Variant report

Variant	esv1831165
Chromosome Location	chr1:144094693-144520821
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2495)
CpG islands
(count:673)
Chromatin interactive
region (count:1)
LncRNA
region (count:75)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:2495 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr1:144320981-144321799	GM12878	blood:	n/a	chr1:144321317-144321326
2	BATF	chr1:144327210-144327464	GM12878	blood:	n/a	n/a
3	BATF	chr1:144509096-144509307	GM12878	blood:	n/a	n/a
4	BATF	chr1:144327848-144328102	GM12878	blood:	n/a	n/a
5	BATF	chr1:144094860-144095134	GM12878	blood:	n/a	n/a
6	BATF	chr1:144514091-144514321	GM12878	blood:	n/a	n/a
7	BATF	chr1:144507461-144507711	GM12878	blood:	n/a	n/a
8	BATF	chr1:144340377-144340881	GM12878	blood:	n/a	n/a
9	BATF	chr1:144333140-144333410	GM12878	blood:	n/a	n/a
10	BATF	chr1:144509060-144509281	GM12878	blood:	n/a	n/a
11	BATF	chr1:144325736-144326116	GM12878	blood:	n/a	n/a
12	BATF	chr1:144513389-144513659	GM12878	blood:	n/a	n/a
13	BATF	chr1:144310931-144311678	GM12878	blood:	n/a	n/a
14	BATF	chr1:144503041-144503309	GM12878	blood:	n/a	n/a
15	BATF	chr1:144506111-144506279	GM12878	blood:	n/a	chr1:144506225-144506236
16	BATF	chr1:144312324-144312589	GM12878	blood:	n/a	n/a
17	BATF	chr1:144517018-144517384	GM12878	blood:	n/a	n/a
18	BATF	chr1:144501613-144502087	GM12878	blood:	n/a	n/a
19	BATF	chr1:144328845-144329056	GM12878	blood:	n/a	n/a
20	BATF	chr1:144384899-144385095	GM12878	blood:	n/a	n/a
21	BATF	chr1:144335102-144335314	GM12878	blood:	n/a	n/a
22	BATF	chr1:144343242-144343436	GM12878	blood:	n/a	n/a
23	BATF	chr1:144322789-144323057	GM12878	blood:	n/a	n/a
24	BATF	chr1:144383867-144384453	GM12878	blood:	n/a	n/a
25	BATF	chr1:144310715-144311748	GM12878	blood:	n/a	n/a
26	BATF	chr1:144383148-144383357	GM12878	blood:	n/a	n/a
27	BATF	chr1:144490944-144491993	GM12878	blood:	n/a	n/a
28	BATF	chr1:144393889-144394266	GM12878	blood:	n/a	chr1:144393981-144393992 chr1:144394139-144394149
29	BATF	chr1:144518142-144518372	GM12878	blood:	n/a	n/a
30	BATF	chr1:144333842-144334072	GM12878	blood:	n/a	n/a
31	BATF	chr1:144490172-144490373	GM12878	blood:	n/a	n/a
32	BATF	chr1:144519358-144521451	GM12878	blood:	n/a	n/a
33	BATF	chr1:144355401-144355740	GM12878	blood:	n/a	n/a
34	BATF	chr1:144341397-144342307	GM12878	blood:	n/a	n/a
35	BATF	chr1:144339194-144339724	GM12878	blood:	n/a	n/a
36	BATF	chr1:144339109-144341237	GM12878	blood:	n/a	n/a
37	BATF	chr1:144326880-144327091	GM12878	blood:	n/a	n/a
38	BATF	chr1:144492553-144492818	GM12878	blood:	n/a	n/a
39	BATF	chr1:144321363-144321837	GM12878	blood:	n/a	n/a
40	BATF	chr1:144314152-144314409	GM12878	blood:	n/a	n/a
41	BATF	chr1:144383897-144384409	GM12878	blood:	n/a	n/a
42	BATF	chr1:144519521-144519990	GM12878	blood:	n/a	n/a
43	BATF	chr1:144393767-144394272	GM12878	blood:	n/a	chr1:144393981-144393992 chr1:144394139-144394149
44	BATF	chr1:144328809-144329030	GM12878	blood:	n/a	n/a
45	BATF	chr1:144501231-144502049	GM12878	blood:	n/a	chr1:144501567-144501576
46	BATF	chr1:144520625-144520932	GM12878	blood:	n/a	n/a
47	BATF	chr1:144508099-144508353	GM12878	blood:	n/a	n/a
48	BATF	chr1:144338647-144338871	GM12878	blood:	n/a	n/a
49	BATF	chr1:144389062-144389424	GM12878	blood:	n/a	chr1:144389254-144389265
50	BATF	chr1:144146857-144147088	GM12878	blood:	n/a	n/a

(count:673 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:144520201-144520251	SK-N-SH_RA	brain:	n/a
2	chr1:144489264-144489314	GM06990	blood:	n/a
3	chr1:144520201-144520251	SK-N-SH_RA	brain:	n/a
4	chr1:144489264-144489314	GM06990	blood:	n/a
5	chr1:144513999-144514049	NHDF-neo	bronchial:	n/a
6	chr1:144479586-144479636	HL-60	blood:	n/a
7	chr1:144481939-144481989	NH-A	brain:	n/a
8	chr1:144340161-144340211	NT2-D1	testis:	n/a
9	chr1:144520156-144520206	GM12891	blood:	n/a
10	chr1:144479586-144479636	NH-A	brain:	n/a
11	chr1:144340251-144340301	AG09319	gingival:	n/a
12	chr1:144520201-144520251	GM19239	blood:	n/a
13	chr1:144513999-144514049	NB4	blood:	n/a
14	chr1:144520201-144520251	HRPEpiC	eye:	n/a
15	chr1:144519573-144519623	LNCaP	prostate:	n/a
16	chr1:144481939-144481989	HRE	kidney:	n/a
17	chr1:144340161-144340211	AG04449	skin:	fetal
18	chr1:144340251-144340301	HL-60	blood:	n/a
19	chr1:144519573-144519623	HCF	heart:	n/a
20	chr1:144513999-144514049	HNPCEpiC	eye:	n/a
21	chr1:144519573-144519623	HRPEpiC	eye:	n/a
22	chr1:144520156-144520206	T-47D	breast:	n/a
23	chr1:144489264-144489314	HCF	heart:	n/a
24	chr1:144481939-144481989	SK-N-MC	brain:	n/a
25	chr1:144520201-144520251	RPTEC	kidney:	n/a
26	chr1:144481939-144481989	NHDF-neo	bronchial:	n/a
27	chr1:144479586-144479636	T-47D	breast:	n/a
28	chr1:144340161-144340211	LNCaP	prostate:	n/a
29	chr1:144485590-144485640	HMEC	breast:	n/a
30	chr1:144519573-144519623	HL-60	blood:	n/a
31	chr1:144485590-144485640	IMR90	lung:	fetal
32	chr1:144519573-144519623	GM12878	blood:	n/a
33	chr1:144489264-144489314	AG09319	gingival:	n/a
34	chr1:144513999-144514049	SKMC	muscle:	n/a
35	chr1:144340103-144340153	MCF10A-Er-Src	breast:	n/a
36	chr1:144520201-144520251	AoSMC	blood vessel:	n/a
37	chr1:144479586-144479636	HRE	kidney:	n/a
38	chr1:144519573-144519623	SKMC	muscle:	n/a
39	chr1:144485590-144485640	SK-N-SH	brain:	n/a
40	chr1:144485590-144485640	SAEC	small airway:	n/a
41	chr1:144481939-144481989	ProgFib	skin:	n/a
42	chr1:144479586-144479636	GM06990	blood:	n/a
43	chr1:144481939-144481989	LNCaP	prostate:	n/a
44	chr1:144479586-144479636	SK-N-SH	brain:	n/a
45	chr1:144519573-144519623	HRCEpiC	kidney:	n/a
46	chr1:144519573-144519623	HepG2	liver:	n/a
47	chr1:144513999-144514049	HCF	heart:	n/a
48	chr1:144520156-144520206	HCPEpiC	choroid plexus:	n/a
49	chr1:144481939-144481989	HCM	heart:	n/a
50	chr1:144519573-144519623	HCT-116	colon:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:144519367..144521165-chr1:144533246..144535069,2	K562	blood:

(count:75 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL592284.1-3	chr1:144214429-144214601	NONHSAT005770
2	lnc-PPIAL4B-1	chr1:144301190-144301536	NONHSAT005780
3	lnc-PPIAL4B-1	chr1:144281066-144281169	ENSG00000235398
4	lnc-PPIAL4B-1	chr1:144341670-144341756	ENSG00000235398.4
5	lnc-PPIAL4B-1	chr1:144340526-144340773	NONHSAT005781
6	lnc-PPIAL4B-1	chr1:144340526-144340623	ENSG00000235398
7	lnc-PPIAL4B-2	chr1:144481419-144481765	ENSG00000236943.1
8	lnc-PPIAL4B-1	chr1:144301326-144301536	ENSG00000235398.4
9	lnc-PPIAL4B-1	chr1:144340526-144340623	NONHSAT005782
10	lnc-PPIAL4B-1	chr1:144301325-144301536	ENSG00000235398
11	lnc-PPIAL4B-3	chr1:144392143-144392429	NONHSAT005791
12	lnc-AL592284.1-4	chr1:144167648-144167711	NONHSAT005769
13	lnc-PPIAL4B-2	chr1:144506277-144506436	ENSG00000236943.1
14	lnc-AL592284.1-3	chr1:144212643-144213017	NONHSAT005770
15	lnc-PPIAL4B-2	chr1:144519813-144519867	ENSG00000236943.1
16	lnc-PPIAL4B-1	chr1:144280383-144280629	ENSG00000235398
17	lnc-PPIAL4B-2	chr1:144505804-144505925	ENSG00000236943.1
18	lnc-PPIAL4B-1	chr1:144301350-144301536	NR_109754
19	lnc-PPIAL4B-2	chr1:144460626-144460872	ENSG00000236943.1
20	lnc-PPIAL4B-1	chr1:144300517-144300755	NR_024584
21	lnc-PPIAL4B-1	chr1:144340526-144340773	NR_109754
22	lnc-PPIAL4B-2	chr1:144520774-144520841	ENSG00000236943.1
23	lnc-PPIAL4B-2	chr1:144480744-144481765	ENSG00000236943.1
24	lnc-PPIAL4B-1	chr1:144340526-144340671	ENSG00000235398
25	lnc-AL592284.1-3	chr1:144213727-144213778	NONHSAT005770
26	lnc-PPIAL4B-1	chr1:144339564-144339618	ENSG00000235398
27	lnc-PPIAL4B-2	chr1:144520774-144520871	ENSG00000236943.1
28	lnc-PPIAL4B-1	chr1:144301398-144301536	ENSG00000235398.4
29	lnc-PPIAL4B-1	chr1:144300512-144301536	NONHSAT005781
30	lnc-PPIAL4B-1	chr1:144300512-144300755	NR_109754
31	lnc-PPIAL4B-1	chr1:144301190-144301536	NR_024584
32	lnc-PPIAL4B-1	chr1:144340851-144341057	ENSG00000235398
33	lnc-PPIAL4B-2	chr1:144506091-144506436	ENSG00000236943.1
34	lnc-PPIAL4B-1	chr1:144340526-144340623	ENSG00000235398.4
35	lnc-PPIAL4B-2	chr1:144520774-144520983	ENSG00000236943.1
36	lnc-PPIAL4B-4	chr1:144297622-144297896	expRegAs_chr1_13930_-
37	lnc-PPIAL4B-1	chr1:144340526-144340623	ENSG00000235398.4
38	lnc-PPIAL4B-2	chr1:144481627-144481765	ENSG00000236943.1
39	lnc-PPIAL4B-1	chr1:144300512-144300755	ENSG00000235398
40	lnc-PPIAL4B-1	chr1:144340526-144340593	ENSG00000235398
41	lnc-PPIAL4B-2	chr1:144520774-144520993	ENSG00000236943.1
42	lnc-PPIAL4B-2	chr1:144516419-144516729	ENSG00000236943.1
43	lnc-PPIAL4B-2	chr1:144514874-144519720	NONHSAT005809
44	lnc-PPIAL4B-1	chr1:144300515-144301536	ENSG00000235398
45	lnc-PPIAL4B-2	chr1:144520774-144520871	NONHSAT005803
46	lnc-PPIAL4B-2	chr1:144516478-144516503	ENSG00000236943.1
47	lnc-PPIAL4B-1	chr1:144301190-144301536	ENSG00000235398
48	lnc-PPIAL4B-2	chr1:144506277-144506436	ENSG00000236943.1
49	lnc-PPIAL4B-1	chr1:144340526-144340773	NONHSAT005780
50	lnc-PPIAL4B-1	chr1:144325839-144326185	ENSG00000235398

No data

(count:3 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	NBPF15	hsa-let-7b-5p	chr1:144199965-144199985
2	NBPF15	hsa-let-7b-5p	chr1:144174551-144174571
3	NBPF15	hsa-let-7b-5p	chr1:144166620-144166640

Variant related genes	Relation type
PPIAL4B	TF binding region
ENSG00000271223	TF binding region
RNVU1-4	TF binding region
RNVU1-5	TF binding region
ENSG00000224363	TF binding region
NBPF8	TF binding region
ENSG00000236943	TF binding region
ENSG00000231360	TF binding region
LINC00623	TF binding region
PPIAL4B	CpG island
ENSG00000271223	CpG island
RNVU1-4	CpG island
RNVU1-5	CpG island
ENSG00000224363	CpG island
NBPF8	CpG island
ENSG00000236943	CpG island
ENSG00000231360	CpG island
LINC00623	CpG island
ENSG00000201699	chromatin interactions

Extended variants
information (count: 372 )
Associated
traits (count: 181 )

Variant overlapped rSNPs/rCNVs (count:372 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587715574	chr1:144094703-144094704	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs587771921	chr1:144094722-144094723	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs200123132	chr1:144094787-144094788	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs201014404	chr1:144094792-144094793	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs587672749	chr1:144094814-144094815	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs587704425	chr1:144094889-144094890	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs587754888	chr1:144094896-144094897	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs587638117	chr1:144094900-144094901	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs148621073	chr1:144094915-144094916	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs199983272	chr1:144094963-144094964	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs587711664	chr1:144094988-144094989	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs587603481	chr1:144094991-144094992	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs587659084	chr1:144095032-144095033	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs587714546	chr1:144095033-144095034	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs369904116	chr1:144095061-144095062	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs200919451	chr1:144095109-144095110	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs587609800	chr1:144095172-144095173	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs199620252	chr1:144095180-144095181	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs587657689	chr1:144095202-144095203	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs587745648	chr1:144095292-144095293	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs587598501	chr1:144095314-144095315	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs587662725	chr1:144095316-144095317	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs367790379	chr1:144095357-144095358	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs587762426	chr1:144095409-144095410	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs587637816	chr1:144095514-144095515	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs371857081	chr1:144095590-144095591	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs587717520	chr1:144095694-144095695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs587748209	chr1:144095699-144095700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373773496	chr1:144146384-144146385	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs202228573	chr1:144146710-144146711	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs61801869	chr1:144146719-144146720	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs61801870	chr1:144146761-144146762	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs61801875	chr1:144149841-144149842	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs61801088	chr1:144150166-144150167	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs61801089	chr1:144150217-144150218	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs61801090	chr1:144150253-144150254	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs9728124	chr1:144150348-144150349	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs199899340	chr1:144170346-144170347	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs113337668	chr1:144196324-144196325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs61801150	chr1:144196411-144196412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs199971531	chr1:144196716-144196717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200892911	chr1:144196749-144196750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1977590	chr1:144196838-144196839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs3930669	chr1:144197037-144197038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs3929803	chr1:144197101-144197102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs587725736	chr1:144197106-144197107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs3979062	chr1:144197138-144197139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371730745	chr1:144197155-144197156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375119722	chr1:144197204-144197205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4125362	chr1:144197278-144197279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:181)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
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
early-passage human iPS cells	21368824	CNVD
Schizophrenia	23813976	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Schizophrenia	19197363	CNVD
Dyslexia	22102821	CNVD
Breast cancer	22522925	CNVD
Autism	20808228	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	19805367	CNVD
Lung adenocarcinoma	21935476	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	20967226	CNVD
Autism	20841430	CNVD
idiopathic generalized epilepsy	19843651	CNVD
Schizophrenia	19843651	CNVD
Cancer	17440070	CNVD

Chromatin state (count:268 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:144057600-144096800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:144088800-144096800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:144093400-144095000	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr1:144094400-144095600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr1:144094600-144094800	Enhancers	HUVEC	blood vessel
6	chr1:144094600-144095000	Enhancers	Primary B cells from peripheral blood	blood
7	chr1:144196200-144198600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:144196200-144198600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:144205600-144208000	Weak transcription	Spleen	Spleen
10	chr1:144312400-144312800	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr1:144312400-144312800	Enhancers	Fetal Thymus	thymus
12	chr1:144330200-144330400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:144339800-144340400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
14	chr1:144339800-144340400	Active TSS	Fetal Brain Female	brain
15	chr1:144339800-144340400	Active TSS	HMEC	breast
16	chr1:144340000-144340400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:144340000-144340400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:144340000-144340400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:144340000-144340400	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr1:144340000-144340400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:144340000-144340400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:144340000-144340400	Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr1:144340000-144340400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr1:144340000-144340400	Active TSS	Brain Germinal Matrix	brain
25	chr1:144340000-144340400	Active TSS	Placenta	Placenta
26	chr1:144340000-144340400	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr1:144340000-144340400	Active TSS	Rectal Smooth Muscle	rectum
28	chr1:144340000-144340400	Active TSS	Stomach Smooth Muscle	stomach
29	chr1:144481000-144481200	ZNF genes & repeats	Lung	lung
30	chr1:144481000-144481400	Active TSS	H1 Cell Line	embryonic stem cell
31	chr1:144481000-144481400	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr1:144481000-144481400	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr1:144481000-144481400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr1:144481000-144481400	Active TSS	Primary T cells fromperipheralblood	blood
35	chr1:144481000-144481400	Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr1:144481000-144481400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr1:144481000-144481400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:144481000-144481400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:144481000-144481400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:144481000-144481400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:144481000-144481400	Active TSS	Brain Germinal Matrix	brain
42	chr1:144481000-144481400	Active TSS	Fetal Brain Female	brain
43	chr1:144481000-144481400	Active TSS	Fetal Intestine Small	intestine
44	chr1:144481000-144481400	Active TSS	Thymus	Thymus
45	chr1:144481000-144481400	Active TSS	Monocytes-CD14+_RO01746	blood
46	chr1:144491800-144492200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr1:144491800-144492200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:144491800-144492200	Active TSS	Fetal Thymus	thymus
49	chr1:144491800-144492200	Active TSS	Monocytes-CD14+_RO01746	blood
50	chr1:144491800-144492200	Active TSS	Osteobl	bone

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