Variant report

Variant	esv3426833
Chromosome Location	chr2:148600907-148603455
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:560)
CpG islands
(count:796)
Chromatin interactive
region (count:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:560 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:148602016-148602616	HepG2	liver:	n/a	n/a
2	ATF2	chr2:148602905-148603349	GM12878	blood:	n/a	n/a
3	BACH1	chr2:148601138-148601830	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCLAF1	chr2:148602259-148602580	GM12878	blood:	n/a	chr2:148602326-148602339 chr2:148602333-148602346 chr2:148602338-148602347 chr2:148602332-148602345 chr2:148602335-148602348
5	BHLHE40	chr2:148601781-148602517	GM12878	blood:	n/a	chr2:148602332-148602348
6	BHLHE40	chr2:148601215-148602577	K562	blood:	n/a	chr2:148602332-148602348
7	BHLHE40	chr2:148603078-148603424	K562	blood:	n/a	n/a
8	BHLHE40	chr2:148602872-148603366	GM12878	blood:	n/a	n/a
9	BHLHE40	chr2:148601287-148602095	HepG2	liver:	n/a	n/a
10	BRCA1	chr2:148601611-148601973	Hela-S3	cervix:	n/a	n/a
11	BRCA1	chr2:148602257-148602389	HepG2	liver:	n/a	n/a
12	BRCA1	chr2:148601619-148601983	H1-hESC	embryonic stem cell:	n/a	n/a
13	BRCA1	chr2:148601499-148601982	HepG2	liver:	n/a	n/a
14	BRCA1	chr2:148601642-148601913	GM12878	blood:	n/a	n/a
15	CBX3	chr2:148601281-148601634	K562	blood:	n/a	n/a
16	CBX3	chr2:148601719-148601971	K562	blood:	n/a	n/a
17	CBX3	chr2:148601974-148602153	K562	blood:	n/a	n/a
18	CCNT2	chr2:148601365-148602449	K562	blood:	n/a	n/a
19	CCNT2	chr2:148602660-148602968	K562	blood:	n/a	n/a
20	CEBPB	chr2:148602002-148602192	HepG2	liver:	n/a	n/a
21	CEBPB	chr2:148601358-148601859	HepG2	liver:	n/a	n/a
22	CEBPB	chr2:148601746-148601801	H1-hESC	embryonic stem cell:	n/a	n/a
23	CEBPD	chr2:148601324-148602384	HepG2	liver:	n/a	n/a
24	CHD1	chr2:148603112-148603462	GM12878	blood:	n/a	n/a
25	CHD1	chr2:148600890-148601723	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD1	chr2:148602278-148602696	GM12878	blood:	n/a	n/a
27	CHD1	chr2:148602312-148602834	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD2	chr2:148601057-148602106	H1-hESC	embryonic stem cell:	n/a	n/a
29	CHD2	chr2:148602654-148602819	Hela-S3	cervix:	n/a	n/a
30	CHD2	chr2:148601263-148602525	HepG2	liver:	n/a	n/a
31	CHD2	chr2:148601357-148602127	K562	blood:	n/a	n/a
32	CHD2	chr2:148601580-148602366	Hela-S3	cervix:	n/a	n/a
33	CHD2	chr2:148601379-148602400	GM12878	blood:	n/a	n/a
34	CHD2	chr2:148602961-148603175	GM12878	blood:	n/a	n/a
35	CREB1	chr2:148601291-148601951	A549	lung:	n/a	n/a
36	CREB1	chr2:148601983-148602265	A549	lung:	n/a	n/a
37	CREB1	chr2:148600993-148602539	HepG2	liver:	n/a	n/a
38	CTCF	chr2:148601460-148601610	AG09309	skin:	n/a	n/a
39	CTCF	chr2:148601414-148601665	GM12892	blood:	n/a	n/a
40	CTCF	chr2:148601500-148601650	NHDF-neo	bronchial:	n/a	n/a
41	CTCF	chr2:148601420-148601570	GM06990	blood:	n/a	n/a
42	CTCF	chr2:148601396-148601751	GM12878	blood:	n/a	n/a
43	CTCF	chr2:148601460-148601610	RPTEC	kidney:	n/a	n/a
44	CTCF	chr2:148601420-148601570	HUVEC	blood vessel:	n/a	n/a
45	CTCF	chr2:148601320-148601470	HVMF	connective:	n/a	n/a
46	CTCF	chr2:148601457-148601626	GM13977	blood:	n/a	n/a
47	CTCF	chr2:148601531-148601667	Kidney_OC	kidney:	n/a	n/a
48	CTCF	chr2:148601220-148601370	WI-38	lung:	n/a	n/a
49	CTCF	chr2:148601480-148601649	Pancreas_OC	pancreas:	n/a	n/a
50	CTCF	chr2:148601280-148601430	HAc	cerebellar:	n/a	n/a

(count:796 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:148602278-148602328	HepG2	liver:	n/a
2	chr2:148602504-148602554	SK-N-MC	brain:	n/a
3	chr2:148602625-148602675	NH-A	brain:	n/a
4	chr2:148602278-148602328	HepG2	liver:	n/a
5	chr2:148602504-148602554	SK-N-MC	brain:	n/a
6	chr2:148602625-148602675	NH-A	brain:	n/a
7	chr2:148602075-148602125	PrEC	prostate:	n/a
8	chr2:148602395-148602445	PFSK-1	brain:	n/a
9	chr2:148601095-148601145	HPAEpiC	pulmonary alveolar:	n/a
10	chr2:148601396-148601446	SK-N-SH_RA	brain:	n/a
11	chr2:148601396-148601446	HCT-116	colon:	n/a
12	chr2:148602278-148602328	AG10803	skin:	n/a
13	chr2:148602698-148602748	GM12892	blood:	n/a
14	chr2:148602278-148602328	HAEpiC	amniotic membrane:	n/a
15	chr2:148602278-148602328	HCT-116	colon:	n/a
16	chr2:148602819-148602869	PrEC	prostate:	n/a
17	chr2:148601396-148601446	Caco-2	colon:	n/a
18	chr2:148601396-148601446	ProgFib	skin:	n/a
19	chr2:148602504-148602554	MCF-7	breast:	n/a
20	chr2:148602399-148602449	HCM	heart:	n/a
21	chr2:148602993-148603043	GM19239	blood:	n/a
22	chr2:148602399-148602449	HEEpiC	esophagus:	n/a
23	chr2:148601095-148601145	HNPCEpiC	eye:	n/a
24	chr2:148602793-148602843	SK-N-MC	brain:	n/a
25	chr2:148601396-148601446	PANC-1	pancreas:	n/a
26	chr2:148602793-148602843	Hela-S3	cervix:	n/a
27	chr2:148602395-148602445	RPTEC	kidney:	n/a
28	chr2:148602278-148602328	HL-60	blood:	n/a
29	chr2:148602504-148602554	HCPEpiC	choroid plexus:	n/a
30	chr2:148602395-148602445	NT2-D1	testis:	n/a
31	chr2:148601095-148601145	AG04449	skin:	fetal
32	chr2:148601396-148601446	SK-N-SH	brain:	n/a
33	chr2:148601738-148601788	ovcar-3	ovarian:	n/a
34	chr2:148602793-148602843	GM12891	blood:	n/a
35	chr2:148602793-148602843	HUVEC	blood vessel:	n/a
36	chr2:148602504-148602554	GM12891	blood:	n/a
37	chr2:148602793-148602843	HCT-116	colon:	n/a
38	chr2:148602278-148602328	PFSK-1	brain:	n/a
39	chr2:148602698-148602748	H1-hESC	embryonic stem cell:	embryo
40	chr2:148601396-148601446	GM19239	blood:	n/a
41	chr2:148602395-148602445	SK-N-MC	brain:	n/a
42	chr2:148602278-148602328	AG09319	gingival:	n/a
43	chr2:148602698-148602748	BE2_C	brain:	n/a
44	chr2:148602278-148602328	Caco-2	colon:	n/a
45	chr2:148602278-148602328	HRE	kidney:	n/a
46	chr2:148602793-148602843	RPTEC	kidney:	n/a
47	chr2:148602819-148602869	ovcar-3	ovarian:	n/a
48	chr2:148602625-148602675	HL-60	blood:	n/a
49	chr2:148601095-148601145	HCT-116	colon:	n/a
50	chr2:148602278-148602328	RPTEC	kidney:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:148445172..148447218-chr2:148598842..148601029,2	MCF-7	breast:
2	chr2:148567317..148569523-chr2:148600689..148602415,2	MCF-7	breast:
3	chr2:148589254..148592247-chr2:148597949..148601498,4	K562	blood:
4	chr2:148601625..148602254-chr7:26239829..26240378,2	NB4	blood:
5	chr2:148600187..148601857-chr2:148665482..148668201,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACVR2A-4	chr2:148602086-148602275	NONHSAT074860
2	lnc-ORC4-2	chr2:148600791-148601664	NONHSAT074859

No data

Variant related genes	Relation type
ACVR2A	TF binding region
ACVR2A	CpG island
ENSG00000122566	chromatin interactions
ENSG00000229143	chromatin interactions

Extended variants
information (count: 84 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576453113	chr2:148600933-148600934	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
2	rs568730461	chr2:148600953-148600954	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs535784629	chr2:148600979-148600980	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs554162834	chr2:148600983-148600984	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs141425558	chr2:148600995-148600996	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs79619730	chr2:148601069-148601070	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
7	rs558268350	chr2:148601110-148601111	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
8	rs189980110	chr2:148601139-148601140	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs543593911	chr2:148601190-148601191	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
10	rs561742135	chr2:148601230-148601231	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs573831457	chr2:148601235-148601236	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs182002298	chr2:148601238-148601239	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs187659904	chr2:148601239-148601240	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs150814960	chr2:148601324-148601325	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs377119829	chr2:148601326-148601327	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs544630680	chr2:148601485-148601486	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
17	rs563396479	chr2:148601490-148601491	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
18	rs530563568	chr2:148601527-148601528	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
19	rs12691769	chr2:148601538-148601539	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs568564871	chr2:148601545-148601546	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
21	rs145945976	chr2:148601596-148601597	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
22	rs10221701	chr2:148601598-148601599	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
23	rs529585053	chr2:148601636-148601637	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
24	rs12053113	chr2:148601660-148601661	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs12052736	chr2:148601677-148601678	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs13023729	chr2:148601709-148601710	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs557905363	chr2:148601721-148601722	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs570091462	chr2:148601838-148601839	Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs537151670	chr2:148601852-148601853	Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs150877385	chr2:148601891-148601892	Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs139311081	chr2:148601896-148601897	Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs573768446	chr2:148601960-148601961	Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs549684943	chr2:148601978-148601979	Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs566122122	chr2:148601996-148601997	Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs552824104	chr2:148602016-148602017	Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs577565034	chr2:148602118-148602119	Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
37	rs544598042	chr2:148602120-148602121	Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
38	rs563149410	chr2:148602136-148602137	Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
39	rs530583273	chr2:148602196-148602197	Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
40	rs542380518	chr2:148602221-148602222	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
41	rs562275337	chr2:148602295-148602296	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs578072651	chr2:148602387-148602388	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs373202840	chr2:148602494-148602495	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs545045578	chr2:148602501-148602502	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs560653111	chr2:148602517-148602518	Active TSS Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
46	rs529495576	chr2:148602530-148602531	Active TSS Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
47	rs71430089	chr2:148602531-148602532	Active TSS Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
48	rs548038757	chr2:148602537-148602538	Active TSS Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
49	rs12474653	chr2:148602543-148602544	Active TSS Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
50	rs70992177	chr2:148602544-148602545	Active TSS Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	19904302	CNVD
Intellectual disability	19904302	CNVD
Microcephaly	19904302	CNVD
severe speech impairment	19904302	CNVD
Mental retardation	20152051	CNVD
2q23.1 microdeletion syndrome	18812405	CNVD
Mental retardation	19809484	CNVD
Autism	21981781	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:290 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148600400-148601000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:148600400-148601000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
3	chr2:148600400-148601000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:148600400-148601200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:148600400-148601200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
6	chr2:148600400-148601600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:148600400-148604400	Active TSS	Stomach Smooth Muscle	stomach
8	chr2:148600400-148606200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:148600600-148601000	Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr2:148600600-148601200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:148600600-148601200	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr2:148600600-148601200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:148600600-148601200	Flanking Active TSS	Brain Cingulate Gyrus	brain
14	chr2:148600600-148601200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr2:148600600-148601200	Flanking Active TSS	HMEC	breast
16	chr2:148600600-148601200	Flanking Active TSS	NHEK	skin
17	chr2:148600600-148603800	Active TSS	Brain Anterior Caudate	brain
18	chr2:148600600-148604600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:148600600-148604600	Active TSS	Fetal Brain Female	brain
20	chr2:148600600-148605800	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr2:148600600-148606200	Active TSS	HSMMtube	muscle
22	chr2:148600800-148601000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:148600800-148601000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:148600800-148601000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
25	chr2:148600800-148601000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
26	chr2:148600800-148601000	Bivalent Enhancer	Primary B cells from cord blood	blood
27	chr2:148600800-148601000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr2:148600800-148601000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr2:148600800-148601000	Enhancers	Brain Substantia Nigra	brain
30	chr2:148600800-148601000	Active TSS	Fetal Intestine Small	intestine
31	chr2:148600800-148601000	Enhancers	Placenta	Placenta
32	chr2:148600800-148601000	Flanking Active TSS	Rectal Smooth Muscle	rectum
33	chr2:148600800-148601000	Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr2:148600800-148601000	Enhancers	K562	blood
35	chr2:148600800-148601000	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
36	chr2:148600800-148601000	Bivalent Enhancer	Osteobl	bone
37	chr2:148600800-148601200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
38	chr2:148600800-148601200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr2:148600800-148601200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr2:148600800-148601200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:148600800-148601200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr2:148600800-148601200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr2:148600800-148601200	Flanking Active TSS	Brain Angular Gyrus	brain
44	chr2:148600800-148601200	Flanking Active TSS	Brain Germinal Matrix	brain
45	chr2:148600800-148601200	Flanking Active TSS	Brain Hippocampus Middle	brain
46	chr2:148600800-148601200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
47	chr2:148600800-148601200	Active TSS	Colonic Mucosa	Colon
48	chr2:148600800-148601200	Flanking Active TSS	Colon Smooth Muscle	Colon
49	chr2:148600800-148601200	Flanking Active TSS	Fetal Heart	heart
50	chr2:148600800-148601200	Flanking Active TSS	Fetal Intestine Large	intestine

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