Variant report

Variant	esv10544
Chromosome Location	chr12:57331527-57352203
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:345)
CpG islands
(count:366)
Chromatin interactive
region (count:41)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:345 , 50 per page) page: 1 2 3 4 5 6 7

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	BACH1	chr12:57335314-57335674	K562	blood:	n/a	n/a
3	BATF	chr12:57335428-57335611	GM12878	blood:	n/a	chr12:57335532-57335543
4	BATF	chr12:57335348-57335706	GM12878	blood:	n/a	chr12:57335532-57335543
5	CBX3	chr12:57337230-57337416	K562	blood:	n/a	n/a
6	CBX3	chr12:57337124-57337565	K562	blood:	n/a	n/a
7	CBX3	chr12:57352149-57352446	K562	blood:	n/a	n/a
8	CEBPB	chr12:57349459-57349683	HepG2	liver:	n/a	n/a
9	CEBPB	chr12:57349414-57349774	HepG2	liver:	n/a	n/a
10	CEBPB	chr12:57344148-57344348	A549	lung:	n/a	n/a
11	CEBPB	chr12:57349434-57349654	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr12:57335437-57335773	HepG2	liver:	n/a	n/a
13	CEBPB	chr12:57349466-57349757	K562	blood:	n/a	n/a
14	CEBPB	chr12:57341747-57341956	HepG2	liver:	n/a	n/a
15	CEBPB	chr12:57349395-57349785	A549	lung:	n/a	n/a
16	CEBPB	chr12:57349426-57349758	IMR90	lung:	n/a	n/a
17	CEBPB	chr12:57349345-57349760	HepG2	liver:	n/a	n/a
18	CEBPB	chr12:57349377-57349777	A549	lung:	n/a	n/a
19	CEBPB	chr12:57344131-57344381	MCF-7	breast:	n/a	n/a
20	CEBPB	chr12:57344063-57344363	HepG2	liver:	n/a	n/a
21	CEBPB	chr12:57344105-57344290	K562	blood:	n/a	n/a
22	CEBPB	chr12:57335495-57335737	HepG2	liver:	n/a	n/a
23	CEBPB	chr12:57349273-57349896	A549	lung:	n/a	chr12:57349277-57349289
24	CEBPB	chr12:57349354-57349829	MCF-7	breast:	n/a	n/a
25	CEBPB	chr12:57349413-57349754	Hela-S3	cervix:	n/a	n/a
26	CEBPD	chr12:57335484-57335715	HepG2	liver:	n/a	n/a
27	CEBPD	chr12:57335487-57335862	HepG2	liver:	n/a	n/a
28	CEBPZ	chr12:57349503-57349558	HepG2	liver:	n/a	n/a
29	CEBPZ	chr12:57335613-57335694	HepG2	liver:	n/a	n/a
30	CHD2	chr12:57335484-57335763	HepG2	liver:	n/a	n/a
31	CREB1	chr12:57335061-57335390	A549	lung:	n/a	n/a
32	CTCF	chr12:57341362-57341825	A549	lung:	n/a	n/a
33	CTCF	chr12:57333829-57333847	GM10266	blood:	n/a	n/a
34	CTCF	chr12:57335220-57335370	HEEpiC	esophagus:	n/a	chr12:57335245-57335263
35	CTCF	chr12:57341540-57341690	HMEC	breast:	n/a	n/a
36	CTCF	chr12:57341392-57341705	A549	lung:	n/a	n/a
37	CTCF	chr12:57341572-57341657	Spleen_OC	spleen:	n/a	n/a
38	CTCF	chr12:57341500-57341650	HVMF	connective:	n/a	n/a
39	CTCF	chr12:57351240-57351390	HMEC	breast:	n/a	n/a
40	CTCF	chr12:57351159-57351294	MCF-7	breast:	n/a	n/a
41	CTCF	chr12:57351140-57351290	NHEK	skin:	n/a	n/a
42	CTCF	chr12:57332723-57332793	LNCaP	prostate:	n/a	n/a
43	CTCF	chr12:57341520-57341756	A549	lung:	n/a	n/a
44	CTCF	chr12:57341477-57341673	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr12:57341543-57341657	Gliobla	brain:	n/a	n/a
46	CTCF	chr12:57351220-57351370	SAEC	small airway:	n/a	n/a
47	CTCF	chr12:57341500-57341650	GM12868	blood:	n/a	n/a
48	CTCF	chr12:57341520-57341670	Caco-2	colon:	n/a	n/a
49	CTCF	chr12:57341646-57341649	GM13977	blood:	n/a	n/a
50	CTCF	chr12:57341520-57341695	GM12878	blood:	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	chr12:57351191-57351241	NHBE	bronchial:	n/a
2	chr12:57345407-57345457	SK-N-MC	brain:	n/a
3	chr12:57345934-57345984	SK-N-SH	brain:	n/a
4	chr12:57335615-57335665	NB4	blood:	n/a
5	chr12:57345934-57345984	NHBE	bronchial:	n/a
6	chr12:57351856-57351906	HCPEpiC	choroid plexus:	n/a
7	chr12:57351191-57351241	SK-N-SH_RA	brain:	n/a
8	chr12:57335615-57335665	NHBE	bronchial:	n/a
9	chr12:57345407-57345457	RPTEC	kidney:	n/a
10	chr12:57351732-57351782	HRCEpiC	kidney:	n/a
11	chr12:57345407-57345457	AG09319	gingival:	n/a
12	chr12:57345407-57345457	HCT-116	colon:	n/a
13	chr12:57351856-57351906	HRE	kidney:	n/a
14	chr12:57345934-57345984	HUVEC	blood vessel:	n/a
15	chr12:57345407-57345457	HCM	heart:	n/a
16	chr12:57335615-57335665	ovcar-3	ovarian:	n/a
17	chr12:57335615-57335665	HNPCEpiC	eye:	n/a
18	chr12:57351856-57351906	HNPCEpiC	eye:	n/a
19	chr12:57345407-57345457	SK-N-SH	brain:	n/a
20	chr12:57345407-57345457	K562	blood:	n/a
21	chr12:57351732-57351782	GM12878	blood:	n/a
22	chr12:57335615-57335665	ProgFib	skin:	n/a
23	chr12:57335615-57335665	PrEC	prostate:	n/a
24	chr12:57351856-57351906	CMK	blood:	n/a
25	chr12:57351732-57351782	IMR90	lung:	fetal
26	chr12:57345934-57345984	HCF	heart:	n/a
27	chr12:57345407-57345457	HL-60	blood:	n/a
28	chr12:57345934-57345984	T-47D	breast:	n/a
29	chr12:57335615-57335665	PFSK-1	brain:	n/a
30	chr12:57351732-57351782	MCF-7	breast:	n/a
31	chr12:57345934-57345984	HepG2	liver:	n/a
32	chr12:57351732-57351782	CMK	blood:	n/a
33	chr12:57345934-57345984	AG10803	skin:	n/a
34	chr12:57345934-57345984	AG04450	lung:	fetal
35	chr12:57351732-57351782	NHBE	bronchial:	n/a
36	chr12:57351732-57351782	AG04449	skin:	fetal
37	chr12:57351732-57351782	HepG2	liver:	n/a
38	chr12:57351856-57351906	AG04449	skin:	fetal
39	chr12:57335615-57335665	GM12892	blood:	n/a
40	chr12:57345934-57345984	ProgFib	skin:	n/a
41	chr12:57351732-57351782	HNPCEpiC	eye:	n/a
42	chr12:57345407-57345457	U87	brain:	n/a
43	chr12:57351732-57351782	HRPEpiC	eye:	n/a
44	chr12:57351856-57351906	MCF10A-Er-Src	breast:	n/a
45	chr12:57351732-57351782	BE2_C	brain:	n/a
46	chr12:57351856-57351906	Caco-2	colon:	n/a
47	chr12:57345934-57345984	SK-N-MC	brain:	n/a
48	chr12:57345407-57345457	ProgFib	skin:	n/a
49	chr12:57351191-57351241	HRE	kidney:	n/a
50	chr12:57351732-57351782	HPAEpiC	pulmonary alveolar:	n/a

(count:41 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57328840..57330584-chr12:57335451..57337263,2	MCF-7	breast:
2	chr12:57347121..57349496-chr12:57383085..57384758,2	MCF-7	breast:
3	chr12:57326673..57329540-chr12:57347284..57349028,2	MCF-7	breast:
4	chr12:57323485..57328382-chr12:57328704..57333004,6	K562	blood:
5	chr12:57351085..57351674-chr12:57381073..57381575,2	MCF-7	breast:
6	chr12:57341072..57342721-chr12:57384674..57386261,2	K562	blood:
7	chr12:57319872..57321581-chr12:57347777..57350711,2	MCF-7	breast:
8	chr12:57340605..57343794-chr12:57388280..57390645,3	MCF-7	breast:
9	chr12:57319841..57322040-chr12:57335776..57337907,3	MCF-7	breast:
10	chr12:57338428..57340285-chr12:57349754..57351660,2	MCF-7	breast:
11	chr12:57330845..57332526-chr12:57336068..57338551,2	MCF-7	breast:
12	chr12:57325090..57327714-chr12:57331602..57333568,3	MCF-7	breast:
13	chr12:57342671..57345733-chr12:57481207..57484376,3	MCF-7	breast:
14	chr12:57325236..57327206-chr12:57341575..57344080,3	MCF-7	breast:
15	chr12:57327126..57329472-chr12:57342749..57346552,3	MCF-7	breast:
16	chr12:57081337..57084055-chr12:57347595..57351157,3	MCF-7	breast:
17	chr12:57327918..57330814-chr12:57348513..57351502,2	MCF-7	breast:
18	chr12:57333897..57335886-chr12:57347612..57349669,2	MCF-7	breast:
19	chr12:57322265..57324003-chr12:57330480..57332983,2	MCF-7	breast:
20	chr12:57349736..57351385-chr12:57380003..57382609,2	MCF-7	breast:
21	chr12:57325326..57326887-chr12:57330449..57332916,2	K562	blood:
22	chr12:57338428..57340285-chr12:57349754..57351660,2	MCF-7	breast:
23	chr12:57211985..57213673-chr12:57349961..57351583,2	MCF-7	breast:
24	chr12:57324104..57327319-chr12:57348172..57351129,3	MCF-7	breast:
25	chr12:57233379..57233935-chr12:57351193..57351985,2	MCF-7	breast:
26	chr12:57347630..57349531-chr12:57349740..57351878,2	MCF-7	breast:
27	chr12:57341567..57342147-chr12:57381088..57381948,3	MCF-7	breast:
28	chr12:57347827..57349628-chr12:57379616..57381539,3	MCF-7	breast:
29	chr12:57349108..57350665-chr12:57479276..57481586,2	MCF-7	breast:
30	chr12:57341397..57342171-chr12:57399982..57400550,2	MCF-7	breast:
31	chr12:57345020..57348622-chr12:57399414..57401826,4	MCF-7	breast:
32	chr12:57341090..57342031-chr12:57380872..57381968,6	MCF-7	breast:
33	chr12:57330845..57332526-chr12:57336068..57338551,2	MCF-7	breast:
34	chr12:57321673..57323369-chr12:57347515..57349644,2	MCF-7	breast:
35	chr12:57347630..57349531-chr12:57349740..57351878,2	MCF-7	breast:
36	chr12:57347864..57350577-chr12:57381566..57383920,2	MCF-7	breast:
37	chr12:57327540..57330418-chr12:57347371..57350395,3	K562	blood:
38	chr12:57350025..57351752-chr12:57359432..57361772,2	MCF-7	breast:
39	chr12:57326942..57329124-chr12:57333812..57335374,2	MCF-7	breast:
40	chr12:57326664..57330911-chr12:57334392..57337503,4	K562	blood:
41	chr12:57333897..57335886-chr12:57347612..57349669,2	MCF-7	breast:

No data

Variant related genes	Relation type
SDR9C7	TF binding region
RDH16	TF binding region
SDR9C7	CpG island
RDH16	CpG island
ENSG00000258442	chromatin interactions
ENSG00000166886	chromatin interactions
ENSG00000166881	chromatin interactions
ENSG00000166860	chromatin interactions
ENSG00000170426	chromatin interactions
ENSG00000110958	chromatin interactions

Extended variants
information (count: 811 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:811 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560797617	chr12:57331541-57331542	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs180757305	chr12:57331545-57331546	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs184534421	chr12:57331576-57331577	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs11172072	chr12:57331591-57331592	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs532412246	chr12:57331592-57331593	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs10876958	chr12:57331596-57331597	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs10876959	chr12:57331598-57331599	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs527826625	chr12:57331611-57331612	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs549458538	chr12:57331623-57331624	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs113276409	chr12:57331624-57331625	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs538455056	chr12:57331645-57331646	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs181374661	chr12:57331668-57331669	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs73330514	chr12:57331685-57331686	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs539304460	chr12:57331687-57331688	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs564908814	chr12:57331702-57331703	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs76538498	chr12:57331704-57331705	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs725957	chr12:57331741-57331742	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs542214909	chr12:57331761-57331762	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs78975029	chr12:57331767-57331768	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs575699799	chr12:57331795-57331796	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs543240253	chr12:57331797-57331798	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs185873290	chr12:57331798-57331799	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs375991667	chr12:57331816-57331817	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs532342663	chr12:57331818-57331819	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs190589293	chr12:57331877-57331878	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs372461525	chr12:57331892-57331893	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs181718050	chr12:57331908-57331909	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs138568192	chr12:57331919-57331920	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs549362641	chr12:57331923-57331924	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs725956	chr12:57331936-57331937	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs531818795	chr12:57331997-57331998	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs550432457	chr12:57332116-57332117	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs2629411	chr12:57332119-57332120	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs539010624	chr12:57332141-57332142	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs725958	chr12:57332158-57332159	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs11829786	chr12:57332232-57332233	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs566204811	chr12:57332245-57332246	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs372921009	chr12:57332258-57332259	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs554118494	chr12:57332272-57332273	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs575763710	chr12:57332275-57332276	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs71459395	chr12:57332289-57332290	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs148806077	chr12:57332326-57332327	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs61939618	chr12:57332357-57332358	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs558375533	chr12:57332404-57332405	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs576968822	chr12:57332490-57332491	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs540827471	chr12:57332524-57332525	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs571218837	chr12:57332559-57332560	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs559614574	chr12:57332627-57332628	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs369358548	chr12:57332629-57332630	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs574615066	chr12:57332634-57332635	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:190 , 50 per page) page: 1 2 3 4

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	chr12:57333200-57333800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:57333200-57333800	Enhancers	HepG2	liver
13	chr12:57333800-57335000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:57333800-57335000	Weak transcription	HepG2	liver
15	chr12:57334600-57336400	Enhancers	HMEC	breast
16	chr12:57335000-57335200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:57335000-57335200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:57335000-57335200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr12:57335000-57335200	Enhancers	HepG2	liver
20	chr12:57335000-57335200	Enhancers	NHEK	skin
21	chr12:57335000-57335600	Enhancers	GM12878-XiMat	blood
22	chr12:57335000-57336200	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr12:57335000-57336400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:57335000-57336400	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr12:57335000-57336400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:57335000-57336400	Enhancers	HSMM	muscle
27	chr12:57335000-57337200	Enhancers	Liver	Liver
28	chr12:57335200-57335400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:57335200-57335400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr12:57335200-57335400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:57335200-57335400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:57335200-57335400	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr12:57335200-57335600	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr12:57335200-57335600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr12:57335200-57335600	Enhancers	Duodenum Mucosa	Duodenum
36	chr12:57335200-57335800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr12:57335200-57335800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:57335200-57335800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr12:57335200-57335800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr12:57335200-57335800	Enhancers	Right Atrium	heart
41	chr12:57335200-57335800	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr12:57335200-57335800	Flanking Active TSS	Hela-S3	cervix
43	chr12:57335200-57335800	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr12:57335200-57335800	Flanking Active TSS	NHEK	skin
45	chr12:57335200-57336000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:57335200-57336000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:57335200-57336000	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr12:57335200-57336000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr12:57335200-57336000	Enhancers	Adipose Nuclei	Adipose
50	chr12:57335200-57336000	Enhancers	Brain Inferior Temporal Lobe	brain

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