Variant report

Variant	esv3410105
Chromosome Location	chr10:50816971-50819819
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:41)
CpG islands
(count:854)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:41 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr10:50819285-50819539	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr10:50818924-50819042	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr10:50818288-50818355	H1-hESC	embryonic stem cell:	n/a	n/a
4	CHD2	chr10:50819575-50819775	H1-hESC	embryonic stem cell:	n/a	n/a
5	CHD2	chr10:50817612-50817790	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTBP2	chr10:50816892-50818054	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTBP2	chr10:50819126-50822240	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr10:50819744-50819945	NHEK	skin:	n/a	n/a
9	CTCF	chr10:50818820-50818970	SK-N-SH_RA	brain:	n/a	n/a
10	CTCF	chr10:50818840-50818990	SK-N-SH_RA	brain:	n/a	n/a
11	CTCF	chr10:50819725-50819917	H1-hESC	embryonic stem cell:	n/a	n/a
12	E2F6	chr10:50819055-50820158	H1-hESC	embryonic stem cell:	n/a	n/a
13	E2F6	chr10:50818546-50820543	H1-hESC	embryonic stem cell:	n/a	n/a
14	E2F6	chr10:50816726-50817997	H1-hESC	embryonic stem cell:	n/a	chr10:50817512-50817521 chr10:50817510-50817520
15	GTF2F1	chr10:50819240-50819440	H1-hESC	embryonic stem cell:	n/a	n/a
16	JUND	chr10:50817441-50817765	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAX	chr10:50819034-50820415	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAX	chr10:50819168-50819957	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAX	chr10:50819004-50820437	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAX	chr10:50817371-50818074	H1-hESC	embryonic stem cell:	n/a	chr10:50818063-50818073
21	MAX	chr10:50816902-50817351	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAX	chr10:50818300-50818978	ECC-1	luminal epithelium:	n/a	n/a
23	MXI1	chr10:50817071-50817188	H1-hESC	embryonic stem cell:	n/a	n/a
24	MYC	chr10:50819539-50819739	H1-hESC	embryonic stem cell:	n/a	n/a
25	MYC	chr10:50816898-50817078	H1-hESC	embryonic stem cell:	n/a	n/a
26	MYC	chr10:50819294-50819331	HUVEC	blood vessel:	n/a	n/a
27	MYC	chr10:50819235-50819287	HUVEC	blood vessel:	n/a	n/a
28	POLR2A	chr10:50819089-50819480	H1-neurons	neurons:	n/a	n/a
29	RAD21	chr10:50819714-50819914	H1-hESC	embryonic stem cell:	n/a	n/a
30	REST	chr10:50816582-50817262	HL-60	blood:	n/a	n/a
31	REST	chr10:50816906-50817221	U87	brain:	n/a	n/a
32	REST	chr10:50817686-50817937	ECC-1	luminal epithelium:	n/a	n/a
33	SIN3A	chr10:50818860-50818863	H1-hESC	embryonic stem cell:	n/a	n/a
34	SIN3A	chr10:50816945-50817952	H1-hESC	embryonic stem cell:	n/a	chr10:50817601-50817612 chr10:50817286-50817299 chr10:50817279-50817290
35	SIN3A	chr10:50819150-50819516	H1-hESC	embryonic stem cell:	n/a	n/a
36	SUZ12	chr10:50818492-50822122	H1-hESC	embryonic stem cell:	n/a	n/a
37	TEAD4	chr10:50817362-50817761	H1-hESC	embryonic stem cell:	n/a	n/a
38	TEAD4	chr10:50817370-50817709	H1-hESC	embryonic stem cell:	n/a	n/a
39	ZBTB7A	chr10:50817093-50818703	ECC-1	luminal epithelium:	n/a	chr10:50818006-50818015 chr10:50818032-50818041
40	ZBTB7A	chr10:50817083-50818611	ECC-1	luminal epithelium:	n/a	chr10:50818006-50818015 chr10:50818032-50818041
41	ZNF143	chr10:50817366-50817953	H1-hESC	embryonic stem cell:	n/a	n/a

(count:854 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:50817213-50817263	HEEpiC	esophagus:	n/a
2	chr10:50818299-50818349	H1-hESC	embryonic stem cell:	embryo
3	chr10:50818707-50818757	A549	lung:	n/a
4	chr10:50817306-50817356	ovcar-3	ovarian:	n/a
5	chr10:50816963-50817013	ovcar-3	ovarian:	n/a
6	chr10:50817810-50817860	MCF-7	breast:	n/a
7	chr10:50818153-50818203	SK-N-SH	brain:	n/a
8	chr10:50818153-50818203	BJ	skin:	n/a
9	chr10:50818707-50818757	NHDF-neo	bronchial:	n/a
10	chr10:50818707-50818757	MCF10A-Er-Src	breast:	n/a
11	chr10:50817096-50817146	H1-hESC	embryonic stem cell:	embryo
12	chr10:50817810-50817860	HepG2	liver:	n/a
13	chr10:50819500-50819550	NHBE	bronchial:	n/a
14	chr10:50818299-50818349	BJ	skin:	n/a
15	chr10:50818153-50818203	U87	brain:	n/a
16	chr10:50817213-50817263	PFSK-1	brain:	n/a
17	chr10:50818652-50818702	HL-60	blood:	n/a
18	chr10:50817810-50817860	AG10803	skin:	n/a
19	chr10:50818153-50818203	HepG2	liver:	n/a
20	chr10:50817104-50817154	Jurkat	blood:	n/a
21	chr10:50816963-50817013	Caco-2	colon:	n/a
22	chr10:50817651-50817701	HL-60	blood:	n/a
23	chr10:50816963-50817013	HCT-116	colon:	n/a
24	chr10:50819500-50819550	K562	blood:	n/a
25	chr10:50817651-50817701	HRCEpiC	kidney:	n/a
26	chr10:50817096-50817146	GM12878	blood:	n/a
27	chr10:50818911-50818961	HMEC	breast:	n/a
28	chr10:50817213-50817263	U87	brain:	n/a
29	chr10:50817213-50817263	Hepatocyte	liver:	n/a
30	chr10:50817306-50817356	AoSMC	blood vessel:	n/a
31	chr10:50817213-50817263	HCF	heart:	n/a
32	chr10:50817213-50817263	GM12891	blood:	n/a
33	chr10:50818911-50818961	HEEpiC	esophagus:	n/a
34	chr10:50817096-50817146	AG04449	skin:	fetal
35	chr10:50817104-50817154	HL-60	blood:	n/a
36	chr10:50818911-50818961	HRCEpiC	kidney:	n/a
37	chr10:50817213-50817263	HUVEC	blood vessel:	n/a
38	chr10:50818911-50818961	GM12878	blood:	n/a
39	chr10:50819500-50819550	HCF	heart:	n/a
40	chr10:50818299-50818349	AG04449	skin:	fetal
41	chr10:50817804-50817854	SK-N-SH_RA	brain:	n/a
42	chr10:50818707-50818757	HNPCEpiC	eye:	n/a
43	chr10:50817096-50817146	PFSK-1	brain:	n/a
44	chr10:50817213-50817263	T-47D	breast:	n/a
45	chr10:50817096-50817146	SK-N-MC	brain:	n/a
46	chr10:50818911-50818961	ECC-1	luminal epithelium:	n/a
47	chr10:50818652-50818702	SKMC	muscle:	n/a
48	chr10:50817306-50817356	HNPCEpiC	eye:	n/a
49	chr10:50817104-50817154	PrEC	prostate:	n/a
50	chr10:50817213-50817263	HEK293	kidney:	embryo

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50817275..50819669-chr10:50821869..50826020,4	K562	blood:
2	chr10:50817979..50819560-chr10:50821869..50824788,2	K562	blood:

No data

Variant related genes	Relation type
CHAT	TF binding region
SLC18A3	TF binding region
CHAT	CpG island
SLC18A3	CpG island
ENSG00000070748	chromatin interactions

Extended variants
information (count: 144 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:144 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142471965	chr10:50817008-50817009	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
2	rs150903864	chr10:50817030-50817031	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs370719346	chr10:50817041-50817042	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs537444787	chr10:50817050-50817051	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs60144242	chr10:50817071-50817072	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs181965483	chr10:50817081-50817082	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs574092261	chr10:50817097-50817098	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
8	rs542942211	chr10:50817149-50817150	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
9	rs186028903	chr10:50817173-50817174	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs80200823	chr10:50817210-50817211	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs190746084	chr10:50817321-50817322	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs565239242	chr10:50817348-50817349	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs549567518	chr10:50817444-50817445	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs532600264	chr10:50817506-50817507	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs544368000	chr10:50817540-50817541	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs139389571	chr10:50817546-50817547	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs530091155	chr10:50817566-50817567	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs574835913	chr10:50817586-50817587	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs376984848	chr10:50817611-50817612	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs548534504	chr10:50817636-50817637	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs560453993	chr10:50817639-50817640	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs527514654	chr10:50817648-50817649	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs183262975	chr10:50817665-50817666	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs150036809	chr10:50817698-50817699	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs537993218	chr10:50817701-50817702	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs8178981	chr10:50817735-50817736	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs12774253	chr10:50817751-50817752	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs191436474	chr10:50817803-50817804	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs554868562	chr10:50817821-50817822	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs373885385	chr10:50817952-50817953	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs534140673	chr10:50817958-50817959	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs182461778	chr10:50817960-50817961	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs559148697	chr10:50817968-50817969	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs577361088	chr10:50817999-50818000	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs885835	chr10:50818011-50818012	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs562953196	chr10:50818024-50818025	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs574899757	chr10:50818037-50818038	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs885836	chr10:50818071-50818072	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs542216096	chr10:50818073-50818074	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs874273	chr10:50818076-50818077	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs527539788	chr10:50818077-50818078	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs565783496	chr10:50818087-50818088	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs552185745	chr10:50818100-50818101	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs564334685	chr10:50818119-50818120	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs874274	chr10:50818147-50818148	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs531391164	chr10:50818158-50818159	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs112650831	chr10:50818161-50818162	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs549481212	chr10:50818209-50818210	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs368944171	chr10:50818225-50818226	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs874275	chr10:50818228-50818229	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21785460	CNVD
Intellectual disability	21948486	CNVD
Schizophrenia	23813976	CNVD
Intellectual disability	22045946	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Autism	21948486	CNVD
cleft palate	21948486	CNVD
Encephalopathy	21948486	CNVD
Lung cancer	18438408	CNVD
Autism	22543975	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
skeletal anomalies	21948486	CNVD
speech delay	21948486	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Metanephric adenoma	20802469	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
XY gonadal dysgenesis	20685758	CNVD

Chromatin state (count:290 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50815200-50818000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr10:50815600-50817000	Weak transcription	Pancreas	Pancrea
3	chr10:50815600-50817400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
4	chr10:50815800-50817000	Weak transcription	Gastric	stomach
5	chr10:50816600-50817000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
6	chr10:50816600-50817000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr10:50816600-50817200	Enhancers	Placenta Amnion	Placenta Amnion
8	chr10:50816600-50820000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
9	chr10:50816600-50820000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr10:50816800-50817000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
11	chr10:50816800-50817200	Bivalent Enhancer	Fetal Stomach	stomach
12	chr10:50816800-50817400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
13	chr10:50816800-50817400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr10:50816800-50817400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
15	chr10:50816800-50817400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
16	chr10:50816800-50817600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr10:50816800-50817600	Bivalent Enhancer	Placenta	Placenta
18	chr10:50816800-50817800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr10:50816800-50818000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr10:50816800-50819400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
21	chr10:50816800-50819800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr10:50817000-50817200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
23	chr10:50817000-50817200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
24	chr10:50817000-50817200	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr10:50817000-50817200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
26	chr10:50817000-50817200	Bivalent Enhancer	Fetal Brain Female	brain
27	chr10:50817000-50817200	Enhancers	Pancreas	Pancrea
28	chr10:50817000-50817200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
29	chr10:50817000-50817400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
30	chr10:50817000-50817400	Bivalent Enhancer	HMEC	breast
31	chr10:50817000-50817600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr10:50817000-50817600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr10:50817000-50817800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr10:50817000-50818000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr10:50817000-50818400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
36	chr10:50817000-50819000	Bivalent Enhancer	Spleen	Spleen
37	chr10:50817000-50819400	Enhancers	Gastric	stomach
38	chr10:50817200-50817400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr10:50817200-50817400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
40	chr10:50817200-50817400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
41	chr10:50817200-50817400	Bivalent Enhancer	Right Ventricle	heart
42	chr10:50817200-50817600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
43	chr10:50817200-50817600	Bivalent Enhancer	Fetal Intestine Small	intestine
44	chr10:50817200-50817600	Bivalent Enhancer	Fetal Muscle Leg	muscle
45	chr10:50817200-50817600	Flanking Active TSS	Placenta Amnion	Placenta Amnion
46	chr10:50817200-50817800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr10:50817200-50817800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
48	chr10:50817200-50817800	Bivalent Enhancer	Fetal Intestine Large	intestine
49	chr10:50817200-50817800	Weak transcription	Pancreas	Pancrea
50	chr10:50817200-50818000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell

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