Variant report

Variant	nsv461661
Chromosome Location	chr1:63441761-63609387
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	chr1:63590486-63590731	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:63481440-63481604	HepG2	liver:	n/a	n/a
3	ATF1	chr1:63484955-63485026	K562	blood:	n/a	n/a
4	ATF1	chr1:63587751-63588059	K562	blood:	n/a	n/a
5	ATF2	chr1:63590467-63590998	GM12878	blood:	n/a	n/a
6	BACH1	chr1:63466234-63466493	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr1:63579632-63579680	K562	blood:	n/a	n/a
8	BACH1	chr1:63456994-63457178	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr1:63537254-63537322	K562	blood:	n/a	n/a
10	BATF	chr1:63587637-63587852	GM12878	blood:	n/a	chr1:63587748-63587757
11	BATF	chr1:63577806-63578119	GM12878	blood:	n/a	chr1:63577996-63578007
12	BATF	chr1:63590597-63590889	GM12878	blood:	n/a	chr1:63590757-63590768
13	BATF	chr1:63590547-63590922	GM12878	blood:	n/a	chr1:63590757-63590768
14	BCL3	chr1:63577822-63578069	GM12878	blood:	n/a	n/a
15	CEBPB	chr1:63581788-63582013	H1-hESC	embryonic stem cell:	n/a	chr1:63581895-63581906
16	CEBPB	chr1:63534262-63534633	IMR90	lung:	n/a	chr1:63534436-63534447
17	CEBPB	chr1:63534281-63534614	A549	lung:	n/a	chr1:63534436-63534447
18	CEBPB	chr1:63534329-63534632	MCF-7	breast:	n/a	chr1:63534436-63534447
19	CEBPB	chr1:63561439-63561611	HepG2	liver:	n/a	n/a
20	CEBPB	chr1:63534241-63534606	ECC-1	luminal epithelium:	n/a	chr1:63534436-63534447
21	CEBPB	chr1:63464426-63464723	HepG2	liver:	n/a	n/a
22	CEBPB	chr1:63534250-63534639	K562	blood:	n/a	chr1:63534436-63534447
23	CEBPB	chr1:63565681-63565913	IMR90	lung:	n/a	chr1:63565788-63565799 chr1:63565787-63565798
24	CEBPB	chr1:63581742-63582046	IMR90	lung:	n/a	chr1:63581895-63581906
25	CEBPB	chr1:63534281-63534632	Hela-S3	cervix:	n/a	chr1:63534436-63534447
26	CEBPB	chr1:63581728-63582049	HepG2	liver:	n/a	chr1:63581895-63581906
27	CEBPB	chr1:63453811-63454119	H1-hESC	embryonic stem cell:	n/a	chr1:63453959-63453972 chr1:63453961-63453970 chr1:63453961-63453970 chr1:63453959-63453970 chr1:63453961-63453972 chr1:63453961-63453970 chr1:63453961-63453972 chr1:63453959-63453972 chr1:63453961-63453970 chr1:63453959-63453972
28	CEBPB	chr1:63534340-63534501	HepG2	liver:	n/a	chr1:63534436-63534447
29	CEBPB	chr1:63581742-63582039	A549	lung:	n/a	chr1:63581895-63581906
30	CEBPB	chr1:63534273-63534628	A549	lung:	n/a	chr1:63534436-63534447
31	CEBPB	chr1:63534316-63534620	K562	blood:	n/a	chr1:63534436-63534447
32	CEBPB	chr1:63534243-63534633	H1-hESC	embryonic stem cell:	n/a	chr1:63534436-63534447
33	CEBPB	chr1:63539370-63539742	H1-hESC	embryonic stem cell:	n/a	n/a
34	CEBPB	chr1:63565656-63565901	HepG2	liver:	n/a	chr1:63565788-63565799 chr1:63565787-63565798
35	CEBPB	chr1:63453813-63454144	IMR90	lung:	n/a	chr1:63453959-63453972 chr1:63453961-63453970 chr1:63453961-63453970 chr1:63453959-63453970 chr1:63453961-63453972 chr1:63453961-63453970 chr1:63453961-63453972 chr1:63453959-63453972 chr1:63453961-63453970 chr1:63453959-63453972
36	CEBPB	chr1:63484126-63484200	HepG2	liver:	n/a	chr1:63484153-63484164
37	CEBPB	chr1:63464467-63464566	H1-hESC	embryonic stem cell:	n/a	n/a
38	CEBPB	chr1:63498933-63499138	K562	blood:	n/a	n/a
39	CEBPB	chr1:63477915-63478408	HepG2	liver:	n/a	chr1:63477920-63477933
40	CEBPB	chr1:63534198-63534701	A549	lung:	n/a	chr1:63534436-63534447
41	CEBPB	chr1:63606073-63606195	K562	blood:	n/a	n/a
42	CEBPB	chr1:63534263-63534632	MCF-7	breast:	n/a	chr1:63534436-63534447
43	CEBPB	chr1:63505250-63505503	HepG2	liver:	n/a	n/a
44	CEBPB	chr1:63478148-63478291	HepG2	liver:	n/a	n/a
45	CEBPB	chr1:63453863-63454097	MCF-7	breast:	n/a	chr1:63453959-63453972 chr1:63453961-63453970 chr1:63453961-63453970 chr1:63453959-63453970 chr1:63453961-63453972 chr1:63453961-63453970 chr1:63453961-63453972 chr1:63453959-63453972 chr1:63453961-63453970 chr1:63453959-63453972
46	CEBPB	chr1:63453782-63454125	HepG2	liver:	n/a	chr1:63453959-63453972 chr1:63453961-63453970 chr1:63453961-63453970 chr1:63453959-63453970 chr1:63453961-63453972 chr1:63453961-63453970 chr1:63453961-63453972 chr1:63453959-63453972 chr1:63453961-63453970 chr1:63453959-63453972
47	CEBPB	chr1:63534258-63534627	HepG2	liver:	n/a	chr1:63534436-63534447
48	CEBPB	chr1:63565776-63565779	H1-hESC	embryonic stem cell:	n/a	n/a
49	CEBPB	chr1:63453824-63454136	A549	lung:	n/a	chr1:63453959-63453972 chr1:63453961-63453970 chr1:63453961-63453970 chr1:63453959-63453970 chr1:63453961-63453972 chr1:63453961-63453970 chr1:63453961-63453972 chr1:63453959-63453972 chr1:63453961-63453970 chr1:63453959-63453972
50	CEBPB	chr1:63453797-63454140	K562	blood:	n/a	chr1:63453959-63453972 chr1:63453961-63453970 chr1:63453961-63453970 chr1:63453959-63453970 chr1:63453961-63453972 chr1:63453961-63453970 chr1:63453961-63453972 chr1:63453959-63453972 chr1:63453961-63453970 chr1:63453959-63453972

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:63571356-63571406	H1-hESC	embryonic stem cell:	embryo
2	chr1:63571356-63571406	H1-hESC	embryonic stem cell:	embryo
3	chr1:63539729-63539779	BJ	skin:	n/a
4	chr1:63539613-63539663	GM12878	blood:	n/a
5	chr1:63464679-63464729	ECC-1	luminal epithelium:	n/a
6	chr1:63457296-63457346	HepG2	liver:	n/a
7	chr1:63464679-63464729	GM06990	blood:	n/a
8	chr1:63539729-63539779	SK-N-SH_RA	brain:	n/a
9	chr1:63539613-63539663	LNCaP	prostate:	n/a
10	chr1:63457296-63457346	ECC-1	luminal epithelium:	n/a
11	chr1:63540217-63540267	HIPEpiC	eye:	n/a
12	chr1:63457296-63457346	T-47D	breast:	n/a
13	chr1:63540205-63540255	ECC-1	luminal epithelium:	n/a
14	chr1:63464679-63464729	SKMC	muscle:	n/a
15	chr1:63539729-63539779	HIPEpiC	eye:	n/a
16	chr1:63540205-63540255	SK-N-SH	brain:	n/a
17	chr1:63539729-63539779	AG10803	skin:	n/a
18	chr1:63457296-63457346	HPAEpiC	pulmonary alveolar:	n/a
19	chr1:63540217-63540267	HRE	kidney:	n/a
20	chr1:63539873-63539923	HCPEpiC	choroid plexus:	n/a
21	chr1:63540217-63540267	SK-N-SH_RA	brain:	n/a
22	chr1:63539613-63539663	NHDF-neo	bronchial:	n/a
23	chr1:63540217-63540267	AG09309	skin:	n/a
24	chr1:63464679-63464729	HepG2	liver:	n/a
25	chr1:63539873-63539923	NHDF-neo	bronchial:	n/a
26	chr1:63539729-63539779	HL-60	blood:	n/a
27	chr1:63457296-63457346	BJ	skin:	n/a
28	chr1:63457296-63457346	MCF10A-Er-Src	breast:	n/a
29	chr1:63540217-63540267	SK-N-MC	brain:	n/a
30	chr1:63457296-63457346	AG04449	skin:	fetal
31	chr1:63540205-63540255	NT2-D1	testis:	n/a
32	chr1:63540205-63540255	ProgFib	skin:	n/a
33	chr1:63457296-63457346	H1-hESC	embryonic stem cell:	embryo
34	chr1:63571356-63571406	NB4	blood:	n/a
35	chr1:63571356-63571406	K562	blood:	n/a
36	chr1:63540205-63540255	GM19239	blood:	n/a
37	chr1:63464679-63464729	T-47D	breast:	n/a
38	chr1:63539873-63539923	HPAEpiC	pulmonary alveolar:	n/a
39	chr1:63539873-63539923	AG10803	skin:	n/a
40	chr1:63540217-63540267	PFSK-1	brain:	n/a
41	chr1:63539873-63539923	AG04450	lung:	fetal
42	chr1:63539873-63539923	Hela-S3	cervix:	n/a
43	chr1:63539873-63539923	AoSMC	blood vessel:	n/a
44	chr1:63539613-63539663	CMK	blood:	n/a
45	chr1:63540217-63540267	BJ	skin:	n/a
46	chr1:63466707-63466757	HRCEpiC	kidney:	n/a
47	chr1:63571356-63571406	GM19239	blood:	n/a
48	chr1:63457296-63457346	HMEC	breast:	n/a
49	chr1:63466707-63466757	U87	brain:	n/a
50	chr1:63539613-63539663	HEK293	kidney:	embryo

No.	Distal block	Cell Line	Cell type
1	chr1:63577832..63580180-chr1:63617272..63619794,2	MCF-7	breast:
2	chr1:63449158..63452125-chr1:63453992..63456042,2	K562	blood:
3	chr1:63514661..63516542-chr1:63519183..63521519,2	K562	blood:
4	chr1:63460944..63463320-chr1:63464866..63467278,2	MCF-7	breast:
5	chr1:63449158..63452125-chr1:63453992..63456042,2	K562	blood:
6	chr1:63306962..63307948-chr1:63455117..63455729,2	MCF-7	breast:
7	chr1:63465009..63465619-chr4:18102338..18103085,2	MCF-7	breast:
8	chr1:63470306..63471213-chr1:63614433..63615672,4	MCF-7	breast:
9	chr1:63459764..63462718-chr1:63464961..63468406,4	K562	blood:
10	chr1:63514661..63516542-chr1:63519183..63521519,2	K562	blood:
11	chr1:63563848..63566657-chr1:63583740..63586220,2	K562	blood:
12	chr1:63460944..63463320-chr1:63464866..63467278,2	MCF-7	breast:
13	chr1:63459871..63461877-chr1:63466416..63469144,2	K562	blood:
14	chr1:63459871..63461877-chr1:63466416..63469144,2	K562	blood:
15	chr1:63459764..63462718-chr1:63464961..63468406,4	K562	blood:
16	chr1:63563848..63566657-chr1:63583740..63586220,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DOCK7-1	chr1:63466168-63466474	XLOC_000857
2	lnc-ITGB3BP-9	chr1:63559884-63560203	l_68_chr1:63559140-63560715_76bGuttman_hES
3	lnc-DOCK7-1	chr1:63466168-63466474	XLOC_000857
4	lnc-DOCK7-1	chr1:63478005-63478142	XLOC_000857
5	lnc-ATG4C-3	chr1:63489878-63489981	XLOC_000230
6	lnc-DOCK7-1	chr1:63466168-63466474	XLOC_000857
7	lnc-DOCK7-4	chr1:63519904-63520265	NONHSAT003652
8	lnc-ATG4C-3	chr1:63489715-63490030	NONHSAT003650
9	lnc-ITGB3BP-9	chr1:63560575-63560715	l_68_chr1:63559140-63560715_76bGuttman_hES
10	lnc-ITGB3BP-9	chr1:63559141-63559449	l_68_chr1:63559140-63560715_76bGuttman_hES
11	lnc-FOXD3-3	chr1:63604921-63605168	XLOC_000231
12	lnc-ITGB3BP-3	chr1:63543752-63543776	ENSG00000229225
13	lnc-ITGB3BP-3	chr1:63544571-63544702	ENSG00000229225
14	lnc-DOCK7-5	chr1:63542954-63543005	ucscGeneNc_uc001daw_1
15	lnc-DOCK7-1	chr1:63476549-63476596	XLOC_000857
16	lnc-ATG4C-3	chr1:63491075-63491329	XLOC_000230
17	lnc-DOCK7-5	chr1:63496244-63496309	ucscGeneNc_uc001daw_1
18	lnc-ATG4C-3	chr1:63488282-63488719	NONHSAT003650
19	lnc-ITGB3BP-9	chr1:63559559-63559722	l_68_chr1:63559140-63560715_76bGuttman_hES
20	lnc-DOCK7-4	chr1:63520365-63520399	NONHSAT003652
21	lnc-DOCK7-1	chr1:63476757-63476939	XLOC_000857
22	lnc-DOCK7-5	chr1:63554208-63554346	ucscGeneNc_uc001daw_1
23	lnc-DOCK7-5	chr1:63555317-63555489	ucscGeneNc_uc001daw_1

Variant related genes	Relation type
ENSG00000203605	TF binding region
ENSG00000227485	TF binding region
ENSG00000229225	TF binding region
ENSG00000229537	TF binding region
ENSG00000203605	CpG island
ENSG00000227485	CpG island
ENSG00000229225	CpG island
ENSG00000229537	CpG island
CHSY1	miRNA target sites
C9orf78	miRNA target sites

Extended variants
information (count: 4779 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:4779 , 50 per page) page: 1 2 3 4 5 6 7 ... 96

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2150031	chr1:63441761-63441762	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs542375974	chr1:63441763-63441764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563751655	chr1:63441771-63441772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575461539	chr1:63441809-63441810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs193159585	chr1:63441849-63441850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147593850	chr1:63441852-63441853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528071461	chr1:63441861-63441862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561756954	chr1:63441882-63441883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546280967	chr1:63441885-63441886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140261101	chr1:63441897-63441898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184702760	chr1:63441920-63441921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528859530	chr1:63441977-63441978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550721114	chr1:63442009-63442010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144238348	chr1:63442017-63442018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539687097	chr1:63442037-63442038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374846867	chr1:63442051-63442052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2150032	chr1:63442052-63442053	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs371960098	chr1:63442057-63442058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566779054	chr1:63442062-63442063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375901807	chr1:63442064-63442065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534978785	chr1:63442073-63442074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12093043	chr1:63442102-63442103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs58691879	chr1:63442110-63442111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550035450	chr1:63442166-63442167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375892011	chr1:63442210-63442211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12142389	chr1:63442211-63442212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575422768	chr1:63442212-63442213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533168496	chr1:63442226-63442227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187139823	chr1:63442261-63442262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191185021	chr1:63442293-63442294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551640801	chr1:63442296-63442297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573467524	chr1:63442334-63442335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183525051	chr1:63442335-63442336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561549408	chr1:63442413-63442414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530608477	chr1:63442459-63442460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369087721	chr1:63442472-63442473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368580873	chr1:63442494-63442495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543965891	chr1:63442519-63442520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188215693	chr1:63442526-63442527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566544001	chr1:63442528-63442529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373008989	chr1:63442537-63442538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35905052	chr1:63442547-63442548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533116590	chr1:63442550-63442551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551614260	chr1:63442560-63442561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566740134	chr1:63442565-63442566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527620194	chr1:63442625-63442626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs151110287	chr1:63442686-63442687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs61396801	chr1:63442712-63442713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377067391	chr1:63442714-63442715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549288689	chr1:63442723-63442724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	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
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Breast cancer	16620391	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
CNS Malformation Syndrome	17530927	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Colorectal cancer	20459617	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Glioma	20126413	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
lymphocytic leukemia	21291569	CNVD

Chromatin state (count:777 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:63440600-63442800	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr1:63440800-63443200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:63440800-63443200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr1:63441000-63443200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:63442800-63444000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr1:63443000-63444000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:63443200-63443800	Enhancers	Fetal Brain Female	brain
8	chr1:63443200-63444000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr1:63443200-63444000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr1:63443200-63444200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:63443200-63444800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr1:63443400-63444000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr1:63443400-63444200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:63443600-63444000	Enhancers	Fetal Kidney	kidney
15	chr1:63444000-63444400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr1:63444200-63447200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:63444400-63445200	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr1:63444600-63444800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:63447200-63448600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:63456000-63456200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:63456200-63456800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr1:63456600-63457200	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr1:63456600-63457400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:63456600-63457400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr1:63456600-63457600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:63456600-63457600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr1:63456600-63457600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr1:63456600-63457800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr1:63456800-63457400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr1:63457200-63457400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr1:63457200-63466000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr1:63457400-63461600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:63457400-63465800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr1:63457600-63466000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr1:63459800-63460000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:63460800-63461000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:63461000-63470200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr1:63461600-63462000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr1:63462000-63464200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:63463800-63464200	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr1:63463800-63464200	Enhancers	H1 Cell Line	embryonic stem cell
42	chr1:63463800-63464200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:63463800-63464200	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr1:63463800-63464200	Bivalent Enhancer	Fetal Intestine Large	intestine
45	chr1:63463800-63464400	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr1:63463800-63464400	Enhancers	Fetal Brain Female	brain
47	chr1:63464000-63464200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr1:63464000-63464200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:63464000-63464400	Enhancers	Fetal Brain Male	brain
50	chr1:63464000-63464800	Enhancers	H9 Cell Line	embryonic stem cell

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