Variant report

Variant	nsv1000266
Chromosome Location	chr1:57291371-57319480
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	chr1:57301424-57301809	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:57297569-57298364	HepG2	liver:	n/a	n/a
3	ATF1	chr1:57310448-57310599	K562	blood:	n/a	n/a
4	BHLHE40	chr1:57297652-57297893	K562	blood:	n/a	n/a
5	CEBPB	chr1:57297661-57298424	IMR90	lung:	n/a	chr1:57298131-57298139
6	CEBPB	chr1:57298091-57298303	HepG2	liver:	n/a	chr1:57298131-57298139
7	CEBPB	chr1:57307693-57307733	HepG2	liver:	n/a	n/a
8	CEBPB	chr1:57301410-57301725	HepG2	liver:	n/a	n/a
9	CHD1	chr1:57296729-57299298	IMR90	lung:	n/a	n/a
10	CTCF	chr1:57297580-57297866	Gliobla	brain:	n/a	chr1:57297735-57297748 chr1:57297733-57297749 chr1:57297732-57297750 chr1:57297735-57297744 chr1:57297734-57297755 chr1:57297737-57297747
11	CTCF	chr1:57297200-57297350	GM06990	blood:	n/a	n/a
12	CTCF	chr1:57297680-57297830	BE2_C	brain:	n/a	chr1:57297735-57297748 chr1:57297733-57297749 chr1:57297732-57297750 chr1:57297735-57297744 chr1:57297734-57297755 chr1:57297737-57297747
13	CTCF	chr1:57297660-57297810	HFF	foreskin:	n/a	chr1:57297735-57297748 chr1:57297733-57297749 chr1:57297732-57297750 chr1:57297735-57297744 chr1:57297734-57297755 chr1:57297737-57297747
14	CTCF	chr1:57297620-57297770	GM12875	blood:	n/a	chr1:57297735-57297748 chr1:57297733-57297749 chr1:57297732-57297750 chr1:57297735-57297744 chr1:57297734-57297755 chr1:57297737-57297747
15	CTCF	chr1:57297040-57297190	GM12871	blood:	n/a	n/a
16	CTCF	chr1:57297485-57297997	MCF-7	breast:	n/a	chr1:57297735-57297748 chr1:57297733-57297749 chr1:57297732-57297750 chr1:57297735-57297744 chr1:57297734-57297755 chr1:57297737-57297747
17	CTCF	chr1:57297401-57298078	HCT-116	colon:	n/a	chr1:57297735-57297748 chr1:57297733-57297749 chr1:57297732-57297750 chr1:57297735-57297744 chr1:57297734-57297755 chr1:57297737-57297747
18	CTCF	chr1:57297780-57297930	A549	lung:	n/a	n/a
19	CTCF	chr1:57297640-57297790	WERI-Rb-1	eye:	n/a	chr1:57297735-57297748 chr1:57297733-57297749 chr1:57297732-57297750 chr1:57297735-57297744 chr1:57297734-57297755 chr1:57297737-57297747
20	CTCF	chr1:57297660-57297810	HEEpiC	esophagus:	n/a	chr1:57297735-57297748 chr1:57297733-57297749 chr1:57297732-57297750 chr1:57297735-57297744 chr1:57297734-57297755 chr1:57297737-57297747
21	CTCF	chr1:57298860-57299010	NHDF-neo	bronchial:	n/a	n/a
22	CTCF	chr1:57297660-57297810	Hela-S3	cervix:	n/a	chr1:57297735-57297748 chr1:57297733-57297749 chr1:57297732-57297750 chr1:57297735-57297744 chr1:57297734-57297755 chr1:57297737-57297747
23	CTCF	chr1:57303200-57303350	RPTEC	kidney:	n/a	n/a
24	CTCF	chr1:57297632-57297813	SK-N-SH_RA	brain:	n/a	chr1:57297735-57297748 chr1:57297733-57297749 chr1:57297732-57297750 chr1:57297735-57297744 chr1:57297734-57297755 chr1:57297737-57297747
25	CTCF	chr1:57297680-57297830	HPAF	blood vessel:	n/a	chr1:57297735-57297748 chr1:57297733-57297749 chr1:57297732-57297750 chr1:57297735-57297744 chr1:57297734-57297755 chr1:57297737-57297747
26	CTCF	chr1:57297160-57297310	HPF	lung:	n/a	n/a
27	CTCF	chr1:57297680-57297830	AG09309	skin:	n/a	chr1:57297735-57297748 chr1:57297733-57297749 chr1:57297732-57297750 chr1:57297735-57297744 chr1:57297734-57297755 chr1:57297737-57297747
28	CTCF	chr1:57297660-57297810	MCF-7	breast:	n/a	chr1:57297735-57297748 chr1:57297733-57297749 chr1:57297732-57297750 chr1:57297735-57297744 chr1:57297734-57297755 chr1:57297737-57297747
29	CTCF	chr1:57297260-57297410	GM12873	blood:	n/a	n/a
30	CTCF	chr1:57297120-57297270	GM12872	blood:	n/a	n/a
31	CTCF	chr1:57297680-57297830	HMEC	breast:	n/a	chr1:57297735-57297748 chr1:57297733-57297749 chr1:57297732-57297750 chr1:57297735-57297744 chr1:57297734-57297755 chr1:57297737-57297747
32	CTCF	chr1:57297585-57297874	Kidney_OC	kidney:	n/a	chr1:57297735-57297748 chr1:57297733-57297749 chr1:57297732-57297750 chr1:57297735-57297744 chr1:57297734-57297755 chr1:57297737-57297747
33	CTCF	chr1:57297660-57297810	HMF	breast:	n/a	chr1:57297735-57297748 chr1:57297733-57297749 chr1:57297732-57297750 chr1:57297735-57297744 chr1:57297734-57297755 chr1:57297737-57297747
34	CTCF	chr1:57297700-57297850	GM12878	blood:	n/a	chr1:57297735-57297748 chr1:57297733-57297749 chr1:57297732-57297750 chr1:57297735-57297744 chr1:57297734-57297755 chr1:57297737-57297747
35	CTCF	chr1:57297523-57297923	K562	blood:	n/a	chr1:57297735-57297748 chr1:57297733-57297749 chr1:57297732-57297750 chr1:57297735-57297744 chr1:57297734-57297755 chr1:57297737-57297747
36	CTCF	chr1:57298864-57299006	HepG2	liver:	n/a	n/a
37	CTCF	chr1:57297528-57297872	K562	blood:	n/a	chr1:57297735-57297748 chr1:57297733-57297749 chr1:57297732-57297750 chr1:57297735-57297744 chr1:57297734-57297755 chr1:57297737-57297747
38	CTCF	chr1:57297680-57297830	HBMEC	blood vessel:	n/a	chr1:57297735-57297748 chr1:57297733-57297749 chr1:57297732-57297750 chr1:57297735-57297744 chr1:57297734-57297755 chr1:57297737-57297747
39	CTCF	chr1:57297680-57297830	GM12866	blood:	n/a	chr1:57297735-57297748 chr1:57297733-57297749 chr1:57297732-57297750 chr1:57297735-57297744 chr1:57297734-57297755 chr1:57297737-57297747
40	CTCF	chr1:57297529-57297837	K562	blood:	n/a	chr1:57297735-57297748 chr1:57297733-57297749 chr1:57297732-57297750 chr1:57297735-57297744 chr1:57297734-57297755 chr1:57297737-57297747
41	CTCF	chr1:57297680-57297830	AoAF	blood vessel:	n/a	chr1:57297735-57297748 chr1:57297733-57297749 chr1:57297732-57297750 chr1:57297735-57297744 chr1:57297734-57297755 chr1:57297737-57297747
42	CTCF	chr1:57297575-57297936	ECC-1	luminal epithelium:	n/a	chr1:57297735-57297748 chr1:57297733-57297749 chr1:57297732-57297750 chr1:57297735-57297744 chr1:57297734-57297755 chr1:57297737-57297747
43	CTCF	chr1:57297680-57297830	SK-N-SH_RA	brain:	n/a	chr1:57297735-57297748 chr1:57297733-57297749 chr1:57297732-57297750 chr1:57297735-57297744 chr1:57297734-57297755 chr1:57297737-57297747
44	CTCF	chr1:57297680-57297830	HCFaa	heart:	n/a	chr1:57297735-57297748 chr1:57297733-57297749 chr1:57297732-57297750 chr1:57297735-57297744 chr1:57297734-57297755 chr1:57297737-57297747
45	CTCF	chr1:57297660-57297810	HCT-116	colon:	n/a	chr1:57297735-57297748 chr1:57297733-57297749 chr1:57297732-57297750 chr1:57297735-57297744 chr1:57297734-57297755 chr1:57297737-57297747
46	CTCF	chr1:57297640-57297790	NHDF-neo	bronchial:	n/a	chr1:57297735-57297748 chr1:57297733-57297749 chr1:57297732-57297750 chr1:57297735-57297744 chr1:57297734-57297755 chr1:57297737-57297747
47	CTCF	chr1:57297660-57297810	GM12875	blood:	n/a	chr1:57297735-57297748 chr1:57297733-57297749 chr1:57297732-57297750 chr1:57297735-57297744 chr1:57297734-57297755 chr1:57297737-57297747
48	CTCF	chr1:57297680-57297830	HEEpiC	esophagus:	n/a	chr1:57297735-57297748 chr1:57297733-57297749 chr1:57297732-57297750 chr1:57297735-57297744 chr1:57297734-57297755 chr1:57297737-57297747
49	CTCF	chr1:57297660-57297810	HCM	heart:	n/a	chr1:57297735-57297748 chr1:57297733-57297749 chr1:57297732-57297750 chr1:57297735-57297744 chr1:57297734-57297755 chr1:57297737-57297747
50	CTCF	chr1:57297589-57297872	A549	lung:	n/a	chr1:57297735-57297748 chr1:57297733-57297749 chr1:57297732-57297750 chr1:57297735-57297744 chr1:57297734-57297755 chr1:57297737-57297747

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:57319350-57319400	NB4	blood:	n/a
2	chr1:57294085-57294135	Hepatocyte	liver:	n/a
3	chr1:57297710-57297760	HPAEpiC	pulmonary alveolar:	n/a
4	chr1:57319350-57319400	AG04449	skin:	fetal
5	chr1:57297710-57297760	GM06990	blood:	n/a
6	chr1:57293848-57293898	HRE	kidney:	n/a
7	chr1:57315465-57315515	HRPEpiC	eye:	n/a
8	chr1:57319350-57319400	HUVEC	blood vessel:	n/a
9	chr1:57297710-57297760	GM19239	blood:	n/a
10	chr1:57315465-57315515	AoSMC	blood vessel:	n/a
11	chr1:57297710-57297760	HL-60	blood:	n/a
12	chr1:57294085-57294135	AG09309	skin:	n/a
13	chr1:57293848-57293898	SKMC	muscle:	n/a
14	chr1:57297710-57297760	NT2-D1	testis:	n/a
15	chr1:57315465-57315515	BJ	skin:	n/a
16	chr1:57297710-57297760	HEK293	kidney:	embryo
17	chr1:57297710-57297760	HEEpiC	esophagus:	n/a
18	chr1:57293848-57293898	SK-N-MC	brain:	n/a
19	chr1:57293848-57293898	H1-hESC	embryonic stem cell:	embryo
20	chr1:57319350-57319400	NHBE	bronchial:	n/a
21	chr1:57315465-57315515	HCT-116	colon:	n/a
22	chr1:57297710-57297760	NB4	blood:	n/a
23	chr1:57319350-57319400	A549	lung:	n/a
24	chr1:57315465-57315515	K562	blood:	n/a
25	chr1:57315465-57315515	NB4	blood:	n/a
26	chr1:57319350-57319400	SKMC	muscle:	n/a
27	chr1:57297710-57297760	AG09319	gingival:	n/a
28	chr1:57315465-57315515	HEK293	kidney:	embryo
29	chr1:57315465-57315515	MCF-7	breast:	n/a
30	chr1:57297710-57297760	AG10803	skin:	n/a
31	chr1:57319350-57319400	BE2_C	brain:	n/a
32	chr1:57297710-57297760	PrEC	prostate:	n/a
33	chr1:57315465-57315515	HIPEpiC	eye:	n/a
34	chr1:57319350-57319400	PrEC	prostate:	n/a
35	chr1:57297710-57297760	IMR90	lung:	fetal
36	chr1:57319350-57319400	ovcar-3	ovarian:	n/a
37	chr1:57293848-57293898	HRCEpiC	kidney:	n/a
38	chr1:57293848-57293898	SAEC	small airway:	n/a
39	chr1:57293848-57293898	Hepatocyte	liver:	n/a
40	chr1:57293848-57293898	NB4	blood:	n/a
41	chr1:57294085-57294135	HRPEpiC	eye:	n/a
42	chr1:57315465-57315515	H1-hESC	embryonic stem cell:	embryo
43	chr1:57319350-57319400	IMR90	lung:	fetal
44	chr1:57315465-57315515	PANC-1	pancreas:	n/a
45	chr1:57319350-57319400	HMEC	breast:	n/a
46	chr1:57297710-57297760	Caco-2	colon:	n/a
47	chr1:57319350-57319400	K562	blood:	n/a
48	chr1:57293848-57293898	HCM	heart:	n/a
49	chr1:57297710-57297760	NH-A	brain:	n/a
50	chr1:57293848-57293898	IMR90	lung:	fetal

No.	Distal block	Cell Line	Cell type
1	chr1:57297206..57298203-chr1:57526862..57527650,4	MCF-7	breast:
2	chr1:57287548..57290012-chr1:57292988..57294637,2	K562	blood:
3	chr1:57297472..57298243-chr1:57433673..57434606,3	K562	blood:
4	chr1:57297262..57298223-chr1:58512647..58513594,3	MCF-7	breast:
5	chr1:57297286..57298183-chr1:57433634..57434688,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1orf168-1	chr1:57292238-57292593	XLOC_000847
2	lnc-C1orf168-1	chr1:57292238-57292593	ENSG00000229913.1

Variant related genes	Relation type
C8A	TF binding region
ENSG00000229913	TF binding region
C8A	CpG island
ENSG00000229913	CpG island

Extended variants
information (count: 1157 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:1157 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10889020	chr1:57291371-57291372	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs138556949	chr1:57291388-57291389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142909957	chr1:57291470-57291471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191437346	chr1:57291500-57291501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573939478	chr1:57291509-57291510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542803106	chr1:57291512-57291513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12048846	chr1:57291520-57291521	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs138996202	chr1:57291521-57291522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs947636	chr1:57291548-57291549	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs544805549	chr1:57291559-57291560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142265981	chr1:57291599-57291600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572718097	chr1:57291632-57291633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530405050	chr1:57291642-57291643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4142212	chr1:57291674-57291675	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs144853824	chr1:57291675-57291676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561570863	chr1:57291679-57291680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs61425293	chr1:57291690-57291691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182528976	chr1:57291711-57291712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148503483	chr1:57291715-57291716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112289254	chr1:57291716-57291717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538938273	chr1:57291737-57291738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs72668400	chr1:57291749-57291750	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs571640431	chr1:57291761-57291762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550162558	chr1:57291840-57291841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537044197	chr1:57291865-57291866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12138068	chr1:57291866-57291867	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs573805736	chr1:57291867-57291868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536299382	chr1:57291885-57291886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141860748	chr1:57291894-57291895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554368123	chr1:57291896-57291897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200453208	chr1:57291900-57291901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573342872	chr1:57292000-57292001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545712393	chr1:57292065-57292066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565436872	chr1:57292095-57292096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150639939	chr1:57292115-57292116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140819738	chr1:57292132-57292133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532513204	chr1:57292170-57292171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs873065	chr1:57292191-57292192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529838544	chr1:57292207-57292208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546685334	chr1:57292224-57292225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187121344	chr1:57292266-57292267	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs191936652	chr1:57292288-57292289	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs552489460	chr1:57292347-57292348	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs533781404	chr1:57292415-57292416	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs184454376	chr1:57292490-57292491	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs116376523	chr1:57292499-57292500	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs537707664	chr1:57292552-57292553	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs112644831	chr1:57292574-57292575	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs190380939	chr1:57292583-57292584	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs41285936	chr1:57292602-57292603	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
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
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
Meckel-Gruber syndrome	21572526	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	16616336	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	19490664	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:163 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57285400-57305400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:57287200-57291600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:57289600-57291400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:57291600-57291800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:57294600-57294800	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:57296800-57297800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:57297000-57298800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:57297000-57299000	Enhancers	Osteobl	bone
9	chr1:57297000-57299200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr1:57297000-57299200	Enhancers	NH-A	brain
11	chr1:57297200-57297400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:57297200-57297800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:57297200-57297800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:57297200-57298800	Enhancers	HMEC	breast
15	chr1:57297200-57299000	Enhancers	NHEK	skin
16	chr1:57297200-57299400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:57297400-57298000	Enhancers	Duodenum Mucosa	Duodenum
18	chr1:57297400-57298200	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr1:57297400-57298400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:57297400-57299200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:57297400-57299200	Enhancers	Fetal Brain Male	brain
22	chr1:57297600-57297800	Enhancers	Stomach Smooth Muscle	stomach
23	chr1:57297600-57298000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:57297600-57298200	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr1:57297600-57299600	Enhancers	HepG2	liver
26	chr1:57297800-57298200	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr1:57297800-57298200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:57297800-57298200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:57297800-57298200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:57297800-57298200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:57297800-57298200	Flanking Active TSS	Stomach Smooth Muscle	stomach
32	chr1:57297800-57299000	Enhancers	HUVEC	blood vessel
33	chr1:57297800-57299400	Enhancers	Liver	Liver
34	chr1:57298000-57298200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:57298000-57298200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr1:57298000-57298200	Enhancers	Fetal Intestine Small	intestine
37	chr1:57298000-57298200	Enhancers	HSMM	muscle
38	chr1:57298000-57298200	Flanking Active TSS	NHDF-Ad	bronchial
39	chr1:57298200-57298800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:57298200-57298800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:57298200-57299000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr1:57298200-57299000	Enhancers	NHDF-Ad	bronchial
43	chr1:57298200-57299200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:57298200-57299200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:57298400-57298800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr1:57298400-57298800	Enhancers	NHLF	lung
47	chr1:57298400-57299200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:57298400-57299200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:57298400-57299400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:57298600-57298800	Enhancers	Colon Smooth Muscle	Colon

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