Variant report

Variant	esv3390726
Chromosome Location	chr10:99530862-99532860
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	chr10:99530983-99531556	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr10:99530780-99530930	WERI-Rb-1	eye:	n/a	chr10:99530848-99530861
8	CTCF	chr10:99531400-99531550	HEK293	kidney:	n/a	n/a
9	CTCF	chr10:99530817-99530916	A549	lung:	n/a	chr10:99530848-99530861
10	CTCF	chr10:99531160-99531310	Caco-2	colon:	n/a	n/a
11	CTCF	chr10:99531400-99531550	GM12874	blood:	n/a	n/a
12	CTCF	chr10:99531380-99531530	SK-N-SH_RA	brain:	n/a	n/a
13	CTCF	chr10:99530840-99530990	HRPEpiC	eye:	n/a	chr10:99530848-99530861
14	CTCF	chr10:99531419-99531578	A549	lung:	n/a	n/a
15	CTCF	chr10:99531340-99531490	WERI-Rb-1	eye:	n/a	n/a
16	CTCF	chr10:99531320-99531470	HUVEC	blood vessel:	n/a	n/a
17	CTCF	chr10:99531275-99531619	H1-hESC	embryonic stem cell:	n/a	chr10:99531595-99531608 chr10:99531594-99531610
18	CTCF	chr10:99531300-99531450	HepG2	liver:	n/a	n/a
19	CTCF	chr10:99530760-99530910	WERI-Rb-1	eye:	n/a	chr10:99530848-99530861
20	CTCF	chr10:99531444-99531645	HepG2	liver:	n/a	chr10:99531595-99531608 chr10:99531594-99531610
21	CTCF	chr10:99531253-99531559	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr10:99530820-99530970	A549	lung:	n/a	chr10:99530848-99530861
23	CTCF	chr10:99531400-99531550	Caco-2	colon:	n/a	n/a
24	CTCF	chr10:99531440-99531590	HRPEpiC	eye:	n/a	n/a
25	CTCF	chr10:99531380-99531530	WERI-Rb-1	eye:	n/a	n/a
26	CTCF	chr10:99531280-99531430	HEK293	kidney:	n/a	n/a
27	CTCF	chr10:99530804-99530912	H1-hESC	embryonic stem cell:	n/a	chr10:99530848-99530861
28	CTCF	chr10:99530820-99530970	HRPEpiC	eye:	n/a	chr10:99530848-99530861
29	CTCF	chr10:99530840-99530990	Caco-2	colon:	n/a	chr10:99530848-99530861
30	CTCF	chr10:99531458-99531561	NHEK	skin:	n/a	n/a
31	CTCFL	chr10:99531469-99531559	K562	blood:	n/a	n/a
32	CTCFL	chr10:99531443-99531564	K562	blood:	n/a	n/a
33	E2F6	chr10:99530705-99531438	A549	lung:	n/a	chr10:99530888-99530900 chr10:99531046-99531056
34	E2F6	chr10:99530687-99531625	H1-hESC	embryonic stem cell:	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	chr10:99530863-99531084	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
38	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
39	EP300	chr10:99531946-99532198	K562	blood:	n/a	n/a
40	GABPA	chr10:99530988-99531552	H1-hESC	embryonic stem cell:	n/a	chr10:99531033-99531042
41	GABPA	chr10:99531025-99531727	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	chr10:99531879-99532245	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
44	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
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	chr10:99531077-99531515	HepG2	liver:	n/a	n/a
50	HDAC2	chr10:99531872-99532238	K562	blood:	n/a	chr10:99532087-99532096 chr10:99532033-99532042

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:99532367-99532417	HIPEpiC	eye:	n/a
2	chr10:99532386-99532436	GM12891	blood:	n/a
3	chr10:99532636-99532686	GM12878	blood:	n/a
4	chr10:99532367-99532417	HIPEpiC	eye:	n/a
5	chr10:99532386-99532436	GM12891	blood:	n/a
6	chr10:99532636-99532686	GM12878	blood:	n/a
7	chr10:99531747-99531797	K562	blood:	n/a
8	chr10:99531645-99531695	HUVEC	blood vessel:	n/a
9	chr10:99531929-99531979	NH-A	brain:	n/a
10	chr10:99531416-99531466	HEEpiC	esophagus:	n/a
11	chr10:99532410-99532460	HCT-116	colon:	n/a
12	chr10:99531790-99531840	HEEpiC	esophagus:	n/a
13	chr10:99530944-99530994	HCPEpiC	choroid plexus:	n/a
14	chr10:99532636-99532686	HEEpiC	esophagus:	n/a
15	chr10:99531790-99531840	K562	blood:	n/a
16	chr10:99530944-99530994	MCF-7	breast:	n/a
17	chr10:99531038-99531088	SK-N-MC	brain:	n/a
18	chr10:99531797-99531847	K562	blood:	n/a
19	chr10:99531929-99531979	NHBE	bronchial:	n/a
20	chr10:99531934-99531984	MCF-7	breast:	n/a
21	chr10:99531038-99531088	AoSMC	blood vessel:	n/a
22	chr10:99531765-99531815	NHBE	bronchial:	n/a
23	chr10:99531934-99531984	GM06990	blood:	n/a
24	chr10:99531164-99531214	H1-hESC	embryonic stem cell:	embryo
25	chr10:99531164-99531214	NHDF-neo	bronchial:	n/a
26	chr10:99532367-99532417	GM12892	blood:	n/a
27	chr10:99532367-99532417	SK-N-SH	brain:	n/a
28	chr10:99531416-99531466	GM12878	blood:	n/a
29	chr10:99531934-99531984	Jurkat	blood:	n/a
30	chr10:99532174-99532224	PFSK-1	brain:	n/a
31	chr10:99531929-99531979	SK-N-SH	brain:	n/a
32	chr10:99531879-99531929	HCPEpiC	choroid plexus:	n/a
33	chr10:99532386-99532436	AG09319	gingival:	n/a
34	chr10:99531879-99531929	HEK293	kidney:	embryo
35	chr10:99532636-99532686	LNCaP	prostate:	n/a
36	chr10:99531038-99531088	A549	lung:	n/a
37	chr10:99531645-99531695	HNPCEpiC	eye:	n/a
38	chr10:99531790-99531840	A549	lung:	n/a
39	chr10:99532386-99532436	HCF	heart:	n/a
40	chr10:99531309-99531359	HAEpiC	amniotic membrane:	n/a
41	chr10:99532398-99532448	T-47D	breast:	n/a
42	chr10:99531164-99531214	HNPCEpiC	eye:	n/a
43	chr10:99531164-99531214	SK-N-MC	brain:	n/a
44	chr10:99532138-99532188	AG10803	skin:	n/a
45	chr10:99531038-99531088	AG10803	skin:	n/a
46	chr10:99531747-99531797	SK-N-MC	brain:	n/a
47	chr10:99531645-99531695	AG09309	skin:	n/a
48	chr10:99532138-99532188	BJ	skin:	n/a
49	chr10:99532386-99532436	NH-A	brain:	n/a
50	chr10:99532174-99532224	A549	lung:	n/a

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

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

Extended variants
information (count: 74 )
Associated
traits (count: 58 )

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	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	rs11815012	chr10:99531571-99531572	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs374981598	chr10:99531593-99531594	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs372535710	chr10:99531690-99531691	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555996712	chr10:99531695-99531696	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs11189367	chr10:99531747-99531748	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs7097247	chr10:99531949-99531950	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs532669098	chr10:99532008-99532009	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs546494113	chr10:99532013-99532014	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs140323562	chr10:99532038-99532039	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs535042015	chr10:99532048-99532049	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs553358596	chr10:99532067-99532068	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs578252946	chr10:99532081-99532082	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs7081652	chr10:99532108-99532109	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs369664653	chr10:99532140-99532141	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
48	rs377575842	chr10:99532142-99532143	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
49	rs557368629	chr10:99532146-99532147	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
50	rs562710335	chr10:99532159-99532160	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	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:261 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99526400-99531200	Weak transcription	K562	blood
2	chr10:99529600-99531400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
3	chr10:99530000-99531400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
4	chr10:99530200-99531000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
5	chr10:99530200-99531200	Bivalent Enhancer	Fetal Thymus	thymus
6	chr10:99530200-99532200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
7	chr10:99530400-99531000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
8	chr10:99530400-99531000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
9	chr10:99530400-99531000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr10:99530400-99531000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr10:99530400-99531000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr10:99530400-99531000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr10:99530400-99531000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr10:99530400-99531000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
15	chr10:99530400-99531200	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr10:99530400-99531400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
17	chr10:99530400-99531400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
18	chr10:99530400-99531400	Bivalent Enhancer	Fetal Brain Male	brain
19	chr10:99530400-99531400	Flanking Active TSS	Pancreas	Pancrea
20	chr10:99530400-99532200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
21	chr10:99530600-99531000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr10:99530600-99531000	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr10:99530600-99531000	Bivalent Enhancer	Primary B cells from cord blood	blood
24	chr10:99530600-99531000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
25	chr10:99530600-99531000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr10:99530600-99531000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr10:99530600-99531000	Bivalent Enhancer	Fetal Heart	heart
28	chr10:99530600-99531000	Active TSS	Gastric	stomach
29	chr10:99530600-99531000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
30	chr10:99530600-99531000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
31	chr10:99530600-99531000	Flanking Bivalent TSS/Enh	A549	lung
32	chr10:99530600-99531200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
33	chr10:99530600-99531200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
34	chr10:99530600-99531200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
35	chr10:99530600-99531200	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
36	chr10:99530600-99531200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
37	chr10:99530600-99531200	Bivalent Enhancer	Fetal Muscle Leg	muscle
38	chr10:99530600-99531200	Bivalent Enhancer	Fetal Stomach	stomach
39	chr10:99530600-99531400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr10:99530600-99531400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
41	chr10:99530600-99531400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
42	chr10:99530600-99531400	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
43	chr10:99530600-99531400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr10:99530600-99531400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
45	chr10:99530600-99531600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
46	chr10:99530600-99531600	Bivalent/Poised TSS	HSMM	muscle
47	chr10:99530600-99532000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr10:99530600-99532000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
49	chr10:99530600-99532200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
50	chr10:99530600-99532200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell

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