Variant report

Variant	nsv525154
Chromosome Location	chr1:246954166-246963019
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:70)
CpG islands
(count:674)
Chromatin interactive
region (count:8)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:70 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr1:246961509-246961834	GM12878	blood:	n/a	n/a
2	BHLHE40	chr1:246958086-246958377	K562	blood:	n/a	n/a
3	BHLHE40	chr1:246961064-246961178	K562	blood:	n/a	n/a
4	CBX3	chr1:246960849-246961178	K562	blood:	n/a	n/a
5	CEBPB	chr1:246958868-246958981	H1-hESC	embryonic stem cell:	n/a	n/a
6	CHD2	chr1:246958101-246958430	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr1:246954272-246954278	NHEK	skin:	n/a	n/a
8	CTCF	chr1:246954246-246954271	NHEK	skin:	n/a	n/a
9	E2F6	chr1:246960880-246961087	K562	blood:	n/a	chr1:246960895-246960904
10	FOS	chr1:246958135-246958378	MCF10A-Er-Src	breast:	n/a	chr1:246958243-246958251 chr1:246958242-246958252
11	FOS	chr1:246958127-246958396	MCF10A-Er-Src	breast:	n/a	chr1:246958243-246958251 chr1:246958242-246958252
12	FOS	chr1:246958151-246958318	MCF10A-Er-Src	breast:	n/a	chr1:246958243-246958251 chr1:246958242-246958252
13	GATA2	chr1:246961269-246961663	SH-SY5Y	brain:	n/a	chr1:246961465-246961477 chr1:246961465-246961472
14	GATA3	chr1:246961331-246961494	SH-SY5Y	brain:	n/a	chr1:246961465-246961477 chr1:246961465-246961472
15	GATA3	chr1:246961197-246961602	T-47D	breast:	n/a	chr1:246961465-246961477 chr1:246961465-246961472
16	GATA3	chr1:246961327-246961675	MCF-7	breast:	n/a	chr1:246961465-246961477 chr1:246961465-246961472
17	GTF2F1	chr1:246958798-246958927	H1-hESC	embryonic stem cell:	n/a	n/a
18	HMGN3	chr1:246962401-246962599	K562	blood:	n/a	n/a
19	JUND	chr1:246958201-246958239	K562	blood:	n/a	n/a
20	JUND	chr1:246958926-246959173	H1-hESC	embryonic stem cell:	n/a	chr1:246959055-246959062
21	MAX	chr1:246958038-246958361	NB4	blood:	n/a	n/a
22	MAX	chr1:246958135-246958243	HepG2	liver:	n/a	n/a
23	MAX	chr1:246958454-246959107	H1-hESC	embryonic stem cell:	n/a	n/a
24	MAX	chr1:246960916-246961142	K562	blood:	n/a	chr1:246960998-246961005
25	MAX	chr1:246958122-246958498	Hela-S3	cervix:	n/a	n/a
26	MAX	chr1:246960770-246961217	K562	blood:	n/a	chr1:246960998-246961005
27	MAX	chr1:246960915-246961138	HepG2	liver:	n/a	chr1:246960998-246961005
28	MAZ	chr1:246959086-246959177	Hela-S3	cervix:	n/a	n/a
29	MAZ	chr1:246958304-246958360	K562	blood:	n/a	n/a
30	MAZ	chr1:246958177-246958429	Hela-S3	cervix:	n/a	n/a
31	MAZ	chr1:246958175-246958319	HepG2	liver:	n/a	n/a
32	MXI1	chr1:246962796-246962816	H1-hESC	embryonic stem cell:	n/a	n/a
33	MYC	chr1:246959071-246959225	H1-hESC	embryonic stem cell:	n/a	n/a
34	MYC	chr1:246958061-246958370	NB4	blood:	n/a	n/a
35	MYC	chr1:246958248-246958257	K562	blood:	n/a	n/a
36	MYC	chr1:246958192-246958447	MCF10A-Er-Src	breast:	n/a	n/a
37	MYC	chr1:246959232-246959249	GM12878	blood:	n/a	n/a
38	NFYB	chr1:246960933-246961237	K562	blood:	n/a	n/a
39	NRF1	chr1:246961015-246961337	K562	blood:	n/a	chr1:246961159-246961170 chr1:246961156-246961170 chr1:246961159-246961170
40	NRF1	chr1:246960986-246961271	HepG2	liver:	n/a	chr1:246961159-246961170 chr1:246961156-246961170 chr1:246961159-246961170
41	POLR2A	chr1:246957946-246957949	HepG2	liver:	n/a	n/a
42	POLR2A	chr1:246952019-246955465	HepG2	liver:	n/a	n/a
43	POLR2A	chr1:246954672-246954674	K562	blood:	n/a	n/a
44	POLR2A	chr1:246958235-246958468	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr1:246958757-246958784	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr1:246958808-246958927	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr1:246955911-246956546	HepG2	liver:	n/a	n/a
48	POLR2A	chr1:246956803-246957071	HepG2	liver:	n/a	n/a
49	RAD21	chr1:246958722-246958929	H1-hESC	embryonic stem cell:	n/a	n/a
50	RCOR1	chr1:246958014-246958344	Hela-S3	cervix:	n/a	n/a

(count:674 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:246954479-246954529	IMR90	lung:	fetal
2	chr1:246954397-246954447	GM12891	blood:	n/a
3	chr1:246958927-246958977	T-47D	breast:	n/a
4	chr1:246954479-246954529	IMR90	lung:	fetal
5	chr1:246954397-246954447	GM12891	blood:	n/a
6	chr1:246958927-246958977	T-47D	breast:	n/a
7	chr1:246959150-246959200	NHDF-neo	bronchial:	n/a
8	chr1:246959476-246959526	A549	lung:	n/a
9	chr1:246959150-246959200	NH-A	brain:	n/a
10	chr1:246958862-246958912	BJ	skin:	n/a
11	chr1:246958957-246959007	NB4	blood:	n/a
12	chr1:246954479-246954529	NT2-D1	testis:	n/a
13	chr1:246959275-246959325	GM12891	blood:	n/a
14	chr1:246959150-246959200	HCM	heart:	n/a
15	chr1:246958927-246958977	GM06990	blood:	n/a
16	chr1:246959150-246959200	HepG2	liver:	n/a
17	chr1:246958862-246958912	HCF	heart:	n/a
18	chr1:246959150-246959200	MCF-7	breast:	n/a
19	chr1:246954397-246954447	HPAEpiC	pulmonary alveolar:	n/a
20	chr1:246958957-246959007	SK-N-MC	brain:	n/a
21	chr1:246959275-246959325	PrEC	prostate:	n/a
22	chr1:246955186-246955236	HNPCEpiC	eye:	n/a
23	chr1:246958862-246958912	Hepatocyte	liver:	n/a
24	chr1:246954130-246954180	RPTEC	kidney:	n/a
25	chr1:246959476-246959526	GM12891	blood:	n/a
26	chr1:246958421-246958471	PFSK-1	brain:	n/a
27	chr1:246954397-246954447	IMR90	lung:	fetal
28	chr1:246958957-246959007	AG09309	skin:	n/a
29	chr1:246959150-246959200	HAEpiC	amniotic membrane:	n/a
30	chr1:246958957-246959007	Hela-S3	cervix:	n/a
31	chr1:246959275-246959325	AoSMC	blood vessel:	n/a
32	chr1:246959275-246959325	HCPEpiC	choroid plexus:	n/a
33	chr1:246959476-246959526	AoSMC	blood vessel:	n/a
34	chr1:246959476-246959526	NHDF-neo	bronchial:	n/a
35	chr1:246958862-246958912	HEK293	kidney:	embryo
36	chr1:246954130-246954180	H1-hESC	embryonic stem cell:	embryo
37	chr1:246955186-246955236	HPAEpiC	pulmonary alveolar:	n/a
38	chr1:246959150-246959200	HNPCEpiC	eye:	n/a
39	chr1:246959275-246959325	ovcar-3	ovarian:	n/a
40	chr1:246958421-246958471	HEK293	kidney:	embryo
41	chr1:246958957-246959007	LNCaP	prostate:	n/a
42	chr1:246959275-246959325	MCF10A-Er-Src	breast:	n/a
43	chr1:246959150-246959200	H1-hESC	embryonic stem cell:	embryo
44	chr1:246955186-246955236	AoSMC	blood vessel:	n/a
45	chr1:246958927-246958977	GM12891	blood:	n/a
46	chr1:246954397-246954447	HCPEpiC	choroid plexus:	n/a
47	chr1:246959476-246959526	T-47D	breast:	n/a
48	chr1:246955186-246955236	Jurkat	blood:	n/a
49	chr1:246958957-246959007	MCF10A-Er-Src	breast:	n/a
50	chr1:246954130-246954180	HMEC	breast:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:246959981..246962716-chr1:246996728..246998857,2	K562	blood:
2	chr1:246951287..246953566-chr1:246953954..246955878,2	K562	blood:
3	chr1:246961516..246963761-chr1:246966339..246968259,2	K562	blood:
4	chr1:246947863..246950737-chr1:246955534..246958026,3	K562	blood:
5	chr1:246959485..246962350-chr1:246964445..246966193,2	K562	blood:
6	chr1:246951802..246955947-chr1:246959836..246963718,4	K562	blood:
7	chr1:246951802..246955219-chr1:246959555..246964384,5	K562	blood:
8	chr1:246960568..246961069-chr15:101792577..101793077,2	Hela-S3	cervix:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SCCPDH-1	chr1:246955359-246955691	NONHSAT010736
2	lnc-SCCPDH-1	chr1:246953748-246955687	ENSG00000227953.2
3	lnc-SCCPDH-1	chr1:246954044-246954488	NONHSAT010738
4	lnc-SCCPDH-1	chr1:246955359-246955790	XLOC_000643
5	lnc-SCCPDH-1	chr1:246955359-246955687	XLOC_000643
6	lnc-SCCPDH-1	chr1:246953748-246954788	XLOC_000643
7	lnc-SCCPDH-1	chr1:246955359-246955689	XLOC_000643
8	lnc-SCCPDH-1	chr1:246955359-246955843	NONHSAT010737
9	lnc-SCCPDH-1	chr1:246955359-246955607	NONHSAT139944

No data

Variant related genes	Relation type
KIF28P	TF binding region
KIF28P	CpG island
ENSG00000227953	chromatin interactions
ENSG00000223519	chromatin interactions
ENSG00000252011	chromatin interactions
DDX42	miRNA target sites
C9orf5	miRNA target sites

Extended variants
information (count: 439 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:439 , 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	rs6694274	chr1:246954166-246954167	Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs562420549	chr1:246954195-246954196	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
3	rs531467763	chr1:246954196-246954197	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
4	rs114660228	chr1:246954262-246954263	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
5	rs561679510	chr1:246954264-246954265	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
6	rs74154856	chr1:246954276-246954277	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
7	rs6680122	chr1:246954297-246954298	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs10924831	chr1:246954313-246954314	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs554470908	chr1:246954336-246954337	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
10	rs538079003	chr1:246954363-246954364	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
11	rs147474722	chr1:246954373-246954374	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
12	rs371850909	chr1:246954412-246954413	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
13	rs554767542	chr1:246954420-246954421	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
14	rs574733009	chr1:246954465-246954466	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
15	rs533945772	chr1:246954470-246954471	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
16	rs558266132	chr1:246954479-246954480	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
17	rs553619757	chr1:246954495-246954496	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
18	rs556783013	chr1:246954501-246954502	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
19	rs12117291	chr1:246954502-246954503	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs190618732	chr1:246954520-246954521	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
21	rs562743117	chr1:246954522-246954523	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
22	rs576051418	chr1:246954523-246954524	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
23	rs539458365	chr1:246954525-246954526	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
24	rs541870132	chr1:246954529-246954530	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
25	rs139897007	chr1:246954534-246954535	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
26	rs527252065	chr1:246954543-246954544	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
27	rs368131558	chr1:246954558-246954559	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
28	rs547445263	chr1:246954567-246954568	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
29	rs560754207	chr1:246954573-246954574	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
30	rs76714875	chr1:246954577-246954578	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
31	rs552494667	chr1:246954597-246954598	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
32	rs41305953	chr1:246954621-246954622	Weak transcription Enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
33	rs531819195	chr1:246954624-246954625	Weak transcription Enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
34	rs548627246	chr1:246954665-246954666	Weak transcription Enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
35	rs149990850	chr1:246954719-246954720	Weak transcription Enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
36	rs77026692	chr1:246954728-246954729	Weak transcription Enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
37	rs371921335	chr1:246954770-246954771	Weak transcription Enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
38	rs553783805	chr1:246954771-246954772	Weak transcription Enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
39	rs570402819	chr1:246954784-246954785	Weak transcription Enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
40	rs539393783	chr1:246954810-246954811	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
41	rs144225511	chr1:246954815-246954816	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
42	rs183124997	chr1:246954823-246954824	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
43	rs541680837	chr1:246954824-246954825	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
44	rs111588951	chr1:246954846-246954847	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
45	rs77771978	chr1:246954873-246954874	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
46	rs572208560	chr1:246954875-246954876	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
47	rs72764659	chr1:246954891-246954892	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
48	rs111922812	chr1:246954897-246954898	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
49	rs374758388	chr1:246954899-246954900	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
50	rs371331516	chr1:246954908-246954909	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Neuroblastoma	21899760	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	20729466	CNVD
Testicular germ cell tumor	18059402	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD

Chromatin state (count:292 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246932800-246956400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:246945800-246956400	Weak transcription	A549	lung
3	chr1:246946200-246956800	Weak transcription	Left Ventricle	heart
4	chr1:246949000-246957600	Weak transcription	NHDF-Ad	bronchial
5	chr1:246949400-246956800	Weak transcription	Hela-S3	cervix
6	chr1:246949400-246957600	Weak transcription	NHLF	lung
7	chr1:246951200-246954800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:246952600-246956000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:246952600-246956800	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr1:246952600-246957600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:246952600-246957800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:246952800-246956600	Weak transcription	Placenta	Placenta
13	chr1:246952800-246956800	Weak transcription	Fetal Intestine Large	intestine
14	chr1:246952800-246957000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:246952800-246957000	Weak transcription	Brain Germinal Matrix	brain
16	chr1:246952800-246957600	Weak transcription	Fetal Brain Female	brain
17	chr1:246952800-246957800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr1:246953000-246956800	Weak transcription	Fetal Brain Male	brain
19	chr1:246953000-246957600	Weak transcription	Fetal Heart	heart
20	chr1:246953000-246957600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr1:246953000-246957600	Weak transcription	Right Ventricle	heart
22	chr1:246953000-246957800	Weak transcription	Fetal Intestine Small	intestine
23	chr1:246953200-246954200	Enhancers	Fetal Thymus	thymus
24	chr1:246953200-246956800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:246953200-246957600	Weak transcription	Spleen	Spleen
26	chr1:246953400-246954200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:246953400-246955400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr1:246953400-246956200	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr1:246953400-246956400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr1:246953400-246956400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr1:246953400-246956400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr1:246953400-246956400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr1:246953400-246956600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:246953400-246956600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr1:246953400-246956800	Weak transcription	Fetal Muscle Leg	muscle
36	chr1:246953400-246957000	Weak transcription	Gastric	stomach
37	chr1:246953400-246957600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr1:246953400-246957600	Weak transcription	Fetal Lung	lung
39	chr1:246953400-246957600	Weak transcription	Ovary	ovary
40	chr1:246953400-246958000	Weak transcription	Fetal Kidney	kidney
41	chr1:246953400-246961600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr1:246953600-246955600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:246953600-246956800	Weak transcription	Fetal Stomach	stomach
44	chr1:246954000-246954400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr1:246954000-246956200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr1:246954200-246954600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:246954600-246954800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
48	chr1:246954600-246956000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:246954800-246957600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:246955400-246955600	Enhancers	HUES6 Cell Line	embryonic stem cell

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