Variant report

Variant	esv3414246
Chromosome Location	chr1:144893395-144907843
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	ARID3A	chr1:144893871-144894101	K562	blood:	n/a	n/a
2	ATF1	chr1:144893850-144893916	K562	blood:	n/a	n/a
3	CEBPB	chr1:144893629-144894043	K562	blood:	n/a	n/a
4	CEBPB	chr1:144893700-144894047	HepG2	liver:	n/a	n/a
5	CEBPB	chr1:144893745-144893973	HepG2	liver:	n/a	n/a
6	CEBPB	chr1:144893729-144893974	K562	blood:	n/a	n/a
7	CTCF	chr1:144907542-144907606	GM13976	blood:	n/a	n/a
8	CTCF	chr1:144893860-144894010	Caco-2	colon:	n/a	n/a
9	EP300	chr1:144894004-144894013	K562	blood:	n/a	n/a
10	GATA2	chr1:144893718-144894251	K562	blood:	n/a	chr1:144894064-144894077 chr1:144894082-144894089 chr1:144894063-144894079 chr1:144894082-144894091 chr1:144893959-144893973 chr1:144894066-144894076 chr1:144894066-144894075 chr1:144894068-144894075 chr1:144894065-144894077
11	GATA2	chr1:144893751-144894150	HUVEC	blood vessel:	n/a	chr1:144894064-144894077 chr1:144894082-144894089 chr1:144894063-144894079 chr1:144894082-144894091 chr1:144893959-144893973 chr1:144894066-144894076 chr1:144894066-144894075 chr1:144894068-144894075 chr1:144894065-144894077
12	GATA3	chr1:144893754-144894081	T-47D	breast:	n/a	chr1:144894064-144894077 chr1:144894063-144894079 chr1:144894066-144894076 chr1:144894066-144894075 chr1:144894068-144894075 chr1:144894065-144894077
13	GATA3	chr1:144893579-144894196	SK-N-SH	brain:	n/a	chr1:144894064-144894077 chr1:144894082-144894089 chr1:144894063-144894079 chr1:144894082-144894091 chr1:144894066-144894076 chr1:144894066-144894075 chr1:144894068-144894075 chr1:144894065-144894077
14	GATA3	chr1:144907776-144909334	SK-N-SH	brain:	n/a	chr1:144908396-144908408
15	GATA3	chr1:144893840-144894055	MCF-7	breast:	n/a	n/a
16	GATA3	chr1:144893654-144894171	SK-N-SH	brain:	n/a	chr1:144894064-144894077 chr1:144894082-144894089 chr1:144894063-144894079 chr1:144894082-144894091 chr1:144894066-144894076 chr1:144894066-144894075 chr1:144894068-144894075 chr1:144894065-144894077
17	HNF4A	chr1:144893765-144893980	HepG2	liver:	n/a	n/a
18	HNF4A	chr1:144893687-144894043	HepG2	liver:	n/a	n/a
19	IKZF1	chr1:144907705-144907727	GM12878	blood:	n/a	n/a
20	JUND	chr1:144890281-144893598	SK-N-SH	brain:	n/a	n/a
21	JUND	chr1:144905752-144905899	HepG2	liver:	n/a	chr1:144905878-144905889
22	JUND	chr1:144893842-144894105	K562	blood:	n/a	n/a
23	MAFK	chr1:144893841-144894040	K562	blood:	n/a	n/a
24	NFIC	chr1:144907640-144909093	GM12878	blood:	n/a	n/a
25	NFIC	chr1:144907801-144909001	GM12878	blood:	n/a	n/a
26	PAX5	chr1:144907102-144907409	GM12878	blood:	n/a	n/a
27	POLR2A	chr1:144895553-144896381	U87	brain:	n/a	n/a
28	POLR2A	chr1:144895553-144896352	U87	brain:	n/a	n/a
29	POLR2A	chr1:144897576-144897894	K562	blood:	n/a	n/a
30	POLR2A	chr1:144895954-144896718	K562	blood:	n/a	n/a
31	POLR2A	chr1:144901409-144901552	ProgFib	skin:	n/a	n/a
32	POLR2A	chr1:144893698-144894829	K562	blood:	n/a	n/a
33	POLR2A	chr1:144901256-144901299	ProgFib	skin:	n/a	n/a
34	POLR2A	chr1:144896376-144896775	K562	blood:	n/a	n/a
35	POLR2A	chr1:144907463-144907898	ProgFib	skin:	n/a	n/a
36	POLR2A	chr1:144890612-144893573	U87	brain:	n/a	n/a
37	POLR2A	chr1:144894818-144895020	K562	blood:	n/a	n/a
38	POLR2A	chr1:144907627-144909357	HUVEC	blood vessel:	n/a	n/a
39	POLR2A	chr1:144894254-144894689	K562	blood:	n/a	n/a
40	POLR2A	chr1:144893731-144894185	K562	blood:	n/a	n/a
41	POLR2A	chr1:144906435-144906464	ProgFib	skin:	n/a	n/a
42	POLR2A	chr1:144893729-144894262	K562	blood:	n/a	n/a
43	POLR2A	chr1:144893091-144894136	U87	brain:	n/a	n/a
44	POLR2A	chr1:144895380-144896595	K562	blood:	n/a	n/a
45	POLR2A	chr1:144897055-144897615	SK-N-MC	brain:	n/a	n/a
46	POLR2A	chr1:144891078-144894171	U87	brain:	n/a	n/a
47	POLR2A	chr1:144899439-144899752	ProgFib	skin:	n/a	n/a
48	POLR2A	chr1:144902731-144902786	ProgFib	skin:	n/a	n/a
49	POLR2A	chr1:144900873-144901215	K562	blood:	n/a	n/a
50	RCOR1	chr1:144893843-144894208	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:144891214..144893695-chr1:144896100..144898968,2	MCF-7	breast:
2	chr1:144906087..144908086-chr1:144911253..144912912,2	K562	blood:
3	chr1:144895341..144897404-chr1:144905462..144906982,2	MCF-7	breast:
4	chr1:144895504..144897115-chr1:144905432..144907751,3	K562	blood:
5	chr1:144891214..144893695-chr1:144896100..144898968,2	MCF-7	breast:
6	chr1:144894819..144897241-chr1:144898698..144901682,2	K562	blood:
7	chr1:144894819..144897241-chr1:144898698..144901682,2	K562	blood:
8	chr1:144877869..144879998-chr1:144892579..144894748,2	MCF-7	breast:
9	chr1:144893909..144894771-chr8:51229590..51230343,2	MCF-7	breast:
10	chr1:144891477..144893654-chr1:144895299..144897580,2	K562	blood:
11	chr1:144887488..144889062-chr1:144895977..144898603,2	MCF-7	breast:
12	chr1:144895702..144897735-chr1:144904870..144906981,2	MCF-7	breast:
13	chr1:144895702..144897735-chr1:144904870..144906981,2	MCF-7	breast:
14	chr1:144893446..144895237-chr1:144930953..144933183,2	MCF-7	breast:
15	chr1:144895341..144897404-chr1:144905462..144906982,2	MCF-7	breast:
16	chr1:144891477..144893654-chr1:144895299..144897580,2	K562	blood:
17	chr1:144895504..144897115-chr1:144905432..144907751,3	K562	blood:
18	chr1:144892599..144896749-chr1:144930798..144933879,5	MCF-7	breast:
19	chr1:144890884..144894068-chr1:146500995..146504405,3	K562	blood:
20	chr1:144892597..144895392-chr11:118795022..118797131,2	MCF-7	breast:

Variant related genes	Relation type
PDE4DIP	TF binding region
ENSG00000110375	chromatin interactions
ENSG00000178104	chromatin interactions
ENSG00000186174	chromatin interactions

Extended variants
information (count: 421 )
Associated
traits (count: 166 )

Variant overlapped rSNPs/rCNVs (count:421 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587675618	chr1:144893447-144893448	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs587714983	chr1:144893472-144893473	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs587732660	chr1:144893497-144893498	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs587632376	chr1:144893501-144893502	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs587687848	chr1:144893528-144893529	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs587740543	chr1:144893564-144893565	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs113231493	chr1:144893590-144893591	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs111646473	chr1:144893613-144893614	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs587757188	chr1:144893628-144893629	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs199817213	chr1:144893692-144893693	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs587711382	chr1:144893709-144893710	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs587769953	chr1:144893738-144893739	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs587666559	chr1:144893752-144893753	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs587727450	chr1:144893789-144893790	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs587601824	chr1:144893827-144893828	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs587640054	chr1:144893831-144893832	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs587712037	chr1:144893832-144893833	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs587598944	chr1:144893848-144893849	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs587675404	chr1:144893852-144893853	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs587734661	chr1:144893891-144893892	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs113471855	chr1:144893912-144893913	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs587609585	chr1:144893931-144893932	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs1698705	chr1:144893960-144893961	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs587667275	chr1:144894015-144894016	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs587745367	chr1:144894026-144894027	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs587614868	chr1:144894063-144894064	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs1778101	chr1:144894076-144894077	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs587702592	chr1:144894092-144894093	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs3738656	chr1:144894105-144894106	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs587732041	chr1:144894106-144894107	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs10630012	chr1:144894137-144894138	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs33982863	chr1:144894138-144894139	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs80102014	chr1:144894139-144894140	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs587633683	chr1:144894190-144894191	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs587713353	chr1:144894243-144894244	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs587771061	chr1:144894397-144894398	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs587645925	chr1:144894408-144894409	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs35896959	chr1:144894420-144894421	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs143839428	chr1:144894427-144894428	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs191187913	chr1:144894447-144894448	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs587666442	chr1:144894457-144894458	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs587633252	chr1:144894482-144894483	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs376807119	chr1:144894490-144894491	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs587750558	chr1:144894494-144894495	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs113483394	chr1:144894585-144894586	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs611160	chr1:144894611-144894612	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs587712361	chr1:144894630-144894631	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs4649701	chr1:144894697-144894698	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs113863307	chr1:144894713-144894714	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs611680	chr1:144894755-144894756	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:166)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	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
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Neuroblastoma	21124317	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	20970697	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Addison''s disease	21851588	CNVD
Heart disease	22199024	CNVD
Mental retardation	19951919	CNVD
Ovarian cancer	20844748	CNVD
Schizophrenia	21399695	CNVD
Prostate cancer	17217626	CNVD
Congenital heart defect	22199024	CNVD
TAR Syndrome	17847015	CNVD
Thrombocytopenia-absent radius syndrome	17236129	CNVD
Autism	18784092	CNVD
Congenital abnormalities	18784092	CNVD
Mental retardation	18784092	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	19521722	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	19521646	CNVD
Neuroblastoma	19536264	CNVD
Epilepsy	20923578	CNVD
Mental retardation	17124404	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18668039	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19571808	CNVD
Velocardiofacial syndrome	19329560	CNVD
Autism	19955444	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Colorectal cancer	20459617	CNVD
Osteosarcoma	19286668	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17142309	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21509527	CNVD
Williams Syndrome	20824207	CNVD
Tetralogy of Fallot	22912587	CNVD
Autism	18522746	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	20729466	CNVD
Schizophrenia	19197363	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Schizophrenia	23813976	CNVD
Lung adenocarcinoma	21935476	CNVD
idiopathic generalized epilepsy	19843651	CNVD
Schizophrenia	19843651	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Autism	20531469	CNVD

Chromatin state (count:565 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:144850000-144894000	Strong transcription	Stomach Smooth Muscle	stomach
2	chr1:144850400-144894200	Strong transcription	Brain Germinal Matrix	brain
3	chr1:144852200-144913200	Weak transcription	Stomach Mucosa	stomach
4	chr1:144869400-144905000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr1:144874600-144901600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr1:144874800-144906600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr1:144875000-144893600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:144875000-144911000	Weak transcription	Thymus	Thymus
9	chr1:144877400-144902200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:144881400-144904800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr1:144883000-144902600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr1:144883000-144902800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:144883000-144911600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:144883200-144902600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:144887200-144904400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:144887800-144894200	Strong transcription	Primary hematopoietic stem cells	blood
17	chr1:144887800-144894200	Strong transcription	Brain Angular Gyrus	brain
18	chr1:144887800-144902600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr1:144888000-144895400	Weak transcription	Right Atrium	heart
20	chr1:144888000-144902000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr1:144888000-144902400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr1:144888000-144902800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr1:144888000-144908800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr1:144888200-144903800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr1:144888200-144914400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr1:144888800-144894000	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr1:144889000-144893400	Strong transcription	Brain Inferior Temporal Lobe	brain
28	chr1:144889000-144893800	Strong transcription	K562	blood
29	chr1:144889000-144894000	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr1:144889000-144894000	Strong transcription	Brain Hippocampus Middle	brain
31	chr1:144889000-144894200	Strong transcription	Placenta	Placenta
32	chr1:144889000-144894200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
33	chr1:144889000-144896200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr1:144889200-144894200	Strong transcription	Fetal Muscle Leg	muscle
35	chr1:144889200-144896200	Strong transcription	Brain Anterior Caudate	brain
36	chr1:144889400-144894000	Strong transcription	Fetal Brain Female	brain
37	chr1:144889400-144894200	Strong transcription	Left Ventricle	heart
38	chr1:144889400-144894400	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr1:144889600-144893400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr1:144889600-144893800	Strong transcription	Liver	Liver
41	chr1:144889800-144893800	Strong transcription	Fetal Heart	heart
42	chr1:144890000-144893400	Strong transcription	Pancreatic Islets	Pancreatic Islet
43	chr1:144890000-144893400	Genic enhancers	Psoas Muscle	Psoas
44	chr1:144890000-144894000	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr1:144890000-144894200	Strong transcription	Aorta	Aorta
46	chr1:144890000-144894600	Strong transcription	Brain Cingulate Gyrus	brain
47	chr1:144890200-144893400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr1:144890200-144894000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:144890200-144894000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:144890200-144894000	Genic enhancers	HSMM	muscle

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