Variant report

Variant	esv3333968
Chromosome Location	chr10:6242696-6244844
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1016)
CpG islands
(count:732)
Chromatin interactive
region (count:34)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1016 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr10:6244659-6244974	HepG2	liver:	n/a	n/a
2	ATF2	chr10:6244540-6245087	GM12878	blood:	n/a	n/a
3	ATF2	chr10:6244639-6245307	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr10:6244554-6245048	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr10:6244522-6245165	GM12878	blood:	n/a	n/a
6	ATF3	chr10:6244678-6245652	A549	lung:	n/a	n/a
7	ATF3	chr10:6244539-6245857	A549	lung:	n/a	n/a
8	BACH1	chr10:6243488-6243739	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr10:6244399-6244934	H1-hESC	embryonic stem cell:	n/a	n/a
10	BCL3	chr10:6244502-6246000	A549	lung:	n/a	n/a
11	BCL3	chr10:6244149-6246037	A549	lung:	n/a	chr10:6244163-6244172 chr10:6244326-6244339
12	BCL3	chr10:6243556-6244089	A549	lung:	n/a	n/a
13	BCLAF1	chr10:6244502-6245159	GM12878	blood:	n/a	n/a
14	BCLAF1	chr10:6243597-6243955	GM12878	blood:	n/a	n/a
15	BCLAF1	chr10:6244410-6245414	GM12878	blood:	n/a	n/a
16	BHLHE40	chr10:6243093-6243952	GM12878	blood:	n/a	chr10:6243555-6243571
17	BHLHE40	chr10:6243473-6243779	HepG2	liver:	n/a	chr10:6243555-6243571
18	BHLHE40	chr10:6244602-6245509	K562	blood:	n/a	n/a
19	BHLHE40	chr10:6244427-6245019	HepG2	liver:	n/a	n/a
20	BHLHE40	chr10:6244315-6245675	GM12878	blood:	n/a	n/a
21	BHLHE40	chr10:6242736-6242936	K562	blood:	n/a	n/a
22	BHLHE40	chr10:6243576-6243719	K562	blood:	n/a	n/a
23	BRCA1	chr10:6244615-6245031	GM12878	blood:	n/a	n/a
24	BRCA1	chr10:6244755-6245028	H1-hESC	embryonic stem cell:	n/a	n/a
25	BRCA1	chr10:6244677-6244873	HepG2	liver:	n/a	n/a
26	BRCA1	chr10:6244729-6245030	Hela-S3	cervix:	n/a	n/a
27	CBX3	chr10:6244683-6244986	K562	blood:	n/a	n/a
28	CBX3	chr10:6244563-6245116	K562	blood:	n/a	n/a
29	CCNT2	chr10:6243531-6243731	K562	blood:	n/a	n/a
30	CCNT2	chr10:6244619-6245740	K562	blood:	n/a	n/a
31	CCNT2	chr10:6242939-6243129	K562	blood:	n/a	chr10:6243109-6243118
32	CEBPB	chr10:6244577-6245343	A549	lung:	n/a	n/a
33	CEBPB	chr10:6244649-6245050	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr10:6244684-6244823	HepG2	liver:	n/a	n/a
35	CEBPB	chr10:6244636-6245051	H1-hESC	embryonic stem cell:	n/a	n/a
36	CEBPD	chr10:6244766-6245041	HepG2	liver:	n/a	n/a
37	CEBPD	chr10:6244671-6245059	HepG2	liver:	n/a	n/a
38	CHD1	chr10:6244439-6245854	GM12878	blood:	n/a	n/a
39	CHD1	chr10:6243582-6243797	GM12878	blood:	n/a	n/a
40	CHD1	chr10:6244151-6247539	IMR90	lung:	n/a	n/a
41	CHD1	chr10:6242741-6242935	GM12878	blood:	n/a	n/a
42	CHD2	chr10:6244468-6245053	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD2	chr10:6243149-6243349	H1-hESC	embryonic stem cell:	n/a	n/a
44	CHD2	chr10:6243776-6243807	H1-hESC	embryonic stem cell:	n/a	n/a
45	CHD2	chr10:6243189-6243424	HepG2	liver:	n/a	n/a
46	CHD2	chr10:6244277-6245008	K562	blood:	n/a	n/a
47	CHD2	chr10:6242824-6245522	GM12878	blood:	n/a	n/a
48	CHD2	chr10:6244315-6245201	Hela-S3	cervix:	n/a	n/a
49	CHD2	chr10:6243765-6243846	HepG2	liver:	n/a	n/a
50	CHD2	chr10:6244592-6244995	HepG2	liver:	n/a	n/a

(count:732 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:6244686-6244736	HMEC	breast:	n/a
2	chr10:6242747-6242797	HMEC	breast:	n/a
3	chr10:6243791-6243841	MCF10A-Er-Src	breast:	n/a
4	chr10:6244643-6244693	AG09319	gingival:	n/a
5	chr10:6244514-6244564	LNCaP	prostate:	n/a
6	chr10:6244684-6244734	HepG2	liver:	n/a
7	chr10:6244293-6244343	K562	blood:	n/a
8	chr10:6243955-6244005	HUVEC	blood vessel:	n/a
9	chr10:6243955-6244005	AG10803	skin:	n/a
10	chr10:6244293-6244343	NH-A	brain:	n/a
11	chr10:6244514-6244564	HIPEpiC	eye:	n/a
12	chr10:6244684-6244734	AG04449	skin:	fetal
13	chr10:6243955-6244005	CMK	blood:	n/a
14	chr10:6243880-6243930	HMEC	breast:	n/a
15	chr10:6244643-6244693	MCF-7	breast:	n/a
16	chr10:6243955-6244005	SK-N-SH_RA	brain:	n/a
17	chr10:6243880-6243930	AG09319	gingival:	n/a
18	chr10:6244010-6244060	GM06990	blood:	n/a
19	chr10:6244686-6244736	PrEC	prostate:	n/a
20	chr10:6243561-6243611	HCM	heart:	n/a
21	chr10:6243561-6243611	SAEC	small airway:	n/a
22	chr10:6243291-6243341	HNPCEpiC	eye:	n/a
23	chr10:6244293-6244343	Jurkat	blood:	n/a
24	chr10:6243291-6243341	HCM	heart:	n/a
25	chr10:6244293-6244343	GM12878	blood:	n/a
26	chr10:6244293-6244343	PANC-1	pancreas:	n/a
27	chr10:6244684-6244734	GM12878	blood:	n/a
28	chr10:6243955-6244005	SK-N-MC	brain:	n/a
29	chr10:6243955-6244005	PFSK-1	brain:	n/a
30	chr10:6244010-6244060	HCT-116	colon:	n/a
31	chr10:6243791-6243841	Jurkat	blood:	n/a
32	chr10:6244293-6244343	GM19239	blood:	n/a
33	chr10:6242747-6242797	HAEpiC	amniotic membrane:	n/a
34	chr10:6243955-6244005	ovcar-3	ovarian:	n/a
35	chr10:6243955-6244005	K562	blood:	n/a
36	chr10:6243955-6244005	A549	lung:	n/a
37	chr10:6243880-6243930	HCPEpiC	choroid plexus:	n/a
38	chr10:6244514-6244564	K562	blood:	n/a
39	chr10:6244514-6244564	PANC-1	pancreas:	n/a
40	chr10:6244686-6244736	AG10803	skin:	n/a
41	chr10:6244686-6244736	HCPEpiC	choroid plexus:	n/a
42	chr10:6244514-6244564	HPAEpiC	pulmonary alveolar:	n/a
43	chr10:6244684-6244734	HRPEpiC	eye:	n/a
44	chr10:6242747-6242797	AoSMC	blood vessel:	n/a
45	chr10:6243791-6243841	SK-N-SH	brain:	n/a
46	chr10:6244643-6244693	GM12892	blood:	n/a
47	chr10:6244686-6244736	GM12878	blood:	n/a
48	chr10:6242747-6242797	ECC-1	luminal epithelium:	n/a
49	chr10:6243791-6243841	HRPEpiC	eye:	n/a
50	chr10:6242747-6242797	ProgFib	skin:	n/a

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:6243696..6246547-chr17:56707857..56709473,2	MCF-7	breast:
2	chr10:6242059..6244389-chr6:31867421..31869441,2	MCF-7	breast:
3	chr10:6244775..6245298-chr10:99205705..99206213,2	Hela-S3	cervix:
4	chr10:6244775..6245295-chr11:67195896..67196459,2	Hela-S3	cervix:
5	chr10:6239790..6243643-chr10:6244316..6247669,6	K562	blood:
6	chr10:6128377..6132115-chr10:6241834..6247197,6	MCF-7	breast:
7	chr10:6149065..6151002-chr10:6243111..6244731,2	K562	blood:
8	chr10:6241225..6242996-chr3:9850651..9852489,2	MCF-7	breast:
9	chr10:6149112..6154904-chr10:6241492..6247373,13	MCF-7	breast:
10	chr10:6183938..6190482-chr10:6242008..6247032,17	MCF-7	breast:
11	chr10:6242271..6242899-chr10:6339702..6340282,2	MCF-7	breast:
12	chr10:6243668..6247308-chr10:6319585..6323356,5	MCF-7	breast:
13	chr10:6242075..6244740-chr10:27530620..27532882,2	MCF-7	breast:
14	chr10:6237461..6239091-chr10:6241197..6244129,2	K562	blood:
15	chr10:6152733..6154775-chr10:6241861..6244257,2	K562	blood:
16	chr10:6236526..6239091-chr10:6241197..6242988,2	K562	blood:
17	chr10:6129204..6131748-chr10:6244207..6246414,2	K562	blood:
18	chr10:6244071..6246577-chr11:62606915..62609638,2	MCF-7	breast:
19	chr10:6183735..6189299-chr10:6241759..6246920,10	MCF-7	breast:
20	chr10:6129825..6133257-chr10:6241985..6247329,10	MCF-7	breast:
21	chr10:6145584..6148508-chr10:6244741..6246500,2	MCF-7	breast:
22	chr10:5935195..5937102-chr10:6243588..6245241,2	MCF-7	breast:
23	chr10:5930925..5933506-chr10:6244058..6246915,2	MCF-7	breast:
24	chr10:6186531..6187074-chr10:6244769..6245442,2	MCF-7	breast:
25	chr10:6189894..6192661-chr10:6244759..6246996,2	MCF-7	breast:
26	chr10:6242739..6248482-chr10:6257769..6263853,7	MCF-7	breast:
27	chr10:6242187..6248014-chr10:6262246..6271624,18	MCF-7	breast:
28	chr10:6244444..6246172-chr11:60928588..60930441,2	MCF-7	breast:
29	chr10:6137316..6139736-chr10:6243153..6245060,3	MCF-7	breast:
30	chr10:6193518..6195996-chr10:6241964..6244930,2	MCF-7	breast:
31	chr10:6234379..6237357-chr10:6241010..6243643,2	K562	blood:
32	chr10:6244272..6246403-chr13:37573169..37575216,2	MCF-7	breast:
33	chr10:6242978..6244543-chr10:129751150..129752763,2	MCF-7	breast:
34	chr10:6149017..6157788-chr10:6241652..6246346,17	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IL2RA-3	chr10:6244403-6244656	ENSG00000213994.3

No data

Variant related genes	Relation type
ENSG00000213994	TF binding region
PFKFB3	TF binding region
ENSG00000213994	CpG island
PFKFB3	CpG island
ENSG00000263628	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000134453	chromatin interactions
ENSG00000170525	chromatin interactions
ENSG00000134461	chromatin interactions
ENSG00000120699	chromatin interactions
ENSG00000213994	chromatin interactions
ENSG00000120697	chromatin interactions
ENSG00000171307	chromatin interactions
ENSG00000201581	chromatin interactions
ENSG00000171311	chromatin interactions
ENSG00000214021	chromatin interactions
ENSG00000134452	chromatin interactions
ENSG00000215244	chromatin interactions
ENSG00000166278	chromatin interactions
ENSG00000262412	chromatin interactions
ENSG00000167987	chromatin interactions
ENSG00000107897	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000175634	chromatin interactions

Extended variants
information (count: 71 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12218879	chr10:6242703-6242704	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
2	rs141528345	chr10:6242737-6242738	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs561387454	chr10:6242776-6242777	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs531633939	chr10:6242790-6242791	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs550117443	chr10:6242810-6242811	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs368250048	chr10:6242830-6242831	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs114077194	chr10:6242837-6242838	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs551256756	chr10:6242872-6242873	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs545731140	chr10:6242882-6242883	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs566211799	chr10:6242966-6242967	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs188404919	chr10:6242995-6242996	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs533944559	chr10:6243044-6243045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs536720736	chr10:6243075-6243076	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs555170309	chr10:6243093-6243094	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs567326061	chr10:6243099-6243100	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs192240696	chr10:6243151-6243152	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs556228873	chr10:6243179-6243180	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs113757458	chr10:6243219-6243220	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs539383211	chr10:6243233-6243234	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs555047785	chr10:6243236-6243237	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs370804907	chr10:6243280-6243281	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs113004308	chr10:6243363-6243364	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs554466943	chr10:6243382-6243383	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs572556867	chr10:6243383-6243384	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs188612129	chr10:6243396-6243397	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs561244881	chr10:6243450-6243451	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs146950649	chr10:6243561-6243562	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs543491474	chr10:6243576-6243577	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs564987093	chr10:6243616-6243617	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs532361734	chr10:6243655-6243656	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs543763562	chr10:6243665-6243666	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs138018993	chr10:6243670-6243671	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs527512643	chr10:6243685-6243686	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs112676644	chr10:6243709-6243710	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
35	rs672376	chr10:6243742-6243743	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs567333463	chr10:6243756-6243757	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
37	rs537972700	chr10:6243847-6243848	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
38	rs577383406	chr10:6243848-6243849	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
39	rs3814192	chr10:6243976-6243977	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs193256210	chr10:6243985-6243986	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
41	rs35413444	chr10:6244017-6244018	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
42	rs11815715	chr10:6244042-6244043	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
43	rs536532041	chr10:6244043-6244044	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs188890760	chr10:6244061-6244062	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
45	rs576560060	chr10:6244072-6244073	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
46	rs17136780	chr10:6244161-6244162	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
47	rs143380391	chr10:6244183-6244184	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
48	rs147151293	chr10:6244198-6244199	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
49	rs67308211	chr10:6244278-6244279	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
50	rs143554701	chr10:6244284-6244285	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Ovarian cancer	22355333	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:514 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6207000-6244400	Weak transcription	Hela-S3	cervix
2	chr10:6222800-6242800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr10:6234800-6242800	Weak transcription	Primary B cells from peripheral blood	blood
4	chr10:6237400-6242800	Weak transcription	Aorta	Aorta
5	chr10:6237600-6242800	Weak transcription	Small Intestine	intestine
6	chr10:6237600-6243600	Weak transcription	HSMMtube	muscle
7	chr10:6237800-6242800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr10:6238000-6242800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr10:6238000-6242800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr10:6238400-6242800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr10:6238400-6242800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr10:6238600-6242800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr10:6238600-6242800	Weak transcription	Brain Hippocampus Middle	brain
14	chr10:6238600-6242800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr10:6239400-6242800	Weak transcription	Ovary	ovary
16	chr10:6239800-6242800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr10:6240000-6242800	Weak transcription	Colon Smooth Muscle	Colon
18	chr10:6240800-6242800	Enhancers	Liver	Liver
19	chr10:6241000-6242800	Enhancers	Fetal Muscle Leg	muscle
20	chr10:6241200-6242800	Enhancers	Gastric	stomach
21	chr10:6241200-6242800	Enhancers	Left Ventricle	heart
22	chr10:6241200-6242800	Enhancers	Right Ventricle	heart
23	chr10:6241800-6242800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr10:6241800-6242800	Weak transcription	Right Atrium	heart
25	chr10:6241800-6243000	Enhancers	Stomach Mucosa	stomach
26	chr10:6241800-6243200	Flanking Active TSS	Dnd41	blood
27	chr10:6242000-6242800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr10:6242000-6242800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr10:6242000-6242800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr10:6242000-6242800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr10:6242000-6242800	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr10:6242000-6243200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr10:6242000-6243200	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr10:6242200-6242800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr10:6242200-6242800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr10:6242200-6242800	Enhancers	Esophagus	oesophagus
37	chr10:6242200-6242800	Bivalent Enhancer	Fetal Stomach	stomach
38	chr10:6242200-6242800	Enhancers	Lung	lung
39	chr10:6242200-6242800	Enhancers	Spleen	Spleen
40	chr10:6242200-6242800	Enhancers	HMEC	breast
41	chr10:6242200-6243200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr10:6242200-6243200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr10:6242200-6243600	Active TSS	Stomach Smooth Muscle	stomach
44	chr10:6242200-6244000	Enhancers	Fetal Heart	heart
45	chr10:6242400-6242800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr10:6242400-6242800	Active TSS	Primary B cells from cord blood	blood
47	chr10:6242400-6242800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr10:6242400-6242800	Active TSS	Duodenum Mucosa	Duodenum
49	chr10:6242400-6242800	Enhancers	NHLF	lung
50	chr10:6242400-6243000	Enhancers	Sigmoid Colon	Sigmoid Colon

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