Variant report

Variant	esv3449549
Chromosome Location	chr10:49513996-49515994
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	chr10:49514699-49514899	HepG2	liver:	n/a	n/a
2	ARID3A	chr10:49514425-49514517	K562	blood:	n/a	n/a
3	ATF3	chr10:49514255-49514895	K562	blood:	n/a	n/a
4	BACH1	chr10:49515040-49515249	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCLAF1	chr10:49514444-49515017	GM12878	blood:	n/a	chr10:49514930-49514943 chr10:49514935-49514948 chr10:49514818-49514831 chr10:49514852-49514865 chr10:49514822-49514835 chr10:49514932-49514945 chr10:49514935-49514944 chr10:49514938-49514947 chr10:49514929-49514942
6	BHLHE40	chr10:49514083-49515247	GM12878	blood:	n/a	chr10:49514447-49514463 chr10:49514926-49514942 chr10:49514929-49514945 chr10:49514932-49514948
7	BHLHE40	chr10:49514087-49514854	HepG2	liver:	n/a	chr10:49514447-49514463
8	BHLHE40	chr10:49515192-49515938	K562	blood:	n/a	n/a
9	BHLHE40	chr10:49514067-49514896	K562	blood:	n/a	chr10:49514447-49514463
10	BHLHE40	chr10:49514265-49514612	A549	lung:	n/a	chr10:49514447-49514463
11	BRCA1	chr10:49514420-49514837	Hela-S3	cervix:	n/a	n/a
12	CBX3	chr10:49514185-49514605	K562	blood:	n/a	n/a
13	CBX3	chr10:49513931-49514887	K562	blood:	n/a	n/a
14	CCNT2	chr10:49514277-49515533	K562	blood:	n/a	n/a
15	CEBPB	chr10:49514675-49514720	K562	blood:	n/a	n/a
16	CEBPB	chr10:49514412-49514919	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr10:49514583-49514739	HepG2	liver:	n/a	n/a
18	CEBPB	chr10:49514542-49514905	IMR90	lung:	n/a	n/a
19	CEBPD	chr10:49514340-49514941	HepG2	liver:	n/a	n/a
20	CHD1	chr10:49514767-49514848	GM12878	blood:	n/a	n/a
21	CHD2	chr10:49514324-49514819	HepG2	liver:	n/a	n/a
22	CHD2	chr10:49515091-49515287	GM12878	blood:	n/a	n/a
23	CHD2	chr10:49514191-49515418	Hela-S3	cervix:	n/a	n/a
24	CHD2	chr10:49514144-49514894	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD2	chr10:49514116-49515410	K562	blood:	n/a	n/a
26	CHD2	chr10:49515059-49515323	HepG2	liver:	n/a	n/a
27	CHD2	chr10:49514242-49514630	GM12878	blood:	n/a	n/a
28	CREB1	chr10:49514180-49514972	H1-hESC	embryonic stem cell:	n/a	n/a
29	CREB1	chr10:49514197-49515374	K562	blood:	n/a	n/a
30	CREB1	chr10:49514201-49515125	A549	lung:	n/a	n/a
31	CREB1	chr10:49514159-49514945	HepG2	liver:	n/a	n/a
32	CREB1	chr10:49514135-49515002	H1-hESC	embryonic stem cell:	n/a	n/a
33	CREB1	chr10:49514094-49515417	HepG2	liver:	n/a	n/a
34	CREB1	chr10:49514204-49515223	GM12878	blood:	n/a	n/a
35	CREB1	chr10:49514529-49514931	A549	lung:	n/a	n/a
36	CREB1	chr10:49514475-49514801	ECC-1	luminal epithelium:	n/a	n/a
37	CREB1	chr10:49514148-49515070	K562	blood:	n/a	n/a
38	CTCF	chr10:49514240-49514390	HEEpiC	esophagus:	n/a	chr10:49514313-49514326 chr10:49514311-49514327
39	CTCF	chr10:49514251-49514432	MCF-7	breast:	n/a	chr10:49514313-49514326 chr10:49514311-49514327
40	CTCF	chr10:49514280-49514430	HMEC	breast:	n/a	chr10:49514313-49514326 chr10:49514311-49514327
41	CTCF	chr10:49514357-49514394	GM19239	blood:	n/a	n/a
42	CTCF	chr10:49514244-49514418	MCF-7	breast:	n/a	chr10:49514313-49514326 chr10:49514311-49514327
43	CTCF	chr10:49515240-49515390	Caco-2	colon:	n/a	n/a
44	CTCF	chr10:49514249-49514406	H1-hESC	embryonic stem cell:	n/a	chr10:49514313-49514326 chr10:49514311-49514327
45	CTCF	chr10:49514252-49514392	Fibrobl	skin:	n/a	chr10:49514313-49514326 chr10:49514311-49514327
46	CTCF	chr10:49515340-49515490	GM12873	blood:	n/a	n/a
47	CTCF	chr10:49514239-49514436	MCF-7	breast:	n/a	chr10:49514313-49514326 chr10:49514311-49514327
48	CTCF	chr10:49515348-49515349	GM10248	blood:	n/a	n/a
49	CTCF	chr10:49514240-49514390	Caco-2	colon:	n/a	chr10:49514313-49514326 chr10:49514311-49514327
50	CTCF	chr10:49514251-49514399	NHEK	skin:	n/a	chr10:49514313-49514326 chr10:49514311-49514327

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:49515374-49515424	SK-N-SH_RA	brain:	n/a
2	chr10:49515374-49515424	HUVEC	blood vessel:	n/a
3	chr10:49514337-49514387	AG09309	skin:	n/a
4	chr10:49514273-49514323	ovcar-3	ovarian:	n/a
5	chr10:49515374-49515424	MCF10A-Er-Src	breast:	n/a
6	chr10:49514273-49514323	SKMC	muscle:	n/a
7	chr10:49514273-49514323	GM12892	blood:	n/a
8	chr10:49514273-49514323	HCT-116	colon:	n/a
9	chr10:49514530-49514580	SK-N-SH_RA	brain:	n/a
10	chr10:49514530-49514580	A549	lung:	n/a
11	chr10:49514530-49514580	SK-N-MC	brain:	n/a
12	chr10:49514337-49514387	SAEC	small airway:	n/a
13	chr10:49514530-49514580	BJ	skin:	n/a
14	chr10:49514530-49514580	HepG2	liver:	n/a
15	chr10:49515028-49515078	U87	brain:	n/a
16	chr10:49514273-49514323	RPTEC	kidney:	n/a
17	chr10:49515374-49515424	MCF-7	breast:	n/a
18	chr10:49514530-49514580	LNCaP	prostate:	n/a
19	chr10:49514337-49514387	GM12891	blood:	n/a
20	chr10:49514273-49514323	BJ	skin:	n/a
21	chr10:49514337-49514387	AG04449	skin:	fetal
22	chr10:49514337-49514387	HCPEpiC	choroid plexus:	n/a
23	chr10:49515028-49515078	CMK	blood:	n/a
24	chr10:49515028-49515078	ProgFib	skin:	n/a
25	chr10:49514546-49514596	CMK	blood:	n/a
26	chr10:49515374-49515424	IMR90	lung:	fetal
27	chr10:49514546-49514596	Jurkat	blood:	n/a
28	chr10:49514546-49514596	GM06990	blood:	n/a
29	chr10:49514273-49514323	BE2_C	brain:	n/a
30	chr10:49514337-49514387	PFSK-1	brain:	n/a
31	chr10:49514337-49514387	GM12878	blood:	n/a
32	chr10:49514530-49514580	HEK293	kidney:	embryo
33	chr10:49514273-49514323	SK-N-MC	brain:	n/a
34	chr10:49514273-49514323	HRE	kidney:	n/a
35	chr10:49515028-49515078	SK-N-MC	brain:	n/a
36	chr10:49514530-49514580	U87	brain:	n/a
37	chr10:49514337-49514387	SK-N-SH	brain:	n/a
38	chr10:49514546-49514596	HIPEpiC	eye:	n/a
39	chr10:49514546-49514596	GM19239	blood:	n/a
40	chr10:49514337-49514387	HRE	kidney:	n/a
41	chr10:49514530-49514580	HRCEpiC	kidney:	n/a
42	chr10:49514337-49514387	H1-hESC	embryonic stem cell:	embryo
43	chr10:49515028-49515078	NB4	blood:	n/a
44	chr10:49514273-49514323	AG04449	skin:	fetal
45	chr10:49514546-49514596	ProgFib	skin:	n/a
46	chr10:49514337-49514387	HCF	heart:	n/a
47	chr10:49514546-49514596	HepG2	liver:	n/a
48	chr10:49515374-49515424	AG09309	skin:	n/a
49	chr10:49514530-49514580	Hepatocyte	liver:	n/a
50	chr10:49515028-49515078	PrEC	prostate:	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:49496582..49501262-chr10:49513244..49517429,4	K562	blood:
2	chr10:49459652..49462139-chr10:49513267..49515617,2	K562	blood:
3	chr10:49514688..49515207-chr5:33441143..33441743,2	Hela-S3	cervix:
4	chr10:49514463..49514994-chr17:62501665..62502574,2	HCT-116	colon:
5	chr10:49495793..49496380-chr10:49514095..49514687,2	MCF-7	breast:
6	chr10:49514655..49517342-chr10:49637868..49640207,2	K562	blood:
7	chr10:49514380..49515188-chr12:46662249..46662996,2	Hela-S3	cervix:
8	chr10:49498367..49502317-chr10:49513526..49516072,3	MCF-7	breast:
9	chr10:49508706..49510479-chr10:49512304..49514227,2	MCF-7	breast:
10	chr10:49514520..49515023-chr9:91933231..91933828,2	Hela-S3	cervix:

Variant related genes	Relation type
MAPK8	TF binding region
MAPK8	CpG island
ENSG00000113407	chromatin interactions
ENSG00000225482	chromatin interactions
ENSG00000170324	chromatin interactions
ENSG00000107643	chromatin interactions
ENSG00000111371	chromatin interactions
ENSG00000108654	chromatin interactions
ENSG00000187742	chromatin interactions

Extended variants
information (count: 74 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571667745	chr10:49514018-49514019	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs538170752	chr10:49514051-49514052	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs369588364	chr10:49514053-49514054	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs560927237	chr10:49514057-49514058	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs147198568	chr10:49514111-49514112	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs12259267	chr10:49514171-49514172	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs189451652	chr10:49514193-49514194	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs371840970	chr10:49514223-49514224	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs375052090	chr10:49514244-49514245	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs547874884	chr10:49514248-49514249	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs140470044	chr10:49514299-49514300	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs144394056	chr10:49514307-49514308	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs545818715	chr10:49514353-49514354	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs371025630	chr10:49514359-49514360	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs557486652	chr10:49514363-49514364	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs375072731	chr10:49514379-49514380	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs75514494	chr10:49514453-49514454	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs575966796	chr10:49514552-49514553	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs543319474	chr10:49514556-49514557	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs561611435	chr10:49514559-49514560	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs369795429	chr10:49514570-49514571	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs529092193	chr10:49514585-49514586	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs540821690	chr10:49514590-49514591	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs535488282	chr10:49514630-49514631	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs113540415	chr10:49514751-49514752	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs527766384	chr10:49514755-49514756	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs12775943	chr10:49514782-49514783	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs552604624	chr10:49514890-49514891	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs533983447	chr10:49514951-49514952	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs570778176	chr10:49514985-49514986	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs531690436	chr10:49515064-49515065	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs111420085	chr10:49515081-49515082	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs60684775	chr10:49515082-49515083	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs568768312	chr10:49515084-49515085	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs536084658	chr10:49515114-49515115	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs554391734	chr10:49515128-49515129	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs149782592	chr10:49515226-49515227	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs12261366	chr10:49515255-49515256	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs376389753	chr10:49515328-49515329	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs557790558	chr10:49515370-49515371	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs373332144	chr10:49515374-49515375	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs145682919	chr10:49515379-49515380	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs567674939	chr10:49515399-49515400	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs543001577	chr10:49515400-49515401	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs565232528	chr10:49515401-49515402	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs536776943	chr10:49515409-49515410	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs573575471	chr10:49515476-49515477	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs540858919	chr10:49515485-49515486	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs556066250	chr10:49515510-49515511	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs12261489	chr10:49515528-49515529	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Acute myeloid leukemia	19651601	CNVD
Breast cancer	20409316	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Rett syndrome	21593744	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	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
T-cell primary immunodeficiency	21948486	CNVD
Autism	22543975	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
skeletal anomalies	21948486	CNVD
speech delay	21948486	CNVD

Chromatin state (count:407 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49496400-49514200	Weak transcription	Right Atrium	heart
2	chr10:49508800-49514000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr10:49508800-49514000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr10:49508800-49514000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr10:49508800-49514000	Weak transcription	Dnd41	blood
6	chr10:49509200-49514000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr10:49509200-49514000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr10:49509200-49514000	Weak transcription	Brain Anterior Caudate	brain
9	chr10:49509200-49514000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr10:49511400-49514000	Weak transcription	K562	blood
11	chr10:49511400-49514400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr10:49512000-49514000	Weak transcription	GM12878-XiMat	blood
13	chr10:49512400-49514000	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr10:49513400-49514200	Enhancers	HUVEC	blood vessel
15	chr10:49513600-49514000	Enhancers	Fetal Brain Female	brain
16	chr10:49513800-49514000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
17	chr10:49513800-49514000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
18	chr10:49513800-49514000	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr10:49513800-49514000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
20	chr10:49513800-49514000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr10:49513800-49514000	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr10:49513800-49514000	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr10:49513800-49514000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr10:49513800-49514000	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr10:49513800-49514000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr10:49513800-49514000	Enhancers	Adipose Nuclei	Adipose
27	chr10:49513800-49514000	Enhancers	Brain Angular Gyrus	brain
28	chr10:49513800-49514000	Enhancers	Duodenum Mucosa	Duodenum
29	chr10:49513800-49514000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr10:49513800-49514000	Enhancers	Fetal Brain Male	brain
31	chr10:49513800-49514000	Enhancers	Fetal Lung	lung
32	chr10:49513800-49514000	Enhancers	Fetal Thymus	thymus
33	chr10:49513800-49514000	Enhancers	A549	lung
34	chr10:49513800-49514000	Bivalent Enhancer	HepG2	liver
35	chr10:49513800-49514000	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr10:49514000-49514200	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
37	chr10:49514000-49514200	Enhancers	H1 Cell Line	embryonic stem cell
38	chr10:49514000-49514200	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr10:49514000-49514200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr10:49514000-49514200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr10:49514000-49514200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr10:49514000-49514200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr10:49514000-49514200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
44	chr10:49514000-49514200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr10:49514000-49514200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr10:49514000-49514200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
47	chr10:49514000-49514200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr10:49514000-49514200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr10:49514000-49514200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr10:49514000-49514200	Enhancers	Primary monocytes fromperipheralblood	blood

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