Variant report

Variant	esv3392447
Chromosome Location	chr10:49731171-49733719
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	chr10:49732473-49732510	K562	blood:	n/a	n/a
2	ATF3	chr10:49731160-49731399	K562	blood:	n/a	n/a
3	BACH1	chr10:49732288-49732597	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr10:49731254-49732056	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr10:49731901-49732129	HepG2	liver:	n/a	n/a
6	BHLHE40	chr10:49732047-49732051	A549	lung:	n/a	n/a
7	BHLHE40	chr10:49731803-49732672	K562	blood:	n/a	chr10:49732501-49732517
8	BHLHE40	chr10:49731989-49732177	GM12878	blood:	n/a	n/a
9	CBX3	chr10:49732307-49732713	K562	blood:	n/a	n/a
10	CCNT2	chr10:49731218-49732631	K562	blood:	n/a	chr10:49731855-49731864 chr10:49732561-49732570 chr10:49731457-49731466
11	CHD2	chr10:49732389-49732581	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD2	chr10:49732396-49732714	K562	blood:	n/a	n/a
13	CHD2	chr10:49731511-49731788	K562	blood:	n/a	n/a
14	CREB1	chr10:49732303-49732701	A549	lung:	n/a	n/a
15	CTBP2	chr10:49731252-49732721	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr10:49732440-49732590	GM12866	blood:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
17	CTCF	chr10:49731960-49732110	GM12867	blood:	n/a	chr10:49732044-49732057
18	CTCF	chr10:49732440-49732590	GM12874	blood:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
19	CTCF	chr10:49732440-49732590	HEK293	kidney:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
20	CTCF	chr10:49732620-49732770	GM12864	blood:	n/a	n/a
21	CTCF	chr10:49732800-49732950	SAEC	small airway:	n/a	n/a
22	CTCF	chr10:49732411-49732594	MCF-7	breast:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
23	CTCF	chr10:49732372-49732608	HepG2	liver:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
24	CTCF	chr10:49732500-49732650	GM12873	blood:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
25	CTCF	chr10:49732420-49732570	HBMEC	blood vessel:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
26	CTCF	chr10:49732420-49732570	GM12871	blood:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
27	CTCF	chr10:49732361-49732660	GM12891	blood:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
28	CTCF	chr10:49731931-49732054	K562	blood:	n/a	n/a
29	CTCF	chr10:49732440-49732590	HRE	kidney:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
30	CTCF	chr10:49732420-49732570	HCT-116	colon:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
31	CTCF	chr10:49732480-49732630	GM12870	blood:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
32	CTCF	chr10:49732460-49732610	GM12870	blood:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
33	CTCF	chr10:49731560-49731710	HRE	kidney:	n/a	n/a
34	CTCF	chr10:49732420-49732570	GM12868	blood:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
35	CTCF	chr10:49732380-49732530	HFF-Myc	foreskin:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
36	CTCF	chr10:49731940-49732090	AG04449	skin:	n/a	chr10:49732044-49732057
37	CTCF	chr10:49732466-49732547	Kidney_OC	kidney:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
38	CTCF	chr10:49732380-49732530	Hela-S3	cervix:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
39	CTCF	chr10:49732250-49732731	K562	blood:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
40	CTCF	chr10:49732460-49732610	HepG2	liver:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
41	CTCF	chr10:49732420-49732570	AG09319	gingival:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
42	CTCF	chr10:49732420-49732570	NHDF-neo	bronchial:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
43	CTCF	chr10:49731900-49732050	GM12870	blood:	n/a	n/a
44	CTCF	chr10:49732394-49732603	GM10248	blood:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
45	CTCF	chr10:49732421-49732572	LNCaP	prostate:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
46	CTCF	chr10:49732460-49732610	WERI-Rb-1	eye:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
47	CTCF	chr10:49732420-49732570	GM06990	blood:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
48	CTCF	chr10:49731300-49731450	SK-N-SH_RA	brain:	n/a	n/a
49	CTCF	chr10:49732400-49732550	RPTEC	kidney:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
50	CTCF	chr10:49732400-49732603	GM12878	blood:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:49732003-49732053	HCF	heart:	n/a
2	chr10:49732003-49732053	HCF	heart:	n/a
3	chr10:49731375-49731425	PFSK-1	brain:	n/a
4	chr10:49732003-49732053	NHDF-neo	bronchial:	n/a
5	chr10:49731375-49731425	HCT-116	colon:	n/a
6	chr10:49731375-49731425	HAEpiC	amniotic membrane:	n/a
7	chr10:49733339-49733389	T-47D	breast:	n/a
8	chr10:49733339-49733389	HMEC	breast:	n/a
9	chr10:49732003-49732053	HRE	kidney:	n/a
10	chr10:49731375-49731425	K562	blood:	n/a
11	chr10:49733339-49733389	HRPEpiC	eye:	n/a
12	chr10:49733339-49733389	HRE	kidney:	n/a
13	chr10:49732419-49732469	ECC-1	luminal epithelium:	n/a
14	chr10:49732003-49732053	HRCEpiC	kidney:	n/a
15	chr10:49732419-49732469	BE2_C	brain:	n/a
16	chr10:49731965-49732015	K562	blood:	n/a
17	chr10:49731563-49731613	HRCEpiC	kidney:	n/a
18	chr10:49732003-49732053	AG04450	lung:	fetal
19	chr10:49732003-49732053	AG09309	skin:	n/a
20	chr10:49732419-49732469	NHDF-neo	bronchial:	n/a
21	chr10:49733339-49733389	HPAEpiC	pulmonary alveolar:	n/a
22	chr10:49733339-49733389	AG10803	skin:	n/a
23	chr10:49731563-49731613	AG10803	skin:	n/a
24	chr10:49732419-49732469	HCF	heart:	n/a
25	chr10:49731375-49731425	NHBE	bronchial:	n/a
26	chr10:49732315-49732365	ProgFib	skin:	n/a
27	chr10:49732637-49732687	AG10803	skin:	n/a
28	chr10:49731678-49731728	SAEC	small airway:	n/a
29	chr10:49733339-49733389	MCF10A-Er-Src	breast:	n/a
30	chr10:49731375-49731425	HEK293	kidney:	embryo
31	chr10:49732315-49732365	HEEpiC	esophagus:	n/a
32	chr10:49732315-49732365	NT2-D1	testis:	n/a
33	chr10:49732637-49732687	GM12892	blood:	n/a
34	chr10:49732315-49732365	HL-60	blood:	n/a
35	chr10:49731563-49731613	AG04450	lung:	fetal
36	chr10:49731375-49731425	LNCaP	prostate:	n/a
37	chr10:49732637-49732687	HepG2	liver:	n/a
38	chr10:49731678-49731728	GM12878	blood:	n/a
39	chr10:49731563-49731613	SK-N-SH_RA	brain:	n/a
40	chr10:49731678-49731728	AG09309	skin:	n/a
41	chr10:49732637-49732687	SKMC	muscle:	n/a
42	chr10:49732419-49732469	H1-hESC	embryonic stem cell:	embryo
43	chr10:49731965-49732015	T-47D	breast:	n/a
44	chr10:49732637-49732687	Hepatocyte	liver:	n/a
45	chr10:49731965-49732015	H1-hESC	embryonic stem cell:	embryo
46	chr10:49731375-49731425	SK-N-SH_RA	brain:	n/a
47	chr10:49733339-49733389	GM06990	blood:	n/a
48	chr10:49731678-49731728	Hepatocyte	liver:	n/a
49	chr10:49731965-49732015	AG04449	skin:	fetal
50	chr10:49731375-49731425	MCF-7	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:49729429..49732074-chr10:49751131..49754040,2	K562	blood:
2	chr10:49514209..49515853-chr10:49729935..49731994,2	K562	blood:
3	chr10:49514209..49516197-chr10:49729789..49731994,3	K562	blood:
4	chr10:49731838..49732358-chr16:2014319..2015199,3	HCT-116	colon:
5	chr10:49677603..49679164-chr10:49733692..49735615,2	K562	blood:
6	chr10:49732304..49732912-chr4:153699693..153700213,2	MCF-7	breast:
7	chr10:49684170..49687660-chr10:49728231..49732129,4	K562	blood:
8	chr10:49731096..49734201-chr10:49864172..49866367,3	K562	blood:
9	chr10:49730645..49732196-chr10:49747881..49750168,2	K562	blood:
10	chr10:49732429..49733101-chr10:49863990..49864919,5	K562	blood:
11	chr10:49639013..49641362-chr10:49732442..49734428,2	K562	blood:
12	chr10:49732450..49736073-chr10:49745484..49747337,3	K562	blood:
13	chr10:49733272..49735017-chr10:49739777..49742233,3	K562	blood:

Variant related genes	Relation type
ARHGAP22	TF binding region
ARHGAP22	CpG island
ENSG00000255198	chromatin interactions
ENSG00000140988	chromatin interactions
ENSG00000128805	chromatin interactions
ENSG00000107643	chromatin interactions

Extended variants
information (count: 81 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113086693	chr10:49731178-49731179	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs547804275	chr10:49731182-49731183	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs565987363	chr10:49731224-49731225	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs186721418	chr10:49731262-49731263	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs551598002	chr10:49731308-49731309	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs569804299	chr10:49731341-49731342	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs536850505	chr10:49731345-49731346	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs555200213	chr10:49731346-49731347	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs115620608	chr10:49731364-49731365	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs534645080	chr10:49731427-49731428	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs552910027	chr10:49731450-49731451	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs577603959	chr10:49731454-49731455	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs545056382	chr10:49731473-49731474	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs556804478	chr10:49731483-49731484	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs576665974	chr10:49731486-49731487	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs111659336	chr10:49731571-49731572	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs112876253	chr10:49731572-49731573	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs60407321	chr10:49731578-49731579	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs565642845	chr10:49731635-49731636	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs562309180	chr10:49731652-49731653	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs529610297	chr10:49731686-49731687	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs541390930	chr10:49731736-49731737	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs559663705	chr10:49731764-49731765	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs533192697	chr10:49731797-49731798	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs551805409	chr10:49731798-49731799	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs7088885	chr10:49731825-49731826	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs369493702	chr10:49731827-49731828	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs553184409	chr10:49731850-49731851	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs372991717	chr10:49731883-49731884	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs548762693	chr10:49731995-49731996	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs567150950	chr10:49731999-49732000	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs7089439	chr10:49732141-49732142	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs4575220	chr10:49732268-49732269	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs370311646	chr10:49732383-49732384	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs571197299	chr10:49732435-49732436	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs111924540	chr10:49732476-49732477	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs367812004	chr10:49732505-49732506	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs371787782	chr10:49732507-49732508	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs140809698	chr10:49732512-49732513	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs138028246	chr10:49732541-49732542	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs111983909	chr10:49732569-49732570	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs575402117	chr10:49732590-49732591	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs542792367	chr10:49732641-49732642	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs555975777	chr10:49732650-49732651	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs576304904	chr10:49732680-49732681	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs545267267	chr10:49732700-49732701	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs143142999	chr10:49732710-49732711	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs541681932	chr10:49732755-49732756	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs12779225	chr10:49732839-49732840	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs78048574	chr10:49732840-49732841	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:353 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49698000-49731200	Weak transcription	Aorta	Aorta
2	chr10:49721400-49732000	Weak transcription	HMEC	breast
3	chr10:49729600-49731200	Bivalent Enhancer	Fetal Stomach	stomach
4	chr10:49729600-49731200	Enhancers	HSMM	muscle
5	chr10:49729600-49731200	Enhancers	HSMMtube	muscle
6	chr10:49729800-49731200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr10:49729800-49731800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr10:49730000-49731200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr10:49730000-49731200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr10:49730000-49731200	Bivalent Enhancer	Fetal Muscle Leg	muscle
11	chr10:49730000-49731800	Enhancers	Brain Angular Gyrus	brain
12	chr10:49730000-49731800	Enhancers	Brain Substantia Nigra	brain
13	chr10:49730200-49731200	Enhancers	Brain Hippocampus Middle	brain
14	chr10:49730200-49731200	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr10:49730200-49731200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr10:49730200-49731200	Enhancers	Ovary	ovary
17	chr10:49730200-49731600	Flanking Active TSS	K562	blood
18	chr10:49730400-49731200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
19	chr10:49730400-49731200	Enhancers	Right Ventricle	heart
20	chr10:49730400-49731600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr10:49730400-49731800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr10:49730600-49731200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr10:49730600-49731200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr10:49730600-49731800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr10:49730600-49732000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
26	chr10:49730600-49732200	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr10:49730800-49731200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr10:49730800-49731200	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr10:49730800-49731200	Enhancers	Fetal Kidney	kidney
30	chr10:49730800-49731400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr10:49730800-49731400	Bivalent Enhancer	Fetal Heart	heart
32	chr10:49730800-49731400	Flanking Active TSS	Fetal Lung	lung
33	chr10:49730800-49732800	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr10:49730800-49732800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr10:49731000-49731200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr10:49731000-49731200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr10:49731000-49731200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr10:49731000-49731200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr10:49731000-49731200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
40	chr10:49731000-49731200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr10:49731000-49731200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr10:49731000-49731200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr10:49731000-49731200	Bivalent Enhancer	Adipose Nuclei	Adipose
44	chr10:49731000-49731200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
45	chr10:49731000-49731200	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
46	chr10:49731000-49731200	Bivalent/Poised TSS	Fetal Brain Male	brain
47	chr10:49731000-49731200	Bivalent Enhancer	Fetal Intestine Large	intestine
48	chr10:49731000-49731200	Bivalent Enhancer	Fetal Thymus	thymus
49	chr10:49731000-49731200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
50	chr10:49731000-49731200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle

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