Variant report

Variant	esv3340017
Chromosome Location	chr10:99530387-99533135
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	BHLHE40	chr10:99532016-99532206	K562	blood:	n/a	n/a
2	CBX3	chr10:99531895-99532196	K562	blood:	n/a	n/a
3	CCNT2	chr10:99531813-99532243	K562	blood:	n/a	chr10:99532032-99532052
4	CEBPD	chr10:99531801-99532350	K562	blood:	n/a	n/a
5	CHD1	chr10:99531263-99531389	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr10:99531380-99531530	SK-N-SH_RA	brain:	n/a	n/a
7	CTCF	chr10:99530820-99530970	HRPEpiC	eye:	n/a	chr10:99530848-99530861
8	CTCF	chr10:99530804-99530912	H1-hESC	embryonic stem cell:	n/a	chr10:99530848-99530861
9	CTCF	chr10:99531300-99531450	HepG2	liver:	n/a	n/a
10	CTCF	chr10:99531160-99531310	Caco-2	colon:	n/a	n/a
11	CTCF	chr10:99531458-99531561	NHEK	skin:	n/a	n/a
12	CTCF	chr10:99530780-99530930	WERI-Rb-1	eye:	n/a	chr10:99530848-99530861
13	CTCF	chr10:99530983-99531556	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr10:99531275-99531619	H1-hESC	embryonic stem cell:	n/a	chr10:99531595-99531608 chr10:99531594-99531610
15	CTCF	chr10:99530840-99530990	Caco-2	colon:	n/a	chr10:99530848-99530861
16	CTCF	chr10:99530840-99530990	HRPEpiC	eye:	n/a	chr10:99530848-99530861
17	CTCF	chr10:99531400-99531550	HEK293	kidney:	n/a	n/a
18	CTCF	chr10:99531320-99531470	HUVEC	blood vessel:	n/a	n/a
19	CTCF	chr10:99530820-99530970	A549	lung:	n/a	chr10:99530848-99530861
20	CTCF	chr10:99531280-99531430	HEK293	kidney:	n/a	n/a
21	CTCF	chr10:99531444-99531645	HepG2	liver:	n/a	chr10:99531595-99531608 chr10:99531594-99531610
22	CTCF	chr10:99530817-99530916	A549	lung:	n/a	chr10:99530848-99530861
23	CTCF	chr10:99531253-99531559	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr10:99531400-99531550	Caco-2	colon:	n/a	n/a
25	CTCF	chr10:99531440-99531590	HRPEpiC	eye:	n/a	n/a
26	CTCF	chr10:99531419-99531578	A549	lung:	n/a	n/a
27	CTCF	chr10:99531400-99531550	GM12874	blood:	n/a	n/a
28	CTCF	chr10:99530760-99530910	WERI-Rb-1	eye:	n/a	chr10:99530848-99530861
29	CTCF	chr10:99531380-99531530	WERI-Rb-1	eye:	n/a	n/a
30	CTCF	chr10:99531340-99531490	WERI-Rb-1	eye:	n/a	n/a
31	CTCFL	chr10:99531443-99531564	K562	blood:	n/a	n/a
32	CTCFL	chr10:99531469-99531559	K562	blood:	n/a	n/a
33	E2F6	chr10:99530687-99531625	H1-hESC	embryonic stem cell:	n/a	chr10:99530888-99530900 chr10:99531046-99531056
34	E2F6	chr10:99530705-99531438	A549	lung:	n/a	chr10:99530888-99530900 chr10:99531046-99531056
35	E2F6	chr10:99530672-99531697	H1-hESC	embryonic stem cell:	n/a	chr10:99530888-99530900 chr10:99531046-99531056
36	E2F6	chr10:99531685-99531858	K562	blood:	n/a	n/a
37	EGR1	chr10:99530867-99531022	K562	blood:	n/a	chr10:99530956-99530966 chr10:99530953-99530968 chr10:99530955-99530966 chr10:99530954-99530968 chr10:99530954-99530967 chr10:99530954-99530967 chr10:99530956-99530966
38	EGR1	chr10:99530863-99531084	K562	blood:	n/a	chr10:99530956-99530966 chr10:99530953-99530968 chr10:99530955-99530966 chr10:99530954-99530968 chr10:99530954-99530967 chr10:99530954-99530967 chr10:99530956-99530966
39	EP300	chr10:99531946-99532198	K562	blood:	n/a	n/a
40	GABPA	chr10:99531025-99531727	H1-hESC	embryonic stem cell:	n/a	chr10:99531033-99531042
41	GABPA	chr10:99530988-99531552	H1-hESC	embryonic stem cell:	n/a	chr10:99531033-99531042
42	GATA1	chr10:99531699-99532503	PBDE	blood:	n/a	chr10:99532088-99532097 chr10:99532081-99532102 chr10:99532034-99532041 chr10:99532027-99532048 chr10:99532035-99532052 chr10:99532033-99532043 chr10:99532087-99532097 chr10:99532034-99532043
43	GATA1	chr10:99531814-99532262	K562	blood:	n/a	chr10:99532088-99532097 chr10:99532081-99532102 chr10:99532034-99532041 chr10:99532027-99532048 chr10:99532035-99532052 chr10:99532033-99532043 chr10:99532087-99532097 chr10:99532034-99532043
44	GATA1	chr10:99531879-99532245	K562	blood:	n/a	chr10:99532088-99532097 chr10:99532081-99532102 chr10:99532034-99532041 chr10:99532027-99532048 chr10:99532035-99532052 chr10:99532033-99532043 chr10:99532087-99532097 chr10:99532034-99532043
45	GATA2	chr10:99531905-99532265	K562	blood:	n/a	chr10:99532088-99532097 chr10:99532081-99532102 chr10:99532034-99532041 chr10:99532027-99532048 chr10:99532035-99532052 chr10:99532033-99532043 chr10:99532087-99532097 chr10:99532034-99532043
46	GATA2	chr10:99531894-99532172	K562	blood:	n/a	chr10:99532088-99532097 chr10:99532081-99532102 chr10:99532034-99532041 chr10:99532027-99532048 chr10:99532035-99532052 chr10:99532033-99532043 chr10:99532087-99532097 chr10:99532034-99532043
47	GATA2	chr10:99531844-99532247	K562	blood:	n/a	chr10:99532088-99532097 chr10:99532081-99532102 chr10:99532034-99532041 chr10:99532027-99532048 chr10:99532035-99532052 chr10:99532033-99532043 chr10:99532087-99532097 chr10:99532034-99532043
48	GTF2F1	chr10:99531221-99531397	H1-hESC	embryonic stem cell:	n/a	n/a
49	HDAC2	chr10:99531872-99532238	K562	blood:	n/a	chr10:99532087-99532096 chr10:99532033-99532042
50	HDAC2	chr10:99531077-99531515	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:99530944-99530994	CMK	blood:	n/a
2	chr10:99531164-99531214	SK-N-SH	brain:	n/a
3	chr10:99531934-99531984	GM12891	blood:	n/a
4	chr10:99531164-99531214	HEEpiC	esophagus:	n/a
5	chr10:99531929-99531979	GM12878	blood:	n/a
6	chr10:99532174-99532224	BJ	skin:	n/a
7	chr10:99531164-99531214	Caco-2	colon:	n/a
8	chr10:99531309-99531359	AG10803	skin:	n/a
9	chr10:99532386-99532436	SK-N-MC	brain:	n/a
10	chr10:99531038-99531088	NT2-D1	testis:	n/a
11	chr10:99531929-99531979	HMEC	breast:	n/a
12	chr10:99531790-99531840	HRCEpiC	kidney:	n/a
13	chr10:99530944-99530994	HRCEpiC	kidney:	n/a
14	chr10:99531934-99531984	HEEpiC	esophagus:	n/a
15	chr10:99532138-99532188	AG04449	skin:	fetal
16	chr10:99530944-99530994	HepG2	liver:	n/a
17	chr10:99531929-99531979	AG04450	lung:	fetal
18	chr10:99531416-99531466	SK-N-SH_RA	brain:	n/a
19	chr10:99532398-99532448	ovcar-3	ovarian:	n/a
20	chr10:99531164-99531214	T-47D	breast:	n/a
21	chr10:99531929-99531979	HCT-116	colon:	n/a
22	chr10:99532410-99532460	HNPCEpiC	eye:	n/a
23	chr10:99531879-99531929	HCM	heart:	n/a
24	chr10:99532410-99532460	A549	lung:	n/a
25	chr10:99531765-99531815	Hepatocyte	liver:	n/a
26	chr10:99531929-99531979	A549	lung:	n/a
27	chr10:99532174-99532224	Jurkat	blood:	n/a
28	chr10:99531790-99531840	NHBE	bronchial:	n/a
29	chr10:99531765-99531815	GM06990	blood:	n/a
30	chr10:99531797-99531847	Jurkat	blood:	n/a
31	chr10:99532367-99532417	GM12891	blood:	n/a
32	chr10:99531164-99531214	BJ	skin:	n/a
33	chr10:99532138-99532188	HL-60	blood:	n/a
34	chr10:99530944-99530994	HEEpiC	esophagus:	n/a
35	chr10:99532174-99532224	HMEC	breast:	n/a
36	chr10:99532138-99532188	HMEC	breast:	n/a
37	chr10:99531929-99531979	NB4	blood:	n/a
38	chr10:99532386-99532436	HRCEpiC	kidney:	n/a
39	chr10:99531038-99531088	AG04450	lung:	fetal
40	chr10:99532398-99532448	HRCEpiC	kidney:	n/a
41	chr10:99532367-99532417	SK-N-SH_RA	brain:	n/a
42	chr10:99532138-99532188	A549	lung:	n/a
43	chr10:99532138-99532188	ProgFib	skin:	n/a
44	chr10:99531934-99531984	ECC-1	luminal epithelium:	n/a
45	chr10:99532386-99532436	CMK	blood:	n/a
46	chr10:99531934-99531984	MCF10A-Er-Src	breast:	n/a
47	chr10:99531309-99531359	SK-N-MC	brain:	n/a
48	chr10:99532398-99532448	HEK293	kidney:	embryo
49	chr10:99531645-99531695	HCF	heart:	n/a
50	chr10:99531164-99531214	U87	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:99532050..99535019-chr10:99556525..99559410,2	K562	blood:
2	chr10:99522811..99525043-chr10:99528774..99531185,2	K562	blood:
3	chr10:99526747..99528824-chr10:99529529..99531423,2	MCF-7	breast:

Variant related genes	Relation type
SFRP5	TF binding region
SFRP5	CpG island

Extended variants
information (count: 99 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555691837	chr10:99530394-99530395	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs539398107	chr10:99530403-99530404	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs181385257	chr10:99530423-99530424	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs541790727	chr10:99530440-99530441	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs560064054	chr10:99530479-99530480	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs533604023	chr10:99530500-99530501	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs545586957	chr10:99530510-99530511	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs547622575	chr10:99530572-99530573	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs368544167	chr10:99530617-99530618	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564050443	chr10:99530642-99530643	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34292330	chr10:99530740-99530741	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531391124	chr10:99530750-99530751	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549522664	chr10:99530753-99530754	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73324696	chr10:99530758-99530759	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs185820953	chr10:99530759-99530760	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547321868	chr10:99530839-99530840	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4244330	chr10:99530851-99530852	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs368948285	chr10:99530894-99530895	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539269598	chr10:99530924-99530925	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112460945	chr10:99530944-99530945	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370611399	chr10:99530945-99530946	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541147786	chr10:99530946-99530947	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4488136	chr10:99530963-99530964	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs61861695	chr10:99530964-99530965	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189117510	chr10:99530989-99530990	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555046614	chr10:99530999-99531000	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537589928	chr10:99531026-99531027	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555574341	chr10:99531034-99531035	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574003374	chr10:99531041-99531042	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541424427	chr10:99531130-99531131	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139922168	chr10:99531153-99531154	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553721430	chr10:99531171-99531172	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149823710	chr10:99531185-99531186	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545621977	chr10:99531203-99531204	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532923513	chr10:99531213-99531214	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369132050	chr10:99531215-99531216	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs374250918	chr10:99531223-99531224	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs145515400	chr10:99531239-99531240	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs377065101	chr10:99531249-99531250	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs199937111	chr10:99531253-99531254	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs373306535	chr10:99531261-99531262	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs143647630	chr10:99531284-99531285	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs200715195	chr10:99531301-99531302	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561606395	chr10:99531330-99531331	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528874507	chr10:99531409-99531410	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs546960094	chr10:99531460-99531461	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs34203191	chr10:99531483-99531484	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs559224634	chr10:99531555-99531556	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs12774287	chr10:99531556-99531557	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs12775414	chr10:99531557-99531558	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
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
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
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	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
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Paraganglioma	17535989	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Glioblastoma multiforme	17002787	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21364760	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Colorectal cancer	16912164	CNVD
Autosomal dominant partial epilepsy	18472482	CNVD
Breast cancer	16397240	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD

Chromatin state (count:294 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99520400-99530400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr10:99522200-99530800	Weak transcription	Right Ventricle	heart
3	chr10:99522600-99530400	Weak transcription	Primary T cells from cord blood	blood
4	chr10:99523200-99530400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr10:99525000-99530400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr10:99525800-99530400	Weak transcription	HSMM	muscle
7	chr10:99526400-99531200	Weak transcription	K562	blood
8	chr10:99527600-99530600	Weak transcription	Gastric	stomach
9	chr10:99529600-99531400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
10	chr10:99529800-99530400	Active TSS	Pancreas	Pancrea
11	chr10:99530000-99530400	Bivalent Enhancer	Fetal Intestine Large	intestine
12	chr10:99530000-99531400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
13	chr10:99530200-99530400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
14	chr10:99530200-99530800	Active TSS	Right Atrium	heart
15	chr10:99530200-99531000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
16	chr10:99530200-99531200	Bivalent Enhancer	Fetal Thymus	thymus
17	chr10:99530200-99532200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
18	chr10:99530400-99530600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
19	chr10:99530400-99530600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
20	chr10:99530400-99530600	Flanking Bivalent TSS/Enh	Pancreatic Islets	Pancreatic Islet
21	chr10:99530400-99530600	Bivalent Enhancer	A549	lung
22	chr10:99530400-99530800	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
23	chr10:99530400-99530800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
24	chr10:99530400-99530800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
25	chr10:99530400-99530800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
26	chr10:99530400-99530800	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
27	chr10:99530400-99530800	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
28	chr10:99530400-99530800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
29	chr10:99530400-99530800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
30	chr10:99530400-99531000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
31	chr10:99530400-99531000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
32	chr10:99530400-99531000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr10:99530400-99531000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr10:99530400-99531000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr10:99530400-99531000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr10:99530400-99531000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr10:99530400-99531000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
38	chr10:99530400-99531200	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr10:99530400-99531400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
40	chr10:99530400-99531400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
41	chr10:99530400-99531400	Bivalent Enhancer	Fetal Brain Male	brain
42	chr10:99530400-99531400	Flanking Active TSS	Pancreas	Pancrea
43	chr10:99530400-99532200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
44	chr10:99530600-99530800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr10:99530600-99530800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
46	chr10:99530600-99530800	Flanking Bivalent TSS/Enh	Brain Angular Gyrus	brain
47	chr10:99530600-99530800	Bivalent Enhancer	Brain Germinal Matrix	brain
48	chr10:99530600-99530800	Bivalent Enhancer	Brain Hippocampus Middle	brain
49	chr10:99530600-99530800	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
50	chr10:99530600-99530800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum

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