Variant report

Variant	esv3345664
Chromosome Location	chr1:228193354-228196202
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:793)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr1:228195016-228195184	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTBP2	chr1:228194818-228196031	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTBP2	chr1:228191942-228194483	H1-hESC	embryonic stem cell:	n/a	n/a
4	EGR1	chr1:228194938-228195196	K562	blood:	n/a	chr1:228194939-228194949 chr1:228195081-228195091 chr1:228195081-228195091 chr1:228195079-228195093 chr1:228195080-228195091 chr1:228195082-228195091 chr1:228195079-228195092 chr1:228195080-228195091
5	EGR1	chr1:228194926-228195220	K562	blood:	n/a	chr1:228194939-228194949 chr1:228195081-228195091 chr1:228195081-228195091 chr1:228195079-228195093 chr1:228195080-228195091 chr1:228195082-228195091 chr1:228195079-228195092 chr1:228195080-228195091
6	GABPA	chr1:228193790-228194503	H1-hESC	embryonic stem cell:	n/a	chr1:228194338-228194347
7	GABPA	chr1:228194695-228195040	H1-hESC	embryonic stem cell:	n/a	chr1:228194940-228194949
8	GABPA	chr1:228194710-228195210	H1-hESC	embryonic stem cell:	n/a	chr1:228194940-228194949
9	MYC	chr1:228195902-228196051	H1-hESC	embryonic stem cell:	n/a	n/a
10	SUZ12	chr1:228194813-228197060	H1-hESC	embryonic stem cell:	n/a	n/a
11	SUZ12	chr1:228194787-228196855	NT2-D1	testis:	n/a	n/a
12	SUZ12	chr1:228193119-228194429	H1-hESC	embryonic stem cell:	n/a	n/a
13	TBP	chr1:228195116-228195170	H1-hESC	embryonic stem cell:	n/a	n/a
14	ZBTB7A	chr1:228194691-228195139	ECC-1	luminal epithelium:	n/a	n/a
15	ZNF143	chr1:228193664-228194085	H1-hESC	embryonic stem cell:	n/a	n/a
16	ZNF263	chr1:228193357-228193722	HEK293-T-REx	kidney:	n/a	chr1:228193508-228193517

(count:793 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:228196198-228196248	HL-60	blood:	n/a
2	chr1:228193529-228193579	HRPEpiC	eye:	n/a
3	chr1:228194476-228194526	HIPEpiC	eye:	n/a
4	chr1:228194476-228194526	HCT-116	colon:	n/a
5	chr1:228193587-228193637	K562	blood:	n/a
6	chr1:228193585-228193635	HMEC	breast:	n/a
7	chr1:228194916-228194966	HRE	kidney:	n/a
8	chr1:228195794-228195844	ECC-1	luminal epithelium:	n/a
9	chr1:228193587-228193637	BJ	skin:	n/a
10	chr1:228196198-228196248	HCM	heart:	n/a
11	chr1:228195083-228195133	AoSMC	blood vessel:	n/a
12	chr1:228195522-228195572	HCM	heart:	n/a
13	chr1:228195377-228195427	Caco-2	colon:	n/a
14	chr1:228196198-228196248	ovcar-3	ovarian:	n/a
15	chr1:228195377-228195427	NT2-D1	testis:	n/a
16	chr1:228193529-228193579	BJ	skin:	n/a
17	chr1:228193529-228193579	A549	lung:	n/a
18	chr1:228195794-228195844	HCPEpiC	choroid plexus:	n/a
19	chr1:228194916-228194966	ProgFib	skin:	n/a
20	chr1:228195794-228195844	HAEpiC	amniotic membrane:	n/a
21	chr1:228194916-228194966	HPAEpiC	pulmonary alveolar:	n/a
22	chr1:228194443-228194493	PANC-1	pancreas:	n/a
23	chr1:228194036-228194086	HCF	heart:	n/a
24	chr1:228195377-228195427	CMK	blood:	n/a
25	chr1:228196198-228196248	MCF10A-Er-Src	breast:	n/a
26	chr1:228194036-228194086	RPTEC	kidney:	n/a
27	chr1:228194916-228194966	SAEC	small airway:	n/a
28	chr1:228194443-228194493	GM06990	blood:	n/a
29	chr1:228195377-228195427	HNPCEpiC	eye:	n/a
30	chr1:228195794-228195844	HRCEpiC	kidney:	n/a
31	chr1:228195779-228195829	GM12891	blood:	n/a
32	chr1:228193585-228193635	SK-N-MC	brain:	n/a
33	chr1:228194036-228194086	NH-A	brain:	n/a
34	chr1:228195522-228195572	NB4	blood:	n/a
35	chr1:228195083-228195133	SK-N-MC	brain:	n/a
36	chr1:228194443-228194493	HEEpiC	esophagus:	n/a
37	chr1:228195779-228195829	HIPEpiC	eye:	n/a
38	chr1:228195083-228195133	IMR90	lung:	fetal
39	chr1:228193585-228193635	NT2-D1	testis:	n/a
40	chr1:228195779-228195829	MCF10A-Er-Src	breast:	n/a
41	chr1:228194036-228194086	SK-N-SH_RA	brain:	n/a
42	chr1:228196198-228196248	HCF	heart:	n/a
43	chr1:228193585-228193635	GM19239	blood:	n/a
44	chr1:228194476-228194526	MCF10A-Er-Src	breast:	n/a
45	chr1:228194476-228194526	SK-N-SH_RA	brain:	n/a
46	chr1:228195083-228195133	ECC-1	luminal epithelium:	n/a
47	chr1:228195083-228195133	NT2-D1	testis:	n/a
48	chr1:228194916-228194966	AG10803	skin:	n/a
49	chr1:228194476-228194526	BJ	skin:	n/a
50	chr1:228193587-228193637	HPAEpiC	pulmonary alveolar:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:228194958..228197764-chr1:228296157..228297740,2	K562	blood:
2	chr1:228195432..228198403-chr1:228200183..228201767,2	K562	blood:
3	chr1:228184192..228186220-chr1:228191479..228194171,2	MCF-7	breast:
4	chr1:228191350..228193786-chr1:228257693..228259549,2	MCF-7	breast:
5	chr1:228191215..228193545-chr1:228195515..228198090,2	MCF-7	breast:
6	chr1:228190036..228193608-chr1:228195528..228197492,3	MCF-7	breast:
7	chr1:228191780..228193444-chr1:228317568..228320348,2	MCF-7	breast:
8	chr1:228192133..228194243-chr1:228287809..228289393,2	K562	blood:
9	chr1:228191215..228193545-chr1:228195515..228198090,2	MCF-7	breast:
10	chr1:228192379..228197446-chr1:228268248..228273367,9	MCF-7	breast:
11	chr1:228190036..228193608-chr1:228195528..228197492,3	MCF-7	breast:
12	chr1:228194854..228196535-chr1:228199538..228201142,2	MCF-7	breast:
13	chr1:228193720..228196616-chr1:228296879..228298469,2	MCF-7	breast:

No data

Variant related genes	Relation type
WNT3A	TF binding region
WNT3A	CpG island
ENSG00000162910	chromatin interactions
ENSG00000143761	chromatin interactions

Extended variants
information (count: 77 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186128231	chr1:228193368-228193369	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs555932588	chr1:228193379-228193380	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs574178364	chr1:228193391-228193392	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs74672629	chr1:228193393-228193394	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs112871589	chr1:228193412-228193413	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs76920565	chr1:228193414-228193415	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs545307716	chr1:228193450-228193451	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs376633913	chr1:228193452-228193453	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs546321296	chr1:228193466-228193467	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs559978353	chr1:228193528-228193529	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs142882794	chr1:228193533-228193534	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs139977284	chr1:228193555-228193556	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs3840459	chr1:228193592-228193593	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs116689415	chr1:228193617-228193618	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs560699706	chr1:228193624-228193625	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs531427690	chr1:228193641-228193642	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs13373831	chr1:228193791-228193792	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs577237671	chr1:228193808-228193809	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs964941	chr1:228193857-228193858	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs545038304	chr1:228193891-228193892	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs145046306	chr1:228193920-228193921	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs56888086	chr1:228193931-228193932	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs138847704	chr1:228193937-228193938	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs534441350	chr1:228193956-228193957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs369320815	chr1:228194004-228194005	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs149356066	chr1:228194068-228194069	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs538339805	chr1:228194077-228194078	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs144652777	chr1:228194109-228194110	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs74143611	chr1:228194140-228194141	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs137928867	chr1:228194154-228194155	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs375866271	chr1:228194158-228194159	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs530732677	chr1:228194171-228194172	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs538638310	chr1:228194225-228194226	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs553675768	chr1:228194357-228194358	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs572008724	chr1:228194512-228194513	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs575335479	chr1:228194621-228194622	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs542457120	chr1:228194734-228194735	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs560760401	chr1:228194746-228194747	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs76933265	chr1:228194775-228194776	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs142002943	chr1:228194796-228194797	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs564795189	chr1:228194892-228194893	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs532168900	chr1:228194895-228194896	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs189235103	chr1:228194973-228194974	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs560806680	chr1:228194977-228194978	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs111337619	chr1:228194984-228194985	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs527998858	chr1:228195029-228195030	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs181591169	chr1:228195074-228195075	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs115913525	chr1:228195079-228195080	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs186692850	chr1:228195122-228195123	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs550280816	chr1:228195123-228195124	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	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
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:250 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228191000-228194400	Weak transcription	Right Atrium	heart
2	chr1:228191800-228193800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
3	chr1:228191800-228194000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:228191800-228194200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:228192000-228194000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:228192000-228194600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr1:228192000-228194600	Bivalent Enhancer	Fetal Stomach	stomach
8	chr1:228192200-228193600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
9	chr1:228192200-228194000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:228192200-228196800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr1:228192400-228193800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
12	chr1:228192400-228195200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
13	chr1:228192600-228193400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:228192600-228194200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:228192600-228194400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:228192800-228193600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:228192800-228194800	Bivalent Enhancer	Placenta	Placenta
18	chr1:228193000-228193400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
19	chr1:228193000-228193400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:228193000-228193400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:228193000-228193600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
22	chr1:228193200-228193400	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
23	chr1:228193200-228193400	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr1:228193200-228193400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
25	chr1:228193200-228193400	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:228193200-228193600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
27	chr1:228193200-228193600	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:228193200-228194200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
29	chr1:228193200-228194200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
30	chr1:228193400-228193600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
31	chr1:228193400-228193600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:228193400-228193600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr1:228193400-228193800	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
34	chr1:228193400-228193800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
35	chr1:228193400-228194000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:228193400-228194200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
37	chr1:228193400-228194400	Bivalent Enhancer	Esophagus	oesophagus
38	chr1:228193400-228196600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
39	chr1:228193600-228193800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
40	chr1:228193600-228193800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
41	chr1:228193600-228193800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr1:228193600-228194000	Bivalent Enhancer	NHEK	skin
43	chr1:228193600-228194400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr1:228193600-228195000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
45	chr1:228193600-228196200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
46	chr1:228193800-228194000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr1:228193800-228194000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
48	chr1:228193800-228194000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
49	chr1:228193800-228194000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
50	chr1:228193800-228194000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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