Variant report

Variant	esv3423677
Chromosome Location	chr3:150802287-150805135
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr3:150803214-150803586	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr3:150803192-150803563	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr3:150804481-150804658	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr3:150802958-150803574	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr3:150803920-150804259	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCLAF1	chr3:150804419-150804730	GM12878	blood:	n/a	chr3:150804448-150804457 chr3:150804451-150804460
7	BRCA1	chr3:150803403-150803632	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD1	chr3:150803286-150803476	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD1	chr3:150804022-150804801	H1-hESC	embryonic stem cell:	n/a	chr3:150804396-150804406
10	CHD2	chr3:150804394-150804633	HepG2	liver:	n/a	chr3:150804396-150804406
11	CHD2	chr3:150803302-150803548	HepG2	liver:	n/a	n/a
12	CHD2	chr3:150804435-150804771	H1-hESC	embryonic stem cell:	n/a	n/a
13	CHD2	chr3:150803224-150803646	H1-hESC	embryonic stem cell:	n/a	n/a
14	CREB1	chr3:150803185-150803619	A549	lung:	n/a	n/a
15	CREB1	chr3:150804417-150804765	A549	lung:	n/a	n/a
16	CTBP2	chr3:150802771-150803510	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTBP2	chr3:150803773-150805045	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr3:150804580-150804730	HEEpiC	esophagus:	n/a	chr3:150804639-150804657
19	CTCF	chr3:150804600-150804750	NHLF	lung:	n/a	chr3:150804639-150804657
20	CTCF	chr3:150804473-150804808	GM12878	blood:	n/a	chr3:150804571-150804584 chr3:150804639-150804657
21	CTCF	chr3:150803272-150803316	GM13977	blood:	n/a	chr3:150803281-150803299 chr3:150803284-150803297
22	CTCF	chr3:150804529-150804725	K562	blood:	n/a	chr3:150804571-150804584 chr3:150804639-150804657
23	CTCF	chr3:150804680-150804830	WI-38	lung:	n/a	n/a
24	CTCF	chr3:150804570-150804745	GM10266	blood:	n/a	chr3:150804571-150804584 chr3:150804639-150804657
25	CTCF	chr3:150803060-150803210	HFF	foreskin:	n/a	chr3:150803082-150803095
26	CTCF	chr3:150804620-150804770	GM12867	blood:	n/a	chr3:150804639-150804657
27	CTCF	chr3:150804580-150804730	HMF	breast:	n/a	chr3:150804639-150804657
28	CTCF	chr3:150803260-150803410	HRPEpiC	eye:	n/a	chr3:150803281-150803299 chr3:150803284-150803297
29	CTCF	chr3:150803180-150803330	HAc	cerebellar:	n/a	chr3:150803281-150803299 chr3:150803284-150803297
30	CTCF	chr3:150804329-150804804	T-47D	breast:	n/a	chr3:150804372-150804385 chr3:150804571-150804584 chr3:150804639-150804657
31	CTCF	chr3:150803240-150803390	WERI-Rb-1	eye:	n/a	chr3:150803281-150803299 chr3:150803284-150803297
32	CTCF	chr3:150803960-150804110	BE2_C	brain:	n/a	n/a
33	CTCF	chr3:150803240-150803390	GM12869	blood:	n/a	chr3:150803281-150803299 chr3:150803284-150803297
34	CTCF	chr3:150803139-150803441	MCF-7	breast:	n/a	chr3:150803281-150803299 chr3:150803284-150803297
35	CTCF	chr3:150804640-150804790	RPTEC	kidney:	n/a	n/a
36	CTCF	chr3:150803196-150803379	GM13976	blood:	n/a	chr3:150803281-150803299 chr3:150803284-150803297
37	CTCF	chr3:150804500-150804650	GM12874	blood:	n/a	chr3:150804571-150804584
38	CTCF	chr3:150804560-150804710	GM12867	blood:	n/a	chr3:150804571-150804584 chr3:150804639-150804657
39	CTCF	chr3:150804600-150804750	HAc	cerebellar:	n/a	chr3:150804639-150804657
40	CTCF	chr3:150805060-150805210	HCPEpiC	choroid plexus:	n/a	n/a
41	CTCF	chr3:150803240-150803390	GM12875	blood:	n/a	chr3:150803281-150803299 chr3:150803284-150803297
42	CTCF	chr3:150803180-150803330	GM12874	blood:	n/a	chr3:150803281-150803299 chr3:150803284-150803297
43	CTCF	chr3:150804600-150804750	GM12874	blood:	n/a	chr3:150804639-150804657
44	CTCF	chr3:150804580-150804730	BJ	skin:	n/a	chr3:150804639-150804657
45	CTCF	chr3:150804920-150805070	HFF-Myc	foreskin:	n/a	n/a
46	CTCF	chr3:150804480-150804630	BE2_C	brain:	n/a	chr3:150804571-150804584
47	CTCF	chr3:150804492-150804774	GM12878	blood:	n/a	chr3:150804571-150804584 chr3:150804639-150804657
48	CTCF	chr3:150803194-150803373	GM19239	blood:	n/a	chr3:150803281-150803299 chr3:150803284-150803297
49	CTCF	chr3:150803220-150803370	BE2_C	brain:	n/a	chr3:150803281-150803299 chr3:150803284-150803297
50	CTCF	chr3:150804500-150804751	SK-N-SH_RA	brain:	n/a	chr3:150804571-150804584 chr3:150804639-150804657

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:150802828-150802878	PANC-1	pancreas:	n/a
2	chr3:150802828-150802878	PANC-1	pancreas:	n/a
3	chr3:150804490-150804540	GM06990	blood:	n/a
4	chr3:150802828-150802878	AG04449	skin:	fetal
5	chr3:150804058-150804108	RPTEC	kidney:	n/a
6	chr3:150804313-150804363	HRCEpiC	kidney:	n/a
7	chr3:150804063-150804113	HEK293	kidney:	embryo
8	chr3:150804490-150804540	MCF-7	breast:	n/a
9	chr3:150804313-150804363	SK-N-SH_RA	brain:	n/a
10	chr3:150804696-150804746	Hepatocyte	liver:	n/a
11	chr3:150803669-150803719	IMR90	lung:	fetal
12	chr3:150804490-150804540	PANC-1	pancreas:	n/a
13	chr3:150802997-150803047	HUVEC	blood vessel:	n/a
14	chr3:150804490-150804540	Hela-S3	cervix:	n/a
15	chr3:150803666-150803716	HRCEpiC	kidney:	n/a
16	chr3:150803307-150803357	PFSK-1	brain:	n/a
17	chr3:150802828-150802878	NHBE	bronchial:	n/a
18	chr3:150803666-150803716	H1-hESC	embryonic stem cell:	embryo
19	chr3:150803307-150803357	MCF10A-Er-Src	breast:	n/a
20	chr3:150804696-150804746	HMEC	breast:	n/a
21	chr3:150803307-150803357	CMK	blood:	n/a
22	chr3:150804313-150804363	HUVEC	blood vessel:	n/a
23	chr3:150804490-150804540	AG09309	skin:	n/a
24	chr3:150804696-150804746	H1-hESC	embryonic stem cell:	embryo
25	chr3:150803307-150803357	GM06990	blood:	n/a
26	chr3:150803669-150803719	H1-hESC	embryonic stem cell:	embryo
27	chr3:150804719-150804769	GM06990	blood:	n/a
28	chr3:150803669-150803719	HL-60	blood:	n/a
29	chr3:150802997-150803047	HEEpiC	esophagus:	n/a
30	chr3:150803295-150803345	ovcar-3	ovarian:	n/a
31	chr3:150804063-150804113	HAEpiC	amniotic membrane:	n/a
32	chr3:150804313-150804363	HIPEpiC	eye:	n/a
33	chr3:150803666-150803716	HepG2	liver:	n/a
34	chr3:150802997-150803047	AG09319	gingival:	n/a
35	chr3:150804719-150804769	GM12878	blood:	n/a
36	chr3:150803669-150803719	BE2_C	brain:	n/a
37	chr3:150803307-150803357	AG04450	lung:	fetal
38	chr3:150804313-150804363	AoSMC	blood vessel:	n/a
39	chr3:150804696-150804746	HEEpiC	esophagus:	n/a
40	chr3:150804063-150804113	AG09319	gingival:	n/a
41	chr3:150804058-150804108	Jurkat	blood:	n/a
42	chr3:150804696-150804746	GM06990	blood:	n/a
43	chr3:150803669-150803719	BJ	skin:	n/a
44	chr3:150802997-150803047	NH-A	brain:	n/a
45	chr3:150803307-150803357	HPAEpiC	pulmonary alveolar:	n/a
46	chr3:150804719-150804769	HIPEpiC	eye:	n/a
47	chr3:150804058-150804108	HepG2	liver:	n/a
48	chr3:150802828-150802878	AG04450	lung:	fetal
49	chr3:150804063-150804113	SAEC	small airway:	n/a
50	chr3:150804063-150804113	PFSK-1	brain:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:150795435..150798003-chr3:150801698..150803244,2	MCF-7	breast:
2	chr3:150796209..150802541-chr3:150803490..150806626,8	MCF-7	breast:

Variant related genes	Relation type
MED12L	TF binding region
MED12L	CpG island
ENSG00000144893	chromatin interactions

Extended variants
information (count: 110 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574228158	chr3:150802292-150802293	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs544105144	chr3:150802328-150802329	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs371944667	chr3:150802349-150802350	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs563858938	chr3:150802398-150802399	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs114581485	chr3:150802479-150802480	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs79470976	chr3:150802511-150802512	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs144365263	chr3:150802592-150802593	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs528181876	chr3:150802595-150802596	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs551100759	chr3:150802627-150802628	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs570906453	chr3:150802629-150802630	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs543230306	chr3:150802642-150802643	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs536677318	chr3:150802648-150802649	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs550837941	chr3:150802651-150802652	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs532487396	chr3:150802652-150802653	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs567464906	chr3:150802670-150802671	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs543146986	chr3:150802679-150802680	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs189757793	chr3:150802680-150802681	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs552896973	chr3:150802685-150802686	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs77416357	chr3:150802717-150802718	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs182418604	chr3:150802746-150802747	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs1355126	chr3:150802791-150802792	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs550105552	chr3:150802819-150802820	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs578058073	chr3:150802865-150802866	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
24	rs141542909	chr3:150802889-150802890	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs187955036	chr3:150802952-150802953	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs557602912	chr3:150802990-150802991	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs574254036	chr3:150803036-150803037	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
28	rs543166674	chr3:150803061-150803062	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs559681296	chr3:150803067-150803068	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs3105872	chr3:150803136-150803137	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs528706957	chr3:150803144-150803145	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs3105871	chr3:150803145-150803146	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs3116561	chr3:150803153-150803154	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs551172498	chr3:150803169-150803170	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs116917678	chr3:150803170-150803171	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs375682435	chr3:150803216-150803217	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs530391301	chr3:150803268-150803269	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs550328440	chr3:150803379-150803380	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs368773930	chr3:150803408-150803409	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs529957618	chr3:150803409-150803410	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs546915992	chr3:150803442-150803443	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs566672234	chr3:150803452-150803453	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs543145186	chr3:150803510-150803511	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs533887419	chr3:150803517-150803518	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs538868055	chr3:150803539-150803540	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs558247836	chr3:150803579-150803580	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs571788072	chr3:150803596-150803597	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs537393628	chr3:150803611-150803612	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs557086135	chr3:150803643-150803644	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs138801701	chr3:150803669-150803670	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

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	22032731	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
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	16773561	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Uveal melanoma	20484589	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:448 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150795600-150802800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr3:150800000-150802600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:150801400-150802400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:150801400-150802600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:150801400-150802800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr3:150801600-150802400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:150801800-150802600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:150802000-150802400	Enhancers	Placenta	Placenta
9	chr3:150802200-150802400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
10	chr3:150802200-150802600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
11	chr3:150802200-150802800	Bivalent/Poised TSS	Primary B cells from cord blood	blood
12	chr3:150802400-150802600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr3:150802400-150802600	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
14	chr3:150802400-150802600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
15	chr3:150802400-150802600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr3:150802400-150802600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr3:150802400-150802600	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr3:150802400-150802600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
19	chr3:150802400-150802600	Bivalent Enhancer	Placenta	Placenta
20	chr3:150802400-150802800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr3:150802400-150802800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
22	chr3:150802400-150802800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
23	chr3:150802400-150802800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr3:150802400-150802800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
25	chr3:150802400-150802800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
26	chr3:150802400-150803000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
27	chr3:150802400-150803000	Bivalent Enhancer	NHEK	skin
28	chr3:150802600-150802800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr3:150802600-150802800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr3:150802600-150802800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr3:150802600-150802800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
32	chr3:150802600-150802800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
33	chr3:150802600-150802800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr3:150802600-150802800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr3:150802600-150802800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
36	chr3:150802600-150802800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
37	chr3:150802600-150802800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
38	chr3:150802600-150802800	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 2	blood
39	chr3:150802600-150802800	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
40	chr3:150802600-150802800	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
41	chr3:150802600-150802800	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 1	blood
42	chr3:150802600-150802800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
43	chr3:150802600-150802800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
44	chr3:150802600-150802800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr3:150802600-150802800	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
46	chr3:150802600-150802800	Bivalent Enhancer	Brain Hippocampus Middle	brain
47	chr3:150802600-150802800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
48	chr3:150802600-150802800	Bivalent Enhancer	Fetal Brain Male	brain
49	chr3:150802600-150802800	Bivalent Enhancer	Fetal Intestine Large	intestine
50	chr3:150802600-150802800	Bivalent Enhancer	Fetal Intestine Small	intestine

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