Variant report

Variant	esv1822854
Chromosome Location	chr1:246668544-246685307
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:532)
CpG islands
(count:977)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:532 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:246670516-246670577	HepG2	liver:	n/a	n/a
2	BACH1	chr1:246669921-246670862	H1-hESC	embryonic stem cell:	n/a	n/a
3	BATF	chr1:246671669-246671904	GM12878	blood:	n/a	n/a
4	BHLHE40	chr1:246669580-246670905	K562	blood:	n/a	chr1:246670272-246670288 chr1:246670628-246670644 chr1:246670269-246670285
5	BHLHE40	chr1:246670007-246670896	GM12878	blood:	n/a	chr1:246670272-246670288 chr1:246670628-246670644 chr1:246670269-246670285
6	BHLHE40	chr1:246672265-246672773	HepG2	liver:	n/a	n/a
7	BHLHE40	chr1:246670485-246670836	A549	lung:	n/a	chr1:246670628-246670644
8	BHLHE40	chr1:246670286-246670994	HepG2	liver:	n/a	chr1:246670628-246670644
9	BHLHE40	chr1:246670536-246670811	HepG2	liver:	n/a	chr1:246670628-246670644
10	BRCA1	chr1:246670522-246670708	HepG2	liver:	n/a	n/a
11	BRCA1	chr1:246670381-246670516	GM12878	blood:	n/a	n/a
12	CBX3	chr1:246678364-246679339	K562	blood:	n/a	n/a
13	CBX3	chr1:246678327-246679192	K562	blood:	n/a	n/a
14	CBX3	chr1:246678506-246679153	HCT-116	colon:	n/a	n/a
15	CBX3	chr1:246670288-246671321	K562	blood:	n/a	n/a
16	CBX3	chr1:246678484-246679166	HCT-116	colon:	n/a	n/a
17	CCNT2	chr1:246670054-246670811	K562	blood:	n/a	chr1:246670626-246670635
18	CEBPB	chr1:246670479-246670725	H1-hESC	embryonic stem cell:	n/a	n/a
19	CEBPB	chr1:246670340-246670886	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr1:246670544-246670667	K562	blood:	n/a	n/a
21	CEBPD	chr1:246670296-246670745	HepG2	liver:	n/a	n/a
22	CHD1	chr1:246670424-246670495	GM12878	blood:	n/a	n/a
23	CHD2	chr1:246670415-246670665	GM12878	blood:	n/a	chr1:246670627-246670637
24	CHD2	chr1:246670703-246670860	HepG2	liver:	n/a	n/a
25	CHD2	chr1:246670471-246670492	K562	blood:	n/a	n/a
26	CHD2	chr1:246669668-246669672	HepG2	liver:	n/a	n/a
27	CHD2	chr1:246669992-246670849	Hela-S3	cervix:	n/a	chr1:246670627-246670637
28	CREB1	chr1:246670330-246670843	A549	lung:	n/a	n/a
29	CREB1	chr1:246670158-246671172	HepG2	liver:	n/a	n/a
30	CREB1	chr1:246670248-246670990	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr1:246670400-246670550	BJ	skin:	n/a	n/a
32	CTCF	chr1:246670400-246670550	GM12872	blood:	n/a	n/a
33	CTCF	chr1:246670476-246670623	MCF-7	breast:	n/a	n/a
34	CTCF	chr1:246670420-246670570	AG04449	skin:	n/a	n/a
35	CTCF	chr1:246670240-246670390	AG04449	skin:	n/a	chr1:246670250-246670263
36	CTCF	chr1:246670412-246670662	NHEK	skin:	n/a	n/a
37	CTCF	chr1:246670400-246670550	GM12878	blood:	n/a	n/a
38	CTCF	chr1:246670160-246670310	AoAF	blood vessel:	n/a	chr1:246670250-246670263
39	CTCF	chr1:246672193-246672542	MCF-7	breast:	n/a	n/a
40	CTCF	chr1:246670457-246670645	LNCaP	prostate:	n/a	n/a
41	CTCF	chr1:246670420-246670570	HCFaa	heart:	n/a	n/a
42	CTCF	chr1:246670460-246670610	GM12875	blood:	n/a	n/a
43	CTCF	chr1:246670480-246670630	GM12869	blood:	n/a	n/a
44	CTCF	chr1:246670449-246670676	HepG2	liver:	n/a	n/a
45	CTCF	chr1:246670379-246670669	IMR90	lung:	n/a	n/a
46	CTCF	chr1:246670460-246670610	K562	blood:	n/a	n/a
47	CTCF	chr1:246672243-246672427	HepG2	liver:	n/a	n/a
48	CTCF	chr1:246670435-246670632	Pancreas_OC	pancreas:	n/a	n/a
49	CTCF	chr1:246672260-246672410	HepG2	liver:	n/a	n/a
50	CTCF	chr1:246685009-246685072	LNCaP	prostate:	n/a	n/a

(count:977 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:246670726-246670776	NH-A	brain:	n/a
2	chr1:246670726-246670776	NH-A	brain:	n/a
3	chr1:246670800-246670850	NHBE	bronchial:	n/a
4	chr1:246670754-246670804	Caco-2	colon:	n/a
5	chr1:246670217-246670267	HCT-116	colon:	n/a
6	chr1:246670199-246670249	AG04449	skin:	fetal
7	chr1:246684113-246684163	HCM	heart:	n/a
8	chr1:246684329-246684379	ECC-1	luminal epithelium:	n/a
9	chr1:246684113-246684163	AG04449	skin:	fetal
10	chr1:246684113-246684163	HRCEpiC	kidney:	n/a
11	chr1:246670217-246670267	SK-N-SH_RA	brain:	n/a
12	chr1:246670754-246670804	SAEC	small airway:	n/a
13	chr1:246669975-246670025	HAEpiC	amniotic membrane:	n/a
14	chr1:246684329-246684379	GM19239	blood:	n/a
15	chr1:246684113-246684163	SAEC	small airway:	n/a
16	chr1:246670754-246670804	SK-N-SH	brain:	n/a
17	chr1:246684113-246684163	BJ	skin:	n/a
18	chr1:246670199-246670249	RPTEC	kidney:	n/a
19	chr1:246670859-246670909	HAEpiC	amniotic membrane:	n/a
20	chr1:246669975-246670025	ProgFib	skin:	n/a
21	chr1:246670898-246670948	CMK	blood:	n/a
22	chr1:246670859-246670909	H1-hESC	embryonic stem cell:	embryo
23	chr1:246670940-246670990	HPAEpiC	pulmonary alveolar:	n/a
24	chr1:246671665-246671715	GM12878	blood:	n/a
25	chr1:246671665-246671715	HL-60	blood:	n/a
26	chr1:246669975-246670025	LNCaP	prostate:	n/a
27	chr1:246670726-246670776	HPAEpiC	pulmonary alveolar:	n/a
28	chr1:246670459-246670509	CMK	blood:	n/a
29	chr1:246670728-246670778	HUVEC	blood vessel:	n/a
30	chr1:246672913-246672963	SAEC	small airway:	n/a
31	chr1:246684329-246684379	HEK293	kidney:	embryo
32	chr1:246672913-246672963	AG10803	skin:	n/a
33	chr1:246684113-246684163	HCF	heart:	n/a
34	chr1:246684113-246684163	AG09309	skin:	n/a
35	chr1:246670217-246670267	AG10803	skin:	n/a
36	chr1:246670898-246670948	H1-hESC	embryonic stem cell:	embryo
37	chr1:246684113-246684163	GM12878	blood:	n/a
38	chr1:246684113-246684163	Hela-S3	cervix:	n/a
39	chr1:246672913-246672963	A549	lung:	n/a
40	chr1:246669975-246670025	GM12892	blood:	n/a
41	chr1:246670859-246670909	NT2-D1	testis:	n/a
42	chr1:246670800-246670850	GM12892	blood:	n/a
43	chr1:246669975-246670025	AG04449	skin:	fetal
44	chr1:246684329-246684379	A549	lung:	n/a
45	chr1:246670726-246670776	HAEpiC	amniotic membrane:	n/a
46	chr1:246670754-246670804	HepG2	liver:	n/a
47	chr1:246670459-246670509	NHDF-neo	bronchial:	n/a
48	chr1:246670940-246670990	GM06990	blood:	n/a
49	chr1:246670898-246670948	Hepatocyte	liver:	n/a
50	chr1:246670800-246670850	HEK293	kidney:	embryo

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

No.	Distal block	Cell Line	Cell type
1	chr1:246668302..246670787-chr1:246727323..246729930,4	MCF-7	breast:
2	chr1:246669150..246672151-chr1:246672470..246677945,5	K562	blood:
3	chr1:246675941..246677837-chr1:246690243..246691977,2	K562	blood:
4	chr1:246679194..246683104-chr1:246689621..246693878,4	K562	blood:
5	chr1:246670144..246671144-chr11:9335985..9336628,2	HCT-116	colon:
6	chr1:246680075..246681714-chr1:246684033..246686969,2	K562	blood:
7	chr1:246671783..246672632-chr1:246690944..246691587,2	MCF-7	breast:
8	chr1:246672116..246673896-chr1:246728925..246730470,2	MCF-7	breast:
9	chr1:246667355..246669348-chr1:246768936..246771912,2	K562	blood:

No data

Variant related genes	Relation type
SMYD3	TF binding region
SMYD3	CpG island
ENSG00000185420	chromatin interactions
ENSG00000166471	chromatin interactions
ENSG00000227728	chromatin interactions
ENSG00000230813	chromatin interactions
ENSG00000162851	chromatin interactions
ENSG00000229112	chromatin interactions
ENSG00000162852	chromatin interactions
ENSG00000225300	chromatin interactions

Extended variants
information (count: 704 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:704 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4654274	chr1:246668544-246668545	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs544933524	chr1:246668569-246668570	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs373135251	chr1:246668591-246668592	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs201044038	chr1:246668600-246668601	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs11436158	chr1:246668601-246668602	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs33936302	chr1:246668602-246668603	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs575074670	chr1:246668641-246668642	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs184514706	chr1:246668655-246668656	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs573555428	chr1:246668685-246668686	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs560610578	chr1:246668696-246668697	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs190199560	chr1:246668716-246668717	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs7531213	chr1:246668727-246668728	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs111391483	chr1:246668731-246668732	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs377667119	chr1:246668732-246668733	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs7522329	chr1:246668742-246668743	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs146118078	chr1:246668769-246668770	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs548075122	chr1:246668779-246668780	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs568055107	chr1:246668785-246668786	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs139874843	chr1:246668801-246668802	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs547304605	chr1:246668819-246668820	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs568558151	chr1:246668852-246668853	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs570501097	chr1:246668865-246668866	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs11447885	chr1:246668873-246668874	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs398090054	chr1:246668875-246668876	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs539177435	chr1:246668879-246668880	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs556157342	chr1:246668928-246668929	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs569674629	chr1:246668941-246668942	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs535493021	chr1:246668942-246668943	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs186725319	chr1:246668943-246668944	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs575237661	chr1:246668961-246668962	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs10642188	chr1:246668969-246668970	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs35235424	chr1:246668970-246668971	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs397964032	chr1:246668971-246668972	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs190780836	chr1:246668976-246668977	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs554087298	chr1:246668984-246668985	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs202135657	chr1:246669010-246669011	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs10754520	chr1:246669033-246669034	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs375093047	chr1:246669124-246669125	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs114291328	chr1:246669181-246669182	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs76253419	chr1:246669245-246669246	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs531588319	chr1:246669251-246669252	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs541855306	chr1:246669270-246669271	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs574878480	chr1:246669329-246669330	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs10737790	chr1:246669346-246669347	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs527612282	chr1:246669391-246669392	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs573987282	chr1:246669426-246669427	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs570564758	chr1:246669427-246669428	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs533000919	chr1:246669441-246669442	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs544015680	chr1:246669478-246669479	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs142100816	chr1:246669530-246669531	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Neuroblastoma	21899760	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	20729466	CNVD
Testicular germ cell tumor	18059402	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	19805367	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:532 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246656000-246669200	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr1:246656000-246669200	Weak transcription	Fetal Brain Male	brain
3	chr1:246656000-246669400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:246656000-246669400	Weak transcription	Fetal Intestine Small	intestine
5	chr1:246656000-246669400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr1:246656200-246669000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:246656200-246669200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr1:246656200-246669400	Weak transcription	Fetal Stomach	stomach
9	chr1:246661000-246669000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr1:246661200-246669000	Weak transcription	Primary B cells from peripheral blood	blood
11	chr1:246661200-246669000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:246661200-246669200	Weak transcription	Primary B cells from cord blood	blood
13	chr1:246661200-246669400	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr1:246661200-246669400	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr1:246661600-246669400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr1:246662600-246669400	Weak transcription	Fetal Thymus	thymus
17	chr1:246662800-246669600	Weak transcription	Esophagus	oesophagus
18	chr1:246663800-246669400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr1:246664000-246669200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr1:246664000-246669800	Weak transcription	Aorta	Aorta
21	chr1:246664600-246669400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr1:246664800-246669400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:246665400-246669200	Weak transcription	Ovary	ovary
24	chr1:246665400-246669400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:246665400-246669400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:246665400-246669400	Weak transcription	Primary T cells from cord blood	blood
27	chr1:246665400-246669400	Weak transcription	Gastric	stomach
28	chr1:246665400-246669600	Weak transcription	Right Ventricle	heart
29	chr1:246665600-246669600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr1:246665800-246669600	Weak transcription	Spleen	Spleen
31	chr1:246666400-246669200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:246666600-246668800	Weak transcription	Lung	lung
33	chr1:246666600-246669400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:246666600-246669600	Weak transcription	Pancreas	Pancrea
35	chr1:246666800-246668600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:246666800-246668800	Weak transcription	NH-A	brain
37	chr1:246666800-246669000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:246666800-246669200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:246666800-246669200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr1:246666800-246669200	Weak transcription	HSMM	muscle
41	chr1:246667000-246669000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:246667000-246669200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr1:246667000-246669400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr1:246667000-246669400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:246667000-246669400	Weak transcription	Osteobl	bone
46	chr1:246667200-246669600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:246667200-246669600	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr1:246667400-246668800	Weak transcription	NHDF-Ad	bronchial
49	chr1:246667600-246669200	Genic enhancers	Dnd41	blood
50	chr1:246667600-246669200	Weak transcription	HMEC	breast

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