Variant report

Variant	esv3400754
Chromosome Location	chr12:29935710-29938558
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:250)
CpG islands
(count:855)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:250 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr12:29937171-29937398	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr12:29935121-29936543	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr12:29935213-29936304	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr12:29936014-29936218	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr12:29935242-29935718	IMR90	lung:	n/a	n/a
6	CHD1	chr12:29934973-29937715	IMR90	lung:	n/a	chr12:29936887-29936897
7	CHD1	chr12:29935672-29936902	H1-hESC	embryonic stem cell:	n/a	chr12:29936887-29936897
8	CHD2	chr12:29936639-29937431	Hela-S3	cervix:	n/a	chr12:29936887-29936897
9	CHD2	chr12:29936959-29937008	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD2	chr12:29937259-29937298	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD2	chr12:29935116-29935740	Hela-S3	cervix:	n/a	n/a
12	CHD2	chr12:29935989-29936421	Hela-S3	cervix:	n/a	n/a
13	CTBP2	chr12:29935729-29936977	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr12:29937200-29937350	SK-N-SH_RA	brain:	n/a	n/a
15	CTCF	chr12:29936492-29936626	LNCaP	prostate:	n/a	n/a
16	CTCF	chr12:29936420-29936570	SAEC	small airway:	n/a	n/a
17	CTCF	chr12:29936400-29936550	WERI-Rb-1	eye:	n/a	n/a
18	CTCF	chr12:29936440-29936590	HMEC	breast:	n/a	n/a
19	CTCF	chr12:29936494-29936593	Gliobla	brain:	n/a	n/a
20	CTCF	chr12:29936444-29936592	HepG2	liver:	n/a	n/a
21	CTCF	chr12:29936340-29936490	HEK293	kidney:	n/a	n/a
22	CTCF	chr12:29936400-29936550	AoAF	blood vessel:	n/a	n/a
23	CTCF	chr12:29936400-29936550	HRE	kidney:	n/a	n/a
24	CTCF	chr12:29937300-29937450	HBMEC	blood vessel:	n/a	n/a
25	CTCF	chr12:29936497-29936552	GM10266	blood:	n/a	n/a
26	CTCF	chr12:29936482-29936587	Fibrobl	skin:	n/a	n/a
27	CTCF	chr12:29936400-29936550	HUVEC	blood vessel:	n/a	n/a
28	CTCF	chr12:29936400-29936550	NHDF-neo	bronchial:	n/a	n/a
29	CTCF	chr12:29936340-29936490	HCM	heart:	n/a	n/a
30	CTCF	chr12:29936495-29936601	MCF-7	breast:	n/a	n/a
31	CTCF	chr12:29936484-29936581	GM19239	blood:	n/a	n/a
32	CTCF	chr12:29937460-29937610	HUVEC	blood vessel:	n/a	n/a
33	CTCF	chr12:29936360-29936510	HUVEC	blood vessel:	n/a	n/a
34	CTCF	chr12:29936400-29936550	AG04449	skin:	n/a	n/a
35	CTCF	chr12:29936460-29936616	NHEK	skin:	n/a	n/a
36	CTCF	chr12:29936475-29936614	MCF-7	breast:	n/a	n/a
37	CTCF	chr12:29936400-29936550	HCPEpiC	choroid plexus:	n/a	n/a
38	CTCF	chr12:29936400-29936550	SK-N-SH_RA	brain:	n/a	n/a
39	CTCF	chr12:29936420-29936570	HPAF	blood vessel:	n/a	n/a
40	CTCF	chr12:29936432-29936601	A549	lung:	n/a	n/a
41	CTCF	chr12:29936423-29936675	GM12878	blood:	n/a	n/a
42	CTCF	chr12:29936529-29936537	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr12:29936440-29936590	BJ	skin:	n/a	n/a
44	CTCF	chr12:29936440-29936590	HPF	lung:	n/a	n/a
45	CTCF	chr12:29936480-29936630	HRPEpiC	eye:	n/a	n/a
46	CTCF	chr12:29936422-29936607	MCF-7	breast:	n/a	n/a
47	CTCF	chr12:29936502-29936575	MCF-7	breast:	n/a	n/a
48	CTCF	chr12:29936440-29936590	SK-N-SH_RA	brain:	n/a	n/a
49	CTCF	chr12:29936440-29936590	NHEK	skin:	n/a	n/a
50	CTCF	chr12:29936479-29936593	GM19238	blood:	n/a	n/a

(count:855 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:29936125-29936175	HMEC	breast:	n/a
2	chr12:29936125-29936175	HMEC	breast:	n/a
3	chr12:29937733-29937783	HL-60	blood:	n/a
4	chr12:29937343-29937393	MCF-7	breast:	n/a
5	chr12:29936845-29936895	Jurkat	blood:	n/a
6	chr12:29937188-29937238	Hepatocyte	liver:	n/a
7	chr12:29937188-29937238	HRCEpiC	kidney:	n/a
8	chr12:29936174-29936224	NB4	blood:	n/a
9	chr12:29936839-29936889	HIPEpiC	eye:	n/a
10	chr12:29936125-29936175	RPTEC	kidney:	n/a
11	chr12:29938317-29938367	T-47D	breast:	n/a
12	chr12:29936075-29936125	HRPEpiC	eye:	n/a
13	chr12:29937733-29937783	HMEC	breast:	n/a
14	chr12:29936839-29936889	CMK	blood:	n/a
15	chr12:29936972-29937022	HIPEpiC	eye:	n/a
16	chr12:29936407-29936457	AG04450	lung:	fetal
17	chr12:29935873-29935923	PFSK-1	brain:	n/a
18	chr12:29937733-29937783	PANC-1	pancreas:	n/a
19	chr12:29937343-29937393	HEK293	kidney:	embryo
20	chr12:29937585-29937635	NB4	blood:	n/a
21	chr12:29938317-29938367	GM12891	blood:	n/a
22	chr12:29936125-29936175	ProgFib	skin:	n/a
23	chr12:29937343-29937393	Caco-2	colon:	n/a
24	chr12:29936839-29936889	HepG2	liver:	n/a
25	chr12:29937585-29937635	NHBE	bronchial:	n/a
26	chr12:29935873-29935923	HCPEpiC	choroid plexus:	n/a
27	chr12:29936174-29936224	T-47D	breast:	n/a
28	chr12:29938317-29938367	MCF-7	breast:	n/a
29	chr12:29936075-29936125	PANC-1	pancreas:	n/a
30	chr12:29936839-29936889	SK-N-SH_RA	brain:	n/a
31	chr12:29937733-29937783	ProgFib	skin:	n/a
32	chr12:29936125-29936175	IMR90	lung:	fetal
33	chr12:29938317-29938367	HEK293	kidney:	embryo
34	chr12:29937343-29937393	ECC-1	luminal epithelium:	n/a
35	chr12:29936972-29937022	HL-60	blood:	n/a
36	chr12:29937585-29937635	H1-hESC	embryonic stem cell:	embryo
37	chr12:29936407-29936457	NHBE	bronchial:	n/a
38	chr12:29937585-29937635	RPTEC	kidney:	n/a
39	chr12:29936125-29936175	AoSMC	blood vessel:	n/a
40	chr12:29937188-29937238	HepG2	liver:	n/a
41	chr12:29936839-29936889	AG10803	skin:	n/a
42	chr12:29937733-29937783	HepG2	liver:	n/a
43	chr12:29936486-29936536	GM19239	blood:	n/a
44	chr12:29935873-29935923	U87	brain:	n/a
45	chr12:29936407-29936457	HepG2	liver:	n/a
46	chr12:29936174-29936224	AG10803	skin:	n/a
47	chr12:29938317-29938367	RPTEC	kidney:	n/a
48	chr12:29937585-29937635	BJ	skin:	n/a
49	chr12:29937733-29937783	AG09319	gingival:	n/a
50	chr12:29935873-29935923	H1-hESC	embryonic stem cell:	embryo

No data

Variant related genes	Relation type
TMTC1	TF binding region
TMTC1	CpG island

Extended variants
information (count: 94 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564441546	chr12:29935731-29935732	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
2	rs570030678	chr12:29935844-29935845	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs537008184	chr12:29935865-29935866	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs528518197	chr12:29935898-29935899	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs540435641	chr12:29935917-29935918	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs1002888	chr12:29936006-29936007	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs570609361	chr12:29936059-29936060	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs557278690	chr12:29936095-29936096	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs118012339	chr12:29936153-29936154	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs552868437	chr12:29936154-29936155	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs574546866	chr12:29936184-29936185	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs577660697	chr12:29936187-29936188	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs557249199	chr12:29936263-29936264	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs570293280	chr12:29936279-29936280	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs368059008	chr12:29936280-29936281	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs575610302	chr12:29936298-29936299	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs545809934	chr12:29936307-29936308	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs564109095	chr12:29936338-29936339	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs200488585	chr12:29936426-29936427	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
20	rs112603144	chr12:29936472-29936473	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs528160901	chr12:29936499-29936500	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
22	rs76424334	chr12:29936501-29936502	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
23	rs184221	chr12:29936613-29936614	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs654825	chr12:29936626-29936627	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs530280235	chr12:29936778-29936779	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs548384545	chr12:29936783-29936784	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs675740	chr12:29936800-29936801	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs531156556	chr12:29936896-29936897	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs186216	chr12:29936914-29936915	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs188294017	chr12:29936922-29936923	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs534730391	chr12:29936932-29936933	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs547035926	chr12:29936977-29936978	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
33	rs568469335	chr12:29936986-29936987	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
34	rs557238682	chr12:29936993-29936994	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
35	rs575598247	chr12:29937016-29937017	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
36	rs539780567	chr12:29937019-29937020	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
37	rs111793407	chr12:29937051-29937052	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs111649474	chr12:29937056-29937057	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs557767090	chr12:29937072-29937073	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs373609528	chr12:29937085-29937086	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs56703053	chr12:29937192-29937193	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs75540986	chr12:29937195-29937196	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
43	rs561783408	chr12:29937199-29937200	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
44	rs573656980	chr12:29937256-29937257	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs61922589	chr12:29937302-29937303	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs543361236	chr12:29937331-29937332	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs563581031	chr12:29937396-29937397	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs368930531	chr12:29937470-29937471	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs531086516	chr12:29937481-29937482	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs552423320	chr12:29937497-29937498	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
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
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	17133270	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:239 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29933000-29937800	Active TSS	Aorta	Aorta
2	chr12:29933800-29937800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:29934000-29936400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr12:29934000-29937800	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr12:29934000-29937800	Active TSS	Fetal Kidney	kidney
6	chr12:29934000-29937800	Active TSS	NHLF	lung
7	chr12:29934000-29938000	Active TSS	Right Ventricle	heart
8	chr12:29934200-29935800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:29934200-29937400	Active TSS	Lung	lung
10	chr12:29934200-29937600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
11	chr12:29934200-29937600	Active TSS	Rectal Smooth Muscle	rectum
12	chr12:29934200-29937800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:29934400-29936400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
14	chr12:29934400-29937600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:29934400-29937600	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr12:29934400-29937600	Bivalent/Poised TSS	Thymus	Thymus
17	chr12:29934400-29937800	Active TSS	Brain Anterior Caudate	brain
18	chr12:29934400-29937800	Active TSS	Brain Hippocampus Middle	brain
19	chr12:29934400-29937800	Active TSS	Fetal Brain Female	brain
20	chr12:29934600-29936600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:29934600-29937400	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr12:29934600-29937800	Active TSS	Right Atrium	heart
23	chr12:29934600-29937800	Active TSS	Stomach Smooth Muscle	stomach
24	chr12:29934800-29936600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:29934800-29937400	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr12:29934800-29937400	Bivalent/Poised TSS	NHEK	skin
27	chr12:29934800-29937600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr12:29934800-29937600	Active TSS	Brain Cingulate Gyrus	brain
29	chr12:29934800-29937600	Active TSS	Brain Substantia Nigra	brain
30	chr12:29934800-29937800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:29934800-29937800	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr12:29934800-29937800	Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr12:29934800-29937800	Active TSS	Left Ventricle	heart
34	chr12:29934800-29937800	Active TSS	Ovary	ovary
35	chr12:29934800-29937800	Active TSS	Psoas Muscle	Psoas
36	chr12:29934800-29937800	Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr12:29934800-29937800	Active TSS	HSMM	muscle
38	chr12:29935000-29936400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
39	chr12:29935000-29936400	Active TSS	GM12878-XiMat	blood
40	chr12:29935000-29937200	Active TSS	Primary monocytes fromperipheralblood	blood
41	chr12:29935000-29937400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr12:29935000-29937400	Active TSS	HMEC	breast
43	chr12:29935000-29937800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr12:29935000-29937800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:29935000-29937800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr12:29935000-29937800	Active TSS	Brain Angular Gyrus	brain
47	chr12:29935000-29937800	Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr12:29935000-29937800	Active TSS	Hela-S3	cervix
49	chr12:29935000-29937800	Active TSS	HSMMtube	muscle
50	chr12:29935200-29935800	Bivalent Enhancer	Fetal Lung	lung

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