Variant report

Variant	esv2422264
Chromosome Location	chr12:31103190-31345995
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3169)
CpG islands
(count:2320)
Chromatin interactive
region (count:42)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3169 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:31227278-31227505	K562	blood:	n/a	n/a
2	ARID3A	chr12:31226612-31226780	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:31227121-31227652	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:31205625-31205628	HepG2	liver:	n/a	n/a
5	ATF1	chr12:31267437-31267611	K562	blood:	n/a	n/a
6	ATF1	chr12:31230204-31230267	K562	blood:	n/a	n/a
7	ATF1	chr12:31219201-31219422	K562	blood:	n/a	n/a
8	ATF2	chr12:31270089-31270375	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF3	chr12:31226662-31226898	K562	blood:	n/a	n/a
10	BACH1	chr12:31226535-31226812	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr12:31182528-31182802	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr12:31270094-31270475	H1-hESC	embryonic stem cell:	n/a	n/a
13	BATF	chr12:31226544-31227607	GM12878	blood:	n/a	n/a
14	BATF	chr12:31233397-31233563	GM12878	blood:	n/a	n/a
15	BATF	chr12:31233393-31233591	GM12878	blood:	n/a	n/a
16	BATF	chr12:31345648-31345920	GM12878	blood:	n/a	n/a
17	BATF	chr12:31253312-31253563	GM12878	blood:	n/a	n/a
18	BATF	chr12:31200609-31200914	GM12878	blood:	n/a	chr12:31200777-31200788
19	BATF	chr12:31204619-31204884	GM12878	blood:	n/a	n/a
20	BATF	chr12:31228050-31228506	GM12878	blood:	n/a	chr12:31228339-31228347
21	BATF	chr12:31200617-31200912	GM12878	blood:	n/a	chr12:31200777-31200788
22	BATF	chr12:31227825-31228526	GM12878	blood:	n/a	chr12:31228339-31228347
23	BCL11A	chr12:31228135-31228506	GM12878	blood:	n/a	n/a
24	BCL11A	chr12:31226719-31227117	GM12878	blood:	n/a	chr12:31226785-31226794 chr12:31227056-31227065
25	BCL11A	chr12:31228004-31228492	GM12878	blood:	n/a	n/a
26	BCL11A	chr12:31227467-31227641	GM12878	blood:	n/a	chr12:31227476-31227485 chr12:31227507-31227514
27	BCL11A	chr12:31227413-31227974	GM12878	blood:	n/a	chr12:31227476-31227485 chr12:31227507-31227514
28	BCL11A	chr12:31133143-31133385	GM12878	blood:	n/a	n/a
29	BCL11A	chr12:31226764-31227047	GM12878	blood:	n/a	chr12:31226785-31226794
30	BCL3	chr12:31236196-31236433	GM12878	blood:	n/a	n/a
31	BCL3	chr12:31236203-31236417	GM12878	blood:	n/a	n/a
32	BHLHE40	chr12:31219222-31219531	K562	blood:	n/a	n/a
33	BHLHE40	chr12:31226599-31226889	GM12878	blood:	n/a	n/a
34	BHLHE40	chr12:31227101-31227187	GM12878	blood:	n/a	n/a
35	BHLHE40	chr12:31143178-31143220	A549	lung:	n/a	n/a
36	BHLHE40	chr12:31270186-31270438	K562	blood:	n/a	n/a
37	BHLHE40	chr12:31333006-31333037	GM12878	blood:	n/a	n/a
38	BHLHE40	chr12:31204659-31204964	GM12878	blood:	n/a	n/a
39	BHLHE40	chr12:31203581-31203781	K562	blood:	n/a	n/a
40	BHLHE40	chr12:31138858-31138979	K562	blood:	n/a	n/a
41	BHLHE40	chr12:31253866-31254071	GM12878	blood:	n/a	n/a
42	BHLHE40	chr12:31227096-31227339	K562	blood:	n/a	chr12:31227176-31227192
43	BHLHE40	chr12:31226533-31226888	K562	blood:	n/a	n/a
44	BHLHE40	chr12:31165039-31165126	K562	blood:	n/a	n/a
45	BHLHE40	chr12:31270127-31270331	GM12878	blood:	n/a	n/a
46	BHLHE40	chr12:31253434-31253625	GM12878	blood:	n/a	n/a
47	BHLHE40	chr12:31252507-31252676	GM12878	blood:	n/a	n/a
48	BRCA1	chr12:31226555-31227323	Hela-S3	cervix:	n/a	n/a
49	BRCA1	chr12:31226630-31226830	GM12878	blood:	n/a	n/a
50	BRCA1	chr12:31270178-31270208	GM12878	blood:	n/a	n/a

(count:2320 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:31271783-31271833	AG04449	skin:	fetal
2	chr12:31272112-31272162	SK-N-SH_RA	brain:	n/a
3	chr12:31271783-31271833	AG04449	skin:	fetal
4	chr12:31272112-31272162	SK-N-SH_RA	brain:	n/a
5	chr12:31272114-31272164	AG09309	skin:	n/a
6	chr12:31271783-31271833	AG09309	skin:	n/a
7	chr12:31316348-31316398	HRCEpiC	kidney:	n/a
8	chr12:31271783-31271833	HRE	kidney:	n/a
9	chr12:31224413-31224463	HepG2	liver:	n/a
10	chr12:31272865-31272915	HRPEpiC	eye:	n/a
11	chr12:31316348-31316398	HepG2	liver:	n/a
12	chr12:31271783-31271833	GM12892	blood:	n/a
13	chr12:31272865-31272915	Jurkat	blood:	n/a
14	chr12:31254036-31254086	SKMC	muscle:	n/a
15	chr12:31272865-31272915	SKMC	muscle:	n/a
16	chr12:31189289-31189339	HRE	kidney:	n/a
17	chr12:31241496-31241546	A549	lung:	n/a
18	chr12:31227271-31227321	HUVEC	blood vessel:	n/a
19	chr12:31156691-31156741	HAEpiC	amniotic membrane:	n/a
20	chr12:31254036-31254086	NH-A	brain:	n/a
21	chr12:31156691-31156741	HRE	kidney:	n/a
22	chr12:31255279-31255329	Caco-2	colon:	n/a
23	chr12:31274424-31274474	H1-hESC	embryonic stem cell:	embryo
24	chr12:31226825-31226875	HPAEpiC	pulmonary alveolar:	n/a
25	chr12:31226801-31226851	HCT-116	colon:	n/a
26	chr12:31272119-31272169	BE2_C	brain:	n/a
27	chr12:31254036-31254086	A549	lung:	n/a
28	chr12:31257362-31257412	NB4	blood:	n/a
29	chr12:31257362-31257412	BJ	skin:	n/a
30	chr12:31226441-31226491	SK-N-MC	brain:	n/a
31	chr12:31257362-31257412	AG10803	skin:	n/a
32	chr12:31255279-31255329	SK-N-SH_RA	brain:	n/a
33	chr12:31118985-31119035	HepG2	liver:	n/a
34	chr12:31272865-31272915	HEEpiC	esophagus:	n/a
35	chr12:31138958-31139008	NHDF-neo	bronchial:	n/a
36	chr12:31316348-31316398	HUVEC	blood vessel:	n/a
37	chr12:31233201-31233251	PrEC	prostate:	n/a
38	chr12:31226441-31226491	GM06990	blood:	n/a
39	chr12:31226632-31226682	ovcar-3	ovarian:	n/a
40	chr12:31272112-31272162	T-47D	breast:	n/a
41	chr12:31226714-31226764	PFSK-1	brain:	n/a
42	chr12:31149418-31149468	GM12878	blood:	n/a
43	chr12:31230936-31230986	GM19239	blood:	n/a
44	chr12:31226632-31226682	SK-N-SH	brain:	n/a
45	chr12:31254007-31254057	MCF10A-Er-Src	breast:	n/a
46	chr12:31226825-31226875	CMK	blood:	n/a
47	chr12:31256838-31256888	H1-hESC	embryonic stem cell:	embryo
48	chr12:31226606-31226656	MCF10A-Er-Src	breast:	n/a
49	chr12:31226718-31226768	AG09319	gingival:	n/a
50	chr12:31226441-31226491	K562	blood:	n/a

(count:42 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:31105834..31108432-chr12:31108761..31111175,2	K562	blood:
2	chr12:30999859..31000781-chr12:31142534..31143349,2	K562	blood:
3	chr12:31121879..31124648-chr12:31129528..31132087,2	K562	blood:
4	chr12:31159465..31161712-chr12:31163343..31166025,2	K562	blood:
5	chr12:31113324..31114881-chr12:31120140..31121725,2	K562	blood:
6	chr12:31116301..31118839-chr12:31122102..31125851,3	K562	blood:
7	chr12:31116301..31118839-chr12:31122102..31125851,3	K562	blood:
8	chr12:31191870..31193698-chr12:31194648..31196462,2	K562	blood:
9	chr12:31114199..31115183-chr12:31138028..31138949,2	MCF-7	breast:
10	chr12:31173555..31175653-chr12:31188660..31191059,2	MCF-7	breast:
11	chr12:31108040..31110070-chr12:31110418..31112146,2	K562	blood:
12	chr12:31105834..31108432-chr12:31108761..31111175,2	K562	blood:
13	chr12:31122291..31124648-chr12:31129528..31132132,2	K562	blood:
14	chr12:31003713..31004456-chr12:31138363..31139354,3	MCF-7	breast:
15	chr12:31118586..31119188-chr12:31138566..31139432,2	MCF-7	breast:
16	chr12:9620489..9621323-chr12:31206721..31207493,2	MCF-7	breast:
17	chr12:31226738..31227630-chr20:47894738..47895520,2	Hela-S3	cervix:
18	chr12:31114199..31115183-chr12:31138028..31138949,2	MCF-7	breast:
19	chr12:31048548..31050529-chr12:31126004..31127624,2	MCF-7	breast:
20	chr12:31190011..31191899-chr12:31193367..31195134,2	K562	blood:
21	chr12:31113324..31114881-chr12:31120140..31121725,2	K562	blood:
22	chr12:31190011..31191899-chr12:31193367..31195134,2	K562	blood:
23	chr12:31122020..31124643-chr12:31127496..31129096,2	K562	blood:
24	chr12:31173555..31175653-chr12:31188660..31191059,2	MCF-7	breast:
25	chr12:31118586..31119188-chr12:31138566..31139432,2	MCF-7	breast:
26	chr12:31082310..31084451-chr12:31104159..31107270,3	MCF-7	breast:
27	chr12:9436173..9436735-chr12:31226434..31227168,3	Hela-S3	cervix:
28	chr12:31191870..31193698-chr12:31194648..31196462,2	K562	blood:
29	chr12:31112508..31114318-chr12:31114721..31117661,2	K562	blood:
30	chr12:9620209..9621328-chr12:31206996..31207808,4	MCF-7	breast:
31	chr12:31226022..31227620-chr12:31260408..31262678,2	MCF-7	breast:
32	chr12:31118639..31119261-chr12:31138195..31139078,2	MCF-7	breast:
33	chr12:9435913..9436700-chr12:31226425..31227148,3	HCT-116	colon:
34	chr12:31149175..31150805-chr12:31151820..31154429,2	K562	blood:
35	chr12:31118639..31119261-chr12:31138195..31139078,2	MCF-7	breast:
36	chr12:31269688..31270486-chr12:31404974..31405959,2	K562	blood:
37	chr12:31108040..31110070-chr12:31110418..31112146,2	K562	blood:
38	chr12:31121879..31124648-chr12:31129528..31132087,2	K562	blood:
39	chr12:31112508..31114318-chr12:31114721..31117661,2	K562	blood:
40	chr12:31149175..31150805-chr12:31151820..31154429,2	K562	blood:
41	chr12:31122020..31124643-chr12:31127496..31129096,2	K562	blood:
42	chr12:31122291..31124648-chr12:31129528..31132132,2	K562	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM60A-6	chr12:31270354-31270558	NONHSAT140066
2	lnc-FAM60A-7	chr12:31265915-31266017	NONHSAT027538
3	lnc-FAM60A-7	chr12:31267330-31267397	NONHSAT027538
4	lnc-FAM60A-1	chr12:31213594-31213684	ENSG00000245614
5	lnc-FAM60A-6	chr12:31269291-31269403	NONHSAT140066
6	lnc-FAM60A-7	chr12:31264627-31264743	NONHSAT027538
7	lnc-CAPRIN2-6	chr12:31117396-31117961	ucscGeneNc_uc001rjq_1
8	lnc-FAM60A-1	chr12:31203850-31204329	ENSG00000245614
9	lnc-CAPRIN2-6	chr12:31104861-31104971	ucscGeneNc_uc001rjq_1

No data

Variant related genes	Relation type
DDX11-AS1	TF binding region
ENSG00000226472	TF binding region
ENSG00000177359	TF binding region
ENSG00000270926	TF binding region
ENSG00000212533	TF binding region
ENSG00000256984	TF binding region
DDX11	TF binding region
DDX11-AS1	CpG island
ENSG00000226472	CpG island
ENSG00000177359	CpG island
ENSG00000270926	CpG island
ENSG00000212533	CpG island
ENSG00000256984	CpG island
DDX11	CpG island
ENSG00000209042	chromatin interactions
ENSG00000243517	chromatin interactions
ENSG00000177410	chromatin interactions
ENSG00000013573	chromatin interactions
ENSG00000245614	chromatin interactions
ENSG00000111788	chromatin interactions
ENSG00000256984	chromatin interactions
ENSG00000124201	chromatin interactions
ANKRD29	miRNA target sites
TBC1D9	miRNA target sites

Extended variants
information (count: 8033 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:8033 , 50 per page) page: 1 2 3 4 5 6 7 ... 161

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545191531	chr12:31103210-31103211	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560671832	chr12:31103260-31103261	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527800144	chr12:31103262-31103263	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140444563	chr12:31103286-31103287	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143442811	chr12:31103304-31103305	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188808260	chr12:31103332-31103333	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs77323305	chr12:31103333-31103334	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11051180	chr12:31103360-31103361	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114990190	chr12:31103384-31103385	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370208371	chr12:31103441-31103442	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547258519	chr12:31103487-31103488	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140768247	chr12:31103506-31103507	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150117956	chr12:31103596-31103597	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181139883	chr12:31103607-31103608	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs199625773	chr12:31103712-31103713	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138441538	chr12:31103774-31103775	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536638137	chr12:31103849-31103850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571243669	chr12:31103850-31103851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183876258	chr12:31103918-31103919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577893743	chr12:31103935-31103936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545264947	chr12:31103948-31103949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574188779	chr12:31103949-31103950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7311000	chr12:31103962-31103963	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs572557366	chr12:31103980-31103981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542767212	chr12:31103993-31103994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376521523	chr12:31104000-31104001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188105399	chr12:31104020-31104021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75190846	chr12:31104022-31104023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs59544024	chr12:31104023-31104024	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs565213909	chr12:31104040-31104041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532463375	chr12:31104042-31104043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572379071	chr12:31104044-31104045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144016711	chr12:31104074-31104075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565740585	chr12:31104110-31104111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147316754	chr12:31104123-31104124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536402463	chr12:31104190-31104191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548018698	chr12:31104196-31104197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs55741420	chr12:31104203-31104204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78833827	chr12:31104212-31104213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558148211	chr12:31104213-31104214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368727083	chr12:31104270-31104271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs61916735	chr12:31104376-31104377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538952351	chr12:31104397-31104398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144676799	chr12:31104439-31104440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572592849	chr12:31104457-31104458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs148518277	chr12:31104462-31104463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554794376	chr12:31104486-31104487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs576596112	chr12:31104487-31104488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564688229	chr12:31104519-31104520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543901072	chr12:31104520-31104521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
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
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Follicular lymphoma	18703704	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Sertoli-cell only syndrome	20877625	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Autism	21865298	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Williams Syndrome	20824207	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:3008 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31081000-31105200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:31088200-31106600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr12:31098800-31106400	Weak transcription	Brain Substantia Nigra	brain
4	chr12:31099200-31104800	Weak transcription	Brain Hippocampus Middle	brain
5	chr12:31099600-31105000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:31099600-31116800	Weak transcription	Fetal Stomach	stomach
7	chr12:31100000-31104400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr12:31100200-31111200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:31100800-31111200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:31101400-31105000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:31102800-31103800	ZNF genes & repeats	Fetal Brain Female	brain
12	chr12:31103000-31103800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:31103000-31106400	Weak transcription	Right Atrium	heart
14	chr12:31103200-31104600	Weak transcription	Thymus	Thymus
15	chr12:31103800-31106000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:31103800-31106400	Weak transcription	Fetal Brain Female	brain
17	chr12:31104400-31104600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr12:31104400-31105200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr12:31104600-31104800	Enhancers	Rectal Smooth Muscle	rectum
20	chr12:31104600-31105600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:31104600-31107800	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr12:31104600-31108200	Enhancers	Thymus	Thymus
23	chr12:31104800-31105000	Enhancers	Brain Hippocampus Middle	brain
24	chr12:31105000-31105200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr12:31105000-31105400	Enhancers	Fetal Muscle Leg	muscle
26	chr12:31105000-31105800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:31105000-31105800	Weak transcription	Brain Hippocampus Middle	brain
28	chr12:31105000-31106000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:31105000-31106200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr12:31105000-31106800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:31105000-31108200	Enhancers	Fetal Thymus	thymus
32	chr12:31105200-31105800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr12:31105200-31108200	Enhancers	Fetal Heart	heart
34	chr12:31105800-31108200	Enhancers	Brain Angular Gyrus	brain
35	chr12:31105800-31108200	Enhancers	Brain Cingulate Gyrus	brain
36	chr12:31105800-31108200	Enhancers	Brain Hippocampus Middle	brain
37	chr12:31105800-31112200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr12:31105800-31116000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr12:31106000-31106600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:31106000-31106600	Enhancers	GM12878-XiMat	blood
41	chr12:31106000-31106800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr12:31106000-31107000	Enhancers	HMEC	breast
43	chr12:31106000-31111600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr12:31106000-31120000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:31106200-31106600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr12:31106200-31108200	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr12:31106200-31108200	Enhancers	Rectal Smooth Muscle	rectum
48	chr12:31106400-31106800	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr12:31106400-31107000	Enhancers	Right Atrium	heart
50	chr12:31106400-31108000	Enhancers	Brain Anterior Caudate	brain

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