Variant report

Variant	esv3338336
Chromosome Location	chr20:23341577-23344125
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	chr20:23343285-23343287	HepG2	liver:	n/a	n/a
2	ARID3A	chr20:23344008-23344009	HepG2	liver:	n/a	n/a
3	ARID3A	chr20:23341723-23342899	HepG2	liver:	n/a	n/a
4	ATF1	chr20:23342319-23342842	K562	blood:	n/a	n/a
5	ATF2	chr20:23342338-23342884	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr20:23342196-23342855	GM12878	blood:	n/a	n/a
7	ATF2	chr20:23342354-23342873	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr20:23342161-23342806	GM12878	blood:	n/a	n/a
9	ATF3	chr20:23342242-23342841	A549	lung:	n/a	chr20:23342531-23342551 chr20:23342530-23342539 chr20:23342507-23342516
10	ATF3	chr20:23342273-23342870	H1-hESC	embryonic stem cell:	n/a	chr20:23342531-23342551 chr20:23342530-23342539 chr20:23342507-23342516
11	ATF3	chr20:23342100-23342845	HCT-116	colon:	n/a	chr20:23342531-23342551 chr20:23342530-23342539 chr20:23342229-23342238 chr20:23342507-23342516
12	ATF3	chr20:23342120-23343095	HepG2	liver:	n/a	chr20:23342531-23342551 chr20:23342530-23342539 chr20:23342229-23342238 chr20:23342507-23342516 chr20:23342935-23342944
13	ATF3	chr20:23342407-23342748	GM12878	blood:	n/a	chr20:23342531-23342551 chr20:23342530-23342539 chr20:23342507-23342516
14	ATF3	chr20:23342386-23342845	K562	blood:	n/a	chr20:23342531-23342551 chr20:23342530-23342539 chr20:23342507-23342516
15	ATF3	chr20:23342252-23342822	GM12878	blood:	n/a	chr20:23342531-23342551 chr20:23342530-23342539 chr20:23342507-23342516
16	ATF3	chr20:23342243-23342808	H1-hESC	embryonic stem cell:	n/a	chr20:23342531-23342551 chr20:23342530-23342539 chr20:23342507-23342516
17	ATF3	chr20:23342301-23342751	K562	blood:	n/a	chr20:23342531-23342551 chr20:23342530-23342539 chr20:23342507-23342516
18	ATF3	chr20:23342188-23342959	HCT-116	colon:	n/a	chr20:23342531-23342551 chr20:23342530-23342539 chr20:23342229-23342238 chr20:23342507-23342516 chr20:23342935-23342944
19	ATF3	chr20:23342216-23342871	HepG2	liver:	n/a	chr20:23342531-23342551 chr20:23342530-23342539 chr20:23342229-23342238 chr20:23342507-23342516
20	ATF3	chr20:23342321-23342788	K562	blood:	n/a	chr20:23342531-23342551 chr20:23342530-23342539 chr20:23342507-23342516
21	ATF3	chr20:23342200-23342854	A549	lung:	n/a	chr20:23342531-23342551 chr20:23342530-23342539 chr20:23342229-23342238 chr20:23342507-23342516
22	BACH1	chr20:23342010-23342020	K562	blood:	n/a	n/a
23	BACH1	chr20:23341800-23342631	H1-hESC	embryonic stem cell:	n/a	n/a
24	BACH1	chr20:23343048-23343314	H1-hESC	embryonic stem cell:	n/a	n/a
25	BATF	chr20:23342348-23342770	GM12878	blood:	n/a	n/a
26	BCL11A	chr20:23342227-23342573	GM12878	blood:	n/a	n/a
27	BCL11A	chr20:23342309-23342537	GM12878	blood:	n/a	n/a
28	BCL3	chr20:23342151-23342782	A549	lung:	n/a	chr20:23342681-23342690 chr20:23342181-23342194
29	BCLAF1	chr20:23342084-23342701	GM12878	blood:	n/a	chr20:23342681-23342690 chr20:23342181-23342194
30	BHLHE40	chr20:23343907-23344022	K562	blood:	n/a	n/a
31	BHLHE40	chr20:23342310-23342721	A549	lung:	n/a	chr20:23342506-23342515 chr20:23342508-23342517 chr20:23342501-23342522 chr20:23342507-23342516 chr20:23342505-23342518 chr20:23342507-23342516 chr20:23342406-23342422
32	BHLHE40	chr20:23342245-23342787	HepG2	liver:	n/a	chr20:23342506-23342515 chr20:23342508-23342517 chr20:23342501-23342522 chr20:23342507-23342516 chr20:23342505-23342518 chr20:23342507-23342516 chr20:23342406-23342422
33	BHLHE40	chr20:23341784-23342880	K562	blood:	n/a	chr20:23342506-23342515 chr20:23342508-23342517 chr20:23342501-23342522 chr20:23342507-23342516 chr20:23342850-23342866 chr20:23342505-23342518 chr20:23342842-23342858 chr20:23342162-23342178 chr20:23342507-23342516 chr20:23342406-23342422 chr20:23342847-23342863
34	BHLHE40	chr20:23341771-23342995	HepG2	liver:	n/a	chr20:23342506-23342515 chr20:23342508-23342517 chr20:23342501-23342522 chr20:23342507-23342516 chr20:23342850-23342866 chr20:23342505-23342518 chr20:23342909-23342925 chr20:23342842-23342858 chr20:23342162-23342178 chr20:23342507-23342516 chr20:23342406-23342422 chr20:23342847-23342863
35	BHLHE40	chr20:23341920-23342887	GM12878	blood:	n/a	chr20:23342506-23342515 chr20:23342508-23342517 chr20:23342501-23342522 chr20:23342507-23342516 chr20:23342850-23342866 chr20:23342505-23342518 chr20:23342842-23342858 chr20:23342162-23342178 chr20:23342507-23342516 chr20:23342406-23342422 chr20:23342847-23342863
36	BRCA1	chr20:23342401-23342802	H1-hESC	embryonic stem cell:	n/a	n/a
37	BRCA1	chr20:23341835-23342815	Hela-S3	cervix:	n/a	n/a
38	BRCA1	chr20:23342321-23342696	GM12878	blood:	n/a	n/a
39	BRCA1	chr20:23343191-23343358	H1-hESC	embryonic stem cell:	n/a	n/a
40	BRCA1	chr20:23342272-23342880	HepG2	liver:	n/a	n/a
41	CBX3	chr20:23342278-23342810	K562	blood:	n/a	n/a
42	CCNT2	chr20:23342017-23343486	K562	blood:	n/a	chr20:23342747-23342756 chr20:23342530-23342539
43	CEBPB	chr20:23342183-23342872	MCF-7	breast:	n/a	chr20:23342621-23342632
44	CEBPB	chr20:23341794-23342858	Hela-S3	cervix:	n/a	chr20:23342621-23342632
45	CEBPB	chr20:23342285-23342930	MCF-7	breast:	n/a	chr20:23342621-23342632
46	CEBPB	chr20:23343301-23343647	IMR90	lung:	n/a	chr20:23343474-23343485
47	CEBPB	chr20:23341802-23342145	K562	blood:	n/a	n/a
48	CEBPB	chr20:23342267-23342863	K562	blood:	n/a	chr20:23342621-23342632
49	CEBPB	chr20:23342312-23342786	HepG2	liver:	n/a	chr20:23342621-23342632
50	CEBPB	chr20:23341754-23342225	MCF-7	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:23343673-23343723	AoSMC	blood vessel:	n/a
2	chr20:23341721-23341771	HRCEpiC	kidney:	n/a
3	chr20:23343405-23343455	SAEC	small airway:	n/a
4	chr20:23342882-23342932	ECC-1	luminal epithelium:	n/a
5	chr20:23343673-23343723	HUVEC	blood vessel:	n/a
6	chr20:23342156-23342206	HRE	kidney:	n/a
7	chr20:23342882-23342932	AG09319	gingival:	n/a
8	chr20:23344079-23344129	NHBE	bronchial:	n/a
9	chr20:23344079-23344129	PrEC	prostate:	n/a
10	chr20:23342156-23342206	BJ	skin:	n/a
11	chr20:23342882-23342932	HAEpiC	amniotic membrane:	n/a
12	chr20:23341721-23341771	A549	lung:	n/a
13	chr20:23343405-23343455	HCF	heart:	n/a
14	chr20:23344079-23344129	ovcar-3	ovarian:	n/a
15	chr20:23342882-23342932	HCPEpiC	choroid plexus:	n/a
16	chr20:23343405-23343455	HUVEC	blood vessel:	n/a
17	chr20:23341721-23341771	PANC-1	pancreas:	n/a
18	chr20:23341721-23341771	BJ	skin:	n/a
19	chr20:23342156-23342206	NB4	blood:	n/a
20	chr20:23343405-23343455	U87	brain:	n/a
21	chr20:23342882-23342932	SKMC	muscle:	n/a
22	chr20:23342882-23342932	LNCaP	prostate:	n/a
23	chr20:23343405-23343455	HEK293	kidney:	embryo
24	chr20:23342156-23342206	ovcar-3	ovarian:	n/a
25	chr20:23341721-23341771	Hela-S3	cervix:	n/a
26	chr20:23343673-23343723	HRCEpiC	kidney:	n/a
27	chr20:23343103-23343153	HPAEpiC	pulmonary alveolar:	n/a
28	chr20:23342156-23342206	HCF	heart:	n/a
29	chr20:23341721-23341771	Hepatocyte	liver:	n/a
30	chr20:23343405-23343455	GM12891	blood:	n/a
31	chr20:23344079-23344129	HMEC	breast:	n/a
32	chr20:23341721-23341771	HIPEpiC	eye:	n/a
33	chr20:23343103-23343153	AG09309	skin:	n/a
34	chr20:23343405-23343455	A549	lung:	n/a
35	chr20:23342156-23342206	HNPCEpiC	eye:	n/a
36	chr20:23342156-23342206	K562	blood:	n/a
37	chr20:23342156-23342206	ProgFib	skin:	n/a
38	chr20:23343405-23343455	HNPCEpiC	eye:	n/a
39	chr20:23341721-23341771	GM12891	blood:	n/a
40	chr20:23342156-23342206	HPAEpiC	pulmonary alveolar:	n/a
41	chr20:23344079-23344129	MCF-7	breast:	n/a
42	chr20:23341721-23341771	AG04449	skin:	fetal
43	chr20:23341721-23341771	GM06990	blood:	n/a
44	chr20:23343673-23343723	CMK	blood:	n/a
45	chr20:23341721-23341771	HCT-116	colon:	n/a
46	chr20:23342156-23342206	PrEC	prostate:	n/a
47	chr20:23342156-23342206	Hela-S3	cervix:	n/a
48	chr20:23344079-23344129	NH-A	brain:	n/a
49	chr20:23343405-23343455	GM12878	blood:	n/a
50	chr20:23342882-23342932	SK-N-SH	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:23342090..23342675-chr20:42218497..42219055,2	Hela-S3	cervix:
2	chr20:23342068..23342615-chr6:16129171..16129844,2	HCT-116	colon:
3	chr19:49303116..49303675-chr20:23341504..23342477,2	Hela-S3	cervix:
4	chr20:23340954..23342681-chr20:23403293..23405458,3	MCF-7	breast:
5	chr20:23340884..23343229-chr20:23616953..23618725,2	K562	blood:
6	chr14:20922188..20924523-chr20:23341669..23343744,2	MCF-7	breast:
7	chr20:23339592..23341756-chr20:23608896..23611631,2	MCF-7	breast:
8	chr20:23342009..23344759-chr20:23616093..23619702,3	MCF-7	breast:
9	chr20:23318136..23319028-chr20:23341404..23342333,4	MCF-7	breast:
10	chr15:71407056..71408775-chr20:23342043..23343755,2	MCF-7	breast:
11	chr20:23341938..23342938-chr7:44613359..44613870,2	HCT-116	colon:
12	chr20:23339311..23341771-chr20:23390617..23393220,2	MCF-7	breast:
13	chr20:23112532..23115241-chr20:23342774..23344532,2	K562	blood:
14	chr1:206808253..206808855-chr20:23342165..23342721,2	NB4	blood:
15	chr20:23318446..23319028-chr20:23341404..23342333,2	MCF-7	breast:
16	chr12:112856133..112856816-chr20:23342324..23343158,2	NB4	blood:
17	chr17:56735124..56736858-chr20:23339891..23342718,2	MCF-7	breast:
18	chr20:23339750..23342379-chr20:23399207..23403196,4	MCF-7	breast:
19	chr20:23337918..23344174-chr20:23400107..23404916,9	MCF-7	breast:
20	chr20:23338809..23345308-chr20:23399768..23403114,12	K562	blood:
21	chr20:23340976..23344072-chr20:23400128..23403114,5	K562	blood:
22	chr20:23342007..23342541-chr6:30457292..30457800,2	NB4	blood:
23	chr20:23342672..23344892-chr20:23400555..23402881,3	MCF-7	breast:
24	chr20:23029581..23032412-chr20:23340332..23342331,2	MCF-7	breast:
25	chr11:61735662..61736427-chr20:23341928..23342453,2	Hela-S3	cervix:
26	chr20:23343192..23343938-chr20:23587080..23587607,2	MCF-7	breast:
27	chr20:23341106..23341648-chr20:46264595..46265211,2	MCF-7	breast:
28	chr12:7052555..7053156-chr20:23342059..23342617,2	NB4	blood:
29	chr2:38978307..38979883-chr20:23342389..23345213,2	MCF-7	breast:

Variant related genes	Relation type
GZF1	TF binding region
ENSG00000232645	TF binding region
GZF1	CpG island
ENSG00000232645	CpG island
ENSG00000202077	chromatin interactions
ENSG00000007944	chromatin interactions
ENSG00000152147	chromatin interactions
ENSG00000178726	chromatin interactions
ENSG00000101439	chromatin interactions
ENSG00000179295	chromatin interactions
ENSG00000089009	chromatin interactions
ENSG00000225362	chromatin interactions
ENSG00000136271	chromatin interactions
ENSG00000092094	chromatin interactions
ENSG00000115875	chromatin interactions
ENSG00000125814	chromatin interactions
ENSG00000238923	chromatin interactions
ENSG00000100823	chromatin interactions
ENSG00000233746	chromatin interactions
ENSG00000111678	chromatin interactions

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	rs539057462	chr20:23341581-23341582	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs11699688	chr20:23341606-23341607	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs191296439	chr20:23341624-23341625	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs570236559	chr20:23341654-23341655	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs539134582	chr20:23341731-23341732	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs535760592	chr20:23341769-23341770	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs555512059	chr20:23341835-23341836	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs572315417	chr20:23341846-23341847	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs534927537	chr20:23341851-23341852	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs1936011	chr20:23341912-23341913	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs7274708	chr20:23342018-23342019	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs183100336	chr20:23342024-23342025	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs543439526	chr20:23342041-23342042	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs563720287	chr20:23342094-23342095	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
15	rs1936012	chr20:23342100-23342101	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
16	rs542146313	chr20:23342133-23342134	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
17	rs561822785	chr20:23342162-23342163	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
18	rs527471228	chr20:23342177-23342178	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
19	rs147786323	chr20:23342178-23342179	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
20	rs564003327	chr20:23342182-23342183	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
21	rs553890563	chr20:23342210-23342211	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
22	rs6132604	chr20:23342226-23342227	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs569332070	chr20:23342235-23342236	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
24	rs111628917	chr20:23342238-23342239	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
25	rs2405231	chr20:23342239-23342240	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs549256971	chr20:23342243-23342244	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
27	rs566080175	chr20:23342251-23342252	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
28	rs551243960	chr20:23342257-23342258	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
29	rs563182158	chr20:23342268-23342269	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
30	rs534868252	chr20:23342277-23342278	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
31	rs567385790	chr20:23342286-23342287	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
32	rs186001577	chr20:23342292-23342293	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
33	rs190918653	chr20:23342301-23342302	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
34	rs535844714	chr20:23342318-23342319	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
35	rs530502214	chr20:23342334-23342335	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
36	rs557029264	chr20:23342358-23342359	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
37	rs6048759	chr20:23342361-23342362	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
38	rs574089573	chr20:23342430-23342431	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
39	rs543082373	chr20:23342433-23342434	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
40	rs116672318	chr20:23342442-23342443	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
41	rs140197115	chr20:23342451-23342452	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
42	rs114447020	chr20:23342458-23342459	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
43	rs743024	chr20:23342476-23342477	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs532860303	chr20:23342495-23342496	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
45	rs570237668	chr20:23342500-23342501	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
46	rs75377165	chr20:23342539-23342540	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	mRNA abundance
47	rs58567704	chr20:23342543-23342544	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
48	rs548598354	chr20:23342581-23342582	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
49	rs187942178	chr20:23342598-23342599	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
50	rs35461738	chr20:23342602-23342603	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Breast cancer	16608533	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17133270	CNVD
Thrombophilia	17576883	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Hepatocellular carcinoma	22174799	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
small cell lung cancer	17426248	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:544 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23338800-23341800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr20:23338800-23341800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr20:23338800-23341800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr20:23338800-23341800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr20:23338800-23341800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr20:23338800-23342000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr20:23338800-23342000	Weak transcription	Gastric	stomach
8	chr20:23339200-23341600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr20:23339200-23341600	Weak transcription	HSMMtube	muscle
10	chr20:23339200-23341800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr20:23339200-23341800	Weak transcription	Esophagus	oesophagus
12	chr20:23339200-23341800	Weak transcription	Lung	lung
13	chr20:23339200-23341800	Weak transcription	Ovary	ovary
14	chr20:23339200-23342000	Weak transcription	Aorta	Aorta
15	chr20:23339200-23342200	Weak transcription	Spleen	Spleen
16	chr20:23339400-23341600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr20:23339400-23341600	Enhancers	Fetal Intestine Large	intestine
18	chr20:23339400-23341600	Weak transcription	NH-A	brain
19	chr20:23339400-23341800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr20:23339400-23341800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr20:23339400-23341800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr20:23339400-23341800	Enhancers	Fetal Intestine Small	intestine
23	chr20:23339400-23341800	Weak transcription	Right Atrium	heart
24	chr20:23339400-23341800	Weak transcription	Right Ventricle	heart
25	chr20:23339600-23341600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr20:23339600-23341600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr20:23339600-23341600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr20:23339600-23341600	Weak transcription	HSMM	muscle
29	chr20:23339600-23341800	Enhancers	Stomach Mucosa	stomach
30	chr20:23339800-23341600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr20:23339800-23341600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr20:23339800-23341600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr20:23339800-23341600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr20:23339800-23341600	Enhancers	Duodenum Mucosa	Duodenum
35	chr20:23339800-23341600	Weak transcription	Fetal Brain Female	brain
36	chr20:23339800-23341600	Weak transcription	Thymus	Thymus
37	chr20:23339800-23341600	Weak transcription	NHEK	skin
38	chr20:23339800-23341800	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr20:23339800-23341800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr20:23339800-23341800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr20:23339800-23341800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr20:23339800-23341800	Weak transcription	Brain Germinal Matrix	brain
43	chr20:23339800-23341800	Enhancers	Fetal Heart	heart
44	chr20:23339800-23341800	Weak transcription	Placenta	Placenta
45	chr20:23339800-23341800	Weak transcription	Fetal Stomach	stomach
46	chr20:23339800-23341800	Weak transcription	Small Intestine	intestine
47	chr20:23340000-23341600	Weak transcription	Brain Anterior Caudate	brain
48	chr20:23340000-23341800	Weak transcription	Colonic Mucosa	Colon
49	chr20:23340200-23341800	Weak transcription	Fetal Muscle Trunk	muscle
50	chr20:23340200-23341800	Weak transcription	Left Ventricle	heart

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