Variant report

Variant	esv3347483
Chromosome Location	chr3:196294955-196297053
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:671)
CpG islands
(count:794)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:671 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:196295433-196295560	HepG2	liver:	n/a	n/a
2	ATF1	chr3:196295005-196295685	K562	blood:	n/a	n/a
3	ATF2	chr3:196295134-196295748	GM12878	blood:	n/a	n/a
4	ATF2	chr3:196295160-196295704	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF3	chr3:196295104-196295550	H1-hESC	embryonic stem cell:	n/a	chr3:196295257-196295270
6	ATF3	chr3:196295339-196295597	GM12878	blood:	n/a	n/a
7	ATF3	chr3:196295194-196295671	H1-hESC	embryonic stem cell:	n/a	chr3:196295257-196295270
8	ATF3	chr3:196295269-196295628	HepG2	liver:	n/a	n/a
9	ATF3	chr3:196294961-196295643	K562	blood:	n/a	chr3:196295257-196295270
10	ATF3	chr3:196295203-196295757	HepG2	liver:	n/a	chr3:196295257-196295270
11	ATF3	chr3:196295197-196295664	A549	lung:	n/a	chr3:196295257-196295270
12	ATF3	chr3:196295207-196295672	GM12878	blood:	n/a	chr3:196295257-196295270
13	ATF3	chr3:196295103-196295587	K562	blood:	n/a	chr3:196295257-196295270
14	BCL3	chr3:196295249-196295765	GM12878	blood:	n/a	chr3:196295650-196295663 chr3:196295623-196295632 chr3:196295634-196295643
15	BCLAF1	chr3:196295148-196295889	GM12878	blood:	n/a	chr3:196295650-196295663 chr3:196295623-196295632 chr3:196295634-196295643
16	BHLHE40	chr3:196295295-196295721	GM12878	blood:	n/a	chr3:196295647-196295663
17	BHLHE40	chr3:196296162-196296232	GM12878	blood:	n/a	n/a
18	BHLHE40	chr3:196295162-196295671	K562	blood:	n/a	chr3:196295647-196295663
19	BRCA1	chr3:196295296-196295688	HepG2	liver:	n/a	n/a
20	BRCA1	chr3:196295167-196295562	GM12878	blood:	n/a	n/a
21	BRCA1	chr3:196295296-196295633	H1-hESC	embryonic stem cell:	n/a	n/a
22	BRCA1	chr3:196296048-196296131	Hela-S3	cervix:	n/a	n/a
23	BRCA1	chr3:196295201-196295636	Hela-S3	cervix:	n/a	n/a
24	CBX3	chr3:196295111-196295668	K562	blood:	n/a	n/a
25	CCNT2	chr3:196295171-196296288	K562	blood:	n/a	n/a
26	CEBPB	chr3:196295400-196295538	HepG2	liver:	n/a	n/a
27	CEBPB	chr3:196295413-196295690	GM12878	blood:	n/a	n/a
28	CEBPB	chr3:196295194-196295708	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr3:196295204-196295404	K562	blood:	n/a	n/a
30	CEBPD	chr3:196295320-196295847	HepG2	liver:	n/a	n/a
31	CHD1	chr3:196295168-196295732	GM12878	blood:	n/a	n/a
32	CHD1	chr3:196295981-196296167	GM12878	blood:	n/a	n/a
33	CHD1	chr3:196296020-196296200	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD1	chr3:196295201-196295758	H1-hESC	embryonic stem cell:	n/a	n/a
35	CHD1	chr3:196294869-196296579	IMR90	lung:	n/a	chr3:196296311-196296321
36	CHD2	chr3:196296057-196296235	GM12878	blood:	n/a	n/a
37	CHD2	chr3:196295214-196295653	HepG2	liver:	n/a	n/a
38	CHD2	chr3:196296090-196296147	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD2	chr3:196295293-196295619	K562	blood:	n/a	n/a
40	CHD2	chr3:196295196-196295619	H1-hESC	embryonic stem cell:	n/a	n/a
41	CHD2	chr3:196295200-196295778	Hela-S3	cervix:	n/a	n/a
42	CHD2	chr3:196296090-196296371	Hela-S3	cervix:	n/a	chr3:196296311-196296321
43	CHD2	chr3:196294932-196295740	GM12878	blood:	n/a	n/a
44	CREB1	chr3:196295236-196295679	A549	lung:	n/a	n/a
45	CREB1	chr3:196295056-196295848	H1-hESC	embryonic stem cell:	n/a	n/a
46	CREB1	chr3:196294903-196295923	GM12878	blood:	n/a	n/a
47	CREB1	chr3:196294937-196295755	ECC-1	luminal epithelium:	n/a	n/a
48	CREB1	chr3:196294933-196295829	K562	blood:	n/a	n/a
49	CREB1	chr3:196294989-196295767	ECC-1	luminal epithelium:	n/a	n/a
50	CREB1	chr3:196294836-196295904	H1-hESC	embryonic stem cell:	n/a	chr3:196294884-196294897

(count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:196295218-196295268	BE2_C	brain:	n/a
2	chr3:196295218-196295268	BE2_C	brain:	n/a
3	chr3:196295526-196295576	HIPEpiC	eye:	n/a
4	chr3:196295526-196295576	PrEC	prostate:	n/a
5	chr3:196296032-196296082	MCF10A-Er-Src	breast:	n/a
6	chr3:196295511-196295561	NH-A	brain:	n/a
7	chr3:196296266-196296316	ProgFib	skin:	n/a
8	chr3:196295759-196295809	PANC-1	pancreas:	n/a
9	chr3:196295415-196295465	A549	lung:	n/a
10	chr3:196295526-196295576	AG09319	gingival:	n/a
11	chr3:196295759-196295809	NHBE	bronchial:	n/a
12	chr3:196295511-196295561	BJ	skin:	n/a
13	chr3:196295526-196295576	GM12878	blood:	n/a
14	chr3:196295218-196295268	A549	lung:	n/a
15	chr3:196296754-196296804	HCT-116	colon:	n/a
16	chr3:196296032-196296082	GM12891	blood:	n/a
17	chr3:196295218-196295268	AG10803	skin:	n/a
18	chr3:196296132-196296182	AG04449	skin:	fetal
19	chr3:196296132-196296182	HL-60	blood:	n/a
20	chr3:196295296-196295346	SK-N-MC	brain:	n/a
21	chr3:196296754-196296804	PFSK-1	brain:	n/a
22	chr3:196295296-196295346	ovcar-3	ovarian:	n/a
23	chr3:196296032-196296082	GM12878	blood:	n/a
24	chr3:196295373-196295423	SK-N-SH	brain:	n/a
25	chr3:196295526-196295576	HRPEpiC	eye:	n/a
26	chr3:196295764-196295814	BE2_C	brain:	n/a
27	chr3:196296754-196296804	ProgFib	skin:	n/a
28	chr3:196296132-196296182	ProgFib	skin:	n/a
29	chr3:196296032-196296082	AG04450	lung:	fetal
30	chr3:196296754-196296804	U87	brain:	n/a
31	chr3:196296032-196296082	HIPEpiC	eye:	n/a
32	chr3:196295364-196295414	HRCEpiC	kidney:	n/a
33	chr3:196295759-196295809	AoSMC	blood vessel:	n/a
34	chr3:196295759-196295809	HNPCEpiC	eye:	n/a
35	chr3:196296032-196296082	HEK293	kidney:	embryo
36	chr3:196295373-196295423	Hela-S3	cervix:	n/a
37	chr3:196295526-196295576	ECC-1	luminal epithelium:	n/a
38	chr3:196295218-196295268	ovcar-3	ovarian:	n/a
39	chr3:196295415-196295465	NHBE	bronchial:	n/a
40	chr3:196295415-196295465	ECC-1	luminal epithelium:	n/a
41	chr3:196295415-196295465	GM12892	blood:	n/a
42	chr3:196296754-196296804	SKMC	muscle:	n/a
43	chr3:196295415-196295465	K562	blood:	n/a
44	chr3:196296266-196296316	PFSK-1	brain:	n/a
45	chr3:196295415-196295465	NT2-D1	testis:	n/a
46	chr3:196295526-196295576	BJ	skin:	n/a
47	chr3:196295764-196295814	GM12892	blood:	n/a
48	chr3:196295526-196295576	CMK	blood:	n/a
49	chr3:196295415-196295465	ProgFib	skin:	n/a
50	chr3:196296266-196296316	HPAEpiC	pulmonary alveolar:	n/a

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:196294586..196296980-chr3:196730003..196731682,2	MCF-7	breast:
2	chr14:64804923..64805825-chr3:196295231..196296081,2	Hela-S3	cervix:
3	chr3:196294271..196297444-chr3:196668008..196671102,4	K562	blood:
4	chr3:196294271..196297444-chr3:196668008..196671102,3	K562	blood:
5	chr3:196294811..196297703-chr3:196694216..196696736,3	K562	blood:
6	chr17:73775423..73776072-chr3:196295009..196295935,2	Hela-S3	cervix:
7	chr3:196295485..196297090-chr3:196694773..196696786,2	MCF-7	breast:
8	chr3:196228351..196232071-chr3:196294107..196297178,4	MCF-7	breast:
9	chr3:196292428..196296416-chr3:196668494..196671676,5	MCF-7	breast:
10	chr3:196228489..196231887-chr3:196292830..196296417,3	MCF-7	breast:
11	chr3:196295017..196295540-chr7:1781548..1782050,2	Hela-S3	cervix:
12	chr3:196294356..196296088-chr3:196755433..196757925,2	K562	blood:
13	chr3:196293710..196295856-chr3:196756425..196758030,2	K562	blood:
14	chr3:196296634..196299111-chr3:196320822..196323637,2	K562	blood:
15	chr3:196296444..196298332-chr3:196436281..196438974,2	K562	blood:
16	chr3:196295234..196297248-chr3:196695881..196697586,3	MCF-7	breast:
17	chr3:196293733..196296360-chr3:196359092..196361282,2	MCF-7	breast:
18	chr3:196294148..196296034-chr6:26157528..26159567,2	MCF-7	breast:
19	chr3:196294935..196297677-chr3:196667748..196670021,2	MCF-7	breast:
20	chr3:196253926..196256027-chr3:196295277..196297106,2	K562	blood:
21	chr3:196292826..196295435-chr3:196358532..196360090,2	K562	blood:

No data

Variant related genes	Relation type
FBXO45	TF binding region
WDR53	TF binding region
FBXO45	CpG island
WDR53	CpG island
ENSG00000114503	chromatin interactions
ENSG00000228109	chromatin interactions
ENSG00000214770	chromatin interactions
ENSG00000270170	chromatin interactions
ENSG00000236081	chromatin interactions
ENSG00000132475	chromatin interactions
ENSG00000163975	chromatin interactions
ENSG00000232065	chromatin interactions
ENSG00000158373	chromatin interactions
ENSG00000119227	chromatin interactions
ENSG00000163961	chromatin interactions
ENSG00000213358	chromatin interactions

Extended variants
information (count: 94 )
Associated
traits (count: 85 )

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	rs532290724	chr3:196294956-196294957	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
2	rs544523543	chr3:196294958-196294959	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs376567939	chr3:196294964-196294965	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
4	rs562541241	chr3:196294999-196295000	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
5	rs190692856	chr3:196295010-196295011	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs547993256	chr3:196295090-196295091	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
7	rs566185781	chr3:196295102-196295103	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
8	rs527409646	chr3:196295107-196295108	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
9	rs149551632	chr3:196295112-196295113	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
10	rs551856219	chr3:196295150-196295151	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
11	rs78303566	chr3:196295163-196295164	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
12	rs538150123	chr3:196295229-196295230	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
13	rs193041941	chr3:196295232-196295233	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
14	rs568776826	chr3:196295298-196295299	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
15	rs536005441	chr3:196295300-196295301	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
16	rs554428349	chr3:196295301-196295302	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
17	rs572537238	chr3:196295356-196295357	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
18	rs539958110	chr3:196295369-196295370	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
19	rs184480139	chr3:196295370-196295371	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
20	rs150256860	chr3:196295374-196295375	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
21	rs544171331	chr3:196295404-196295405	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
22	rs73081025	chr3:196295413-196295414	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
23	rs574397498	chr3:196295463-196295464	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
24	rs541598794	chr3:196295479-196295480	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
25	rs112861249	chr3:196295530-196295531	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
26	rs373173249	chr3:196295553-196295554	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
27	rs148963357	chr3:196295554-196295555	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
28	rs563915455	chr3:196295566-196295567	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
29	rs531294736	chr3:196295584-196295585	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
30	rs549514287	chr3:196295603-196295604	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
31	rs568740126	chr3:196295609-196295610	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
32	rs536172083	chr3:196295630-196295631	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
33	rs573191757	chr3:196295642-196295643	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
34	rs188115311	chr3:196295700-196295701	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
35	rs566305496	chr3:196295827-196295828	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
36	rs539548785	chr3:196295829-196295830	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
37	rs558273863	chr3:196295871-196295872	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
38	rs576470291	chr3:196295888-196295889	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
39	rs529462437	chr3:196295907-196295908	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
40	rs537407483	chr3:196295956-196295957	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
41	rs375237644	chr3:196295978-196295979	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
42	rs181391937	chr3:196295996-196295997	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
43	rs374939494	chr3:196296048-196296049	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs574359671	chr3:196296059-196296060	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
45	rs367785550	chr3:196296063-196296064	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs541759068	chr3:196296070-196296071	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs371751879	chr3:196296112-196296113	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs77421535	chr3:196296116-196296117	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
49	rs368835436	chr3:196296118-196296119	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs184175618	chr3:196296146-196296147	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	16397240	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
speech impairment	20736978	CNVD
Intracranial aneurysm	16715129	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
Congenital anomalies of the kidney and urinary tract	20299530	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21509527	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	16760732	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20970697	CNVD
Mental retardation	19951919	CNVD
Autism	20970697	CNVD
Developmental delay	18471269	CNVD
Intellectual disability	22045946	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Uveal melanoma	20484589	CNVD
3q29 microdeletion syndrome	20500065	CNVD
Biliary cancer	20453639	CNVD
3q29 microdeletion syndrome	22283845	CNVD
3q29 microdeletion syndrome	21626679	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:452 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196293800-196295000	Enhancers	Spleen	Spleen
2	chr3:196294000-196296400	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr3:196294200-196295000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
4	chr3:196294200-196295000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:196294200-196295000	Flanking Active TSS	Dnd41	blood
6	chr3:196294200-196295000	Flanking Active TSS	NHEK	skin
7	chr3:196294200-196296200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:196294200-196296600	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr3:196294200-196296600	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr3:196294200-196296800	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr3:196294200-196297000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr3:196294400-196295000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
13	chr3:196294400-196295000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr3:196294400-196295000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr3:196294400-196295000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr3:196294400-196295000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr3:196294400-196295000	Flanking Active TSS	Brain Angular Gyrus	brain
18	chr3:196294400-196295000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr3:196294400-196295000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
20	chr3:196294400-196295000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr3:196294400-196295000	Flanking Active TSS	Hela-S3	cervix
22	chr3:196294400-196295000	Flanking Active TSS	Osteobl	bone
23	chr3:196294400-196295200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:196294400-196295200	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr3:196294400-196295200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr3:196294400-196295200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr3:196294400-196295200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr3:196294400-196295200	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr3:196294400-196295200	Flanking Active TSS	Fetal Brain Female	brain
30	chr3:196294400-196295200	Flanking Active TSS	Stomach Smooth Muscle	stomach
31	chr3:196294400-196295200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr3:196294400-196295400	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr3:196294400-196295400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr3:196294400-196296600	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr3:196294400-196296800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr3:196294400-196296800	Active TSS	Right Ventricle	heart
37	chr3:196294400-196296800	Active TSS	HSMM	muscle
38	chr3:196294400-196297000	Active TSS	H9 Cell Line	embryonic stem cell
39	chr3:196294400-196297000	Active TSS	A549	lung
40	chr3:196294400-196297200	Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr3:196294600-196295000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr3:196294600-196295000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr3:196294600-196295000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr3:196294600-196295000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr3:196294600-196295000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr3:196294600-196295000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr3:196294600-196295000	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr3:196294600-196295000	Flanking Active TSS	Brain Cingulate Gyrus	brain
49	chr3:196294600-196295000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
50	chr3:196294600-196295000	Flanking Active TSS	Colon Smooth Muscle	Colon

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