2	K562	blood:
38	chr12:48082326..48084499-chr12:48098211..48100235,2	MCF-7	breast:
39	chr12:48072254..48074944-chr12:48080912..48083619,2	K562	blood:
40	chr12:48045147..48046102-chr12:48080596..48081443,2	K562	blood:
41	chr12:48074943..48076860-chr12:48080990..48083244,2	MCF-7	breast:
42	chr12:48082733..48084619-chr12:48086537..48089093,2	K562	blood:
43	chr12:48064589..48067295-chr12:48089738..48092390,2	K562	blood:
44	chr12:48059314..48062042-chr12:48063084..48066316,3	K562	blood:
45	chr12:48066566..48068151-chr12:48097964..48100528,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ENDOU-6	chr12:48058373-48058626	NONHSAT027930
2	lnc-ENDOU-6	chr12:48057073-48057373	NONHSAT027930

No data

Variant related genes	Relation type
RPAP3	TF binding region
RPAP3	CpG island
ENSG00000257433	chromatin interactions
ENSG00000005175	chromatin interactions

Extended variants
information (count: 1597 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1597 , 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	rs79752973	chr12:48043268-48043269	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs545285234	chr12:48043286-48043287	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs543558903	chr12:48043325-48043326	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs530489176	chr12:48043349-48043350	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs565370952	chr12:48043353-48043354	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs1233059	chr12:48043445-48043446	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs560917991	chr12:48043449-48043450	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs529823651	chr12:48043455-48043456	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs541419221	chr12:48043466-48043467	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs368860878	chr12:48043488-48043489	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs75568526	chr12:48043501-48043502	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
12	rs530431476	chr12:48043520-48043521	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs193265448	chr12:48043534-48043535	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs141930745	chr12:48043544-48043545	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs114436283	chr12:48043549-48043550	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs116302411	chr12:48043571-48043572	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs184178325	chr12:48043572-48043573	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs146198614	chr12:48043611-48043612	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs56240307	chr12:48043638-48043639	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs531123169	chr12:48043674-48043675	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs11168186	chr12:48043687-48043688	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs150362998	chr12:48043697-48043698	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs370095862	chr12:48043738-48043739	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs371408123	chr12:48043836-48043837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138030382	chr12:48043838-48043839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149597727	chr12:48043854-48043855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189551560	chr12:48043857-48043858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12426347	chr12:48043868-48043869	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs529760068	chr12:48043878-48043879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138821061	chr12:48043903-48043904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560022791	chr12:48043931-48043932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141913234	chr12:48043944-48043945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146394483	chr12:48043960-48043961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148597863	chr12:48043980-48043981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112662173	chr12:48043990-48043991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548512013	chr12:48043999-48044000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11168187	chr12:48044011-48044012	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
38	rs369122398	chr12:48044015-48044016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs533961527	chr12:48044116-48044117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554225389	chr12:48044133-48044134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570876552	chr12:48044151-48044152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs78741829	chr12:48044195-48044196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142968788	chr12:48044196-48044197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs1233058	chr12:48044214-48044215	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs538131244	chr12:48044237-48044238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535391525	chr12:48044285-48044286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566403213	chr12:48044289-48044290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs150675334	chr12:48044302-48044303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574468458	chr12:48044315-48044316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556835778	chr12:48044340-48044341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	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
T-cell prolymphocytic leukemia	17713554	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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Breast cancer	21785460	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1252 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48007400-48044800	Weak transcription	Aorta	Aorta
2	chr12:48007400-48055400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:48015600-48055200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:48016000-48044400	Weak transcription	NH-A	brain
5	chr12:48023600-48044800	Weak transcription	Gastric	stomach
6	chr12:48029400-48055400	Weak transcription	Thymus	Thymus
7	chr12:48029800-48098800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:48031000-48044600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:48031000-48083200	Weak transcription	Esophagus	oesophagus
10	chr12:48031200-48051400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:48031200-48053200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:48031400-48044600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:48031400-48046200	Weak transcription	Fetal Stomach	stomach
14	chr12:48031400-48058400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:48031600-48044000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:48031600-48044600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr12:48032200-48045800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr12:48035000-48044600	Weak transcription	HSMM	muscle
19	chr12:48036400-48044600	Weak transcription	NHDF-Ad	bronchial
20	chr12:48036600-48055400	Weak transcription	Ovary	ovary
21	chr12:48038200-48044200	Weak transcription	Osteobl	bone
22	chr12:48038200-48059400	Weak transcription	Small Intestine	intestine
23	chr12:48038400-48044200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:48038600-48051400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:48038800-48044600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr12:48038800-48045000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:48038800-48045800	Weak transcription	Primary T cells from cord blood	blood
28	chr12:48038800-48046000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr12:48039000-48044600	Weak transcription	Primary B cells from peripheral blood	blood
30	chr12:48039000-48052800	Weak transcription	Dnd41	blood
31	chr12:48039200-48044600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr12:48039200-48044800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:48039200-48045000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr12:48039200-48046000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr12:48039200-48046200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr12:48039200-48052800	Weak transcription	Fetal Intestine Large	intestine
37	chr12:48039400-48045000	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr12:48039400-48058400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr12:48039800-48045400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr12:48040000-48044200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr12:48040000-48051400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr12:48040200-48044200	Weak transcription	GM12878-XiMat	blood
43	chr12:48040200-48045600	Weak transcription	Primary hematopoietic stem cells	blood
44	chr12:48040200-48050000	Weak transcription	Primary B cells from cord blood	blood
45	chr12:48040400-48044800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr12:48040600-48045600	Weak transcription	Fetal Kidney	kidney
47	chr12:48040600-48086000	Weak transcription	Fetal Brain Male	brain
48	chr12:48040800-48045000	Weak transcription	HMEC	breast
49	chr12:48041400-48045000	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr12:48041800-48044200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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