Variant report

Variant	nsv1060591
Chromosome Location	chr20:25388781-25628750
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3897)
CpG islands
(count:2566)
Chromatin interactive
region (count:167)
LncRNA
region (count:21)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:3897 , 50 per page) page: 1 2 3 4 5 6 7 ... 78

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr20:25566452-25566585	HepG2	liver:	n/a	n/a
2	ARID3A	chr20:25589872-25589910	K562	blood:	n/a	n/a
3	ARID3A	chr20:25559627-25559973	HepG2	liver:	n/a	n/a
4	ARID3A	chr20:25555145-25555336	HepG2	liver:	n/a	n/a
5	ARID3A	chr20:25604243-25605494	HepG2	liver:	n/a	n/a
6	ARID3A	chr20:25557897-25557902	HepG2	liver:	n/a	n/a
7	ARID3A	chr20:25583644-25583908	HepG2	liver:	n/a	n/a
8	ARID3A	chr20:25565954-25566222	HepG2	liver:	n/a	n/a
9	ARID3A	chr20:25488240-25489133	HepG2	liver:	n/a	n/a
10	ARID3A	chr20:25506350-25507074	HepG2	liver:	n/a	n/a
11	ARID3A	chr20:25565236-25565725	HepG2	liver:	n/a	n/a
12	ARID3A	chr20:25519655-25520011	HepG2	liver:	n/a	n/a
13	ARID3A	chr20:25530308-25530796	HepG2	liver:	n/a	n/a
14	ATF1	chr20:25450740-25450940	K562	blood:	n/a	n/a
15	ATF1	chr20:25604506-25604949	K562	blood:	n/a	n/a
16	ATF1	chr20:25587145-25587281	K562	blood:	n/a	n/a
17	ATF1	chr20:25520966-25521214	K562	blood:	n/a	n/a
18	ATF1	chr20:25524173-25524617	K562	blood:	n/a	n/a
19	ATF1	chr20:25397252-25397513	K562	blood:	n/a	n/a
20	ATF2	chr20:25604546-25604979	H1-hESC	embryonic stem cell:	n/a	n/a
21	ATF2	chr20:25520859-25521226	H1-hESC	embryonic stem cell:	n/a	n/a
22	ATF2	chr20:25604086-25605395	GM12878	blood:	n/a	n/a
23	ATF2	chr20:25614892-25615389	GM12878	blood:	n/a	n/a
24	ATF2	chr20:25614922-25615298	GM12878	blood:	n/a	n/a
25	ATF3	chr20:25488628-25489026	A549	lung:	n/a	n/a
26	ATF3	chr20:25523783-25524037	K562	blood:	n/a	n/a
27	ATF3	chr20:25604521-25604862	K562	blood:	n/a	n/a
28	ATF3	chr20:25604408-25605384	A549	lung:	n/a	chr20:25604441-25604450
29	ATF3	chr20:25604171-25604989	HepG2	liver:	n/a	chr20:25604441-25604450
30	BACH1	chr20:25603875-25604378	K562	blood:	n/a	n/a
31	BACH1	chr20:25520911-25521321	H1-hESC	embryonic stem cell:	n/a	n/a
32	BACH1	chr20:25565874-25566218	H1-hESC	embryonic stem cell:	n/a	n/a
33	BACH1	chr20:25603685-25604906	H1-hESC	embryonic stem cell:	n/a	n/a
34	BACH1	chr20:25470160-25470452	H1-hESC	embryonic stem cell:	n/a	n/a
35	BACH1	chr20:25605186-25605431	H1-hESC	embryonic stem cell:	n/a	n/a
36	BATF	chr20:25583645-25583879	GM12878	blood:	n/a	n/a
37	BATF	chr20:25614868-25615500	GM12878	blood:	n/a	n/a
38	BATF	chr20:25604653-25605071	GM12878	blood:	n/a	n/a
39	BATF	chr20:25399506-25399665	GM12878	blood:	n/a	chr20:25399587-25399598
40	BATF	chr20:25614906-25615298	GM12878	blood:	n/a	n/a
41	BATF	chr20:25499248-25499445	GM12878	blood:	n/a	n/a
42	BCL11A	chr20:25615002-25615290	GM12878	blood:	n/a	chr20:25615065-25615074
43	BCL3	chr20:25590100-25590330	GM12878	blood:	n/a	n/a
44	BCL3	chr20:25603598-25605530	A549	lung:	n/a	chr20:25604587-25604600 chr20:25604588-25604601 chr20:25604350-25604363 chr20:25603858-25603867
45	BCL3	chr20:25388706-25389225	GM12878	blood:	n/a	n/a
46	BCL3	chr20:25604336-25605427	A549	lung:	n/a	chr20:25604587-25604600 chr20:25604588-25604601 chr20:25604350-25604363
47	BCL3	chr20:25590098-25590301	GM12878	blood:	n/a	n/a
48	BCL3	chr20:25565131-25566237	A549	lung:	n/a	chr20:25565815-25565824 chr20:25565704-25565717 chr20:25565700-25565713 chr20:25565668-25565681 chr20:25565884-25565893 chr20:25565855-25565868 chr20:25565861-25565869
49	BCL3	chr20:25387957-25388925	A549	lung:	n/a	chr20:25388326-25388335
50	BCLAF1	chr20:25603785-25605150	GM12878	blood:	n/a	chr20:25604587-25604600 chr20:25604588-25604601 chr20:25604350-25604363 chr20:25603858-25603867

(count:2566 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:25604757-25604807	NHDF-neo	bronchial:	n/a
2	chr20:25583082-25583132	HUVEC	blood vessel:	n/a
3	chr20:25602213-25602263	BJ	skin:	n/a
4	chr20:25581368-25581418	ovcar-3	ovarian:	n/a
5	chr20:25604757-25604807	NHDF-neo	bronchial:	n/a
6	chr20:25583082-25583132	HUVEC	blood vessel:	n/a
7	chr20:25602213-25602263	BJ	skin:	n/a
8	chr20:25581368-25581418	ovcar-3	ovarian:	n/a
9	chr20:25605889-25605939	GM12891	blood:	n/a
10	chr20:25448861-25448911	HRE	kidney:	n/a
11	chr20:25565460-25565510	HCPEpiC	choroid plexus:	n/a
12	chr20:25433878-25433928	GM19239	blood:	n/a
13	chr20:25448861-25448911	RPTEC	kidney:	n/a
14	chr20:25604643-25604693	GM06990	blood:	n/a
15	chr20:25580630-25580680	PFSK-1	brain:	n/a
16	chr20:25566470-25566520	HEEpiC	esophagus:	n/a
17	chr20:25580630-25580680	MCF-7	breast:	n/a
18	chr20:25565460-25565510	HEEpiC	esophagus:	n/a
19	chr20:25565879-25565929	HRE	kidney:	n/a
20	chr20:25604805-25604855	Caco-2	colon:	n/a
21	chr20:25604700-25604750	GM19239	blood:	n/a
22	chr20:25479848-25479898	AG09319	gingival:	n/a
23	chr20:25479848-25479898	BE2_C	brain:	n/a
24	chr20:25392112-25392162	NB4	blood:	n/a
25	chr20:25604805-25604855	ovcar-3	ovarian:	n/a
26	chr20:25479848-25479898	GM12891	blood:	n/a
27	chr20:25450839-25450889	SAEC	small airway:	n/a
28	chr20:25604700-25604750	HIPEpiC	eye:	n/a
29	chr20:25566382-25566432	RPTEC	kidney:	n/a
30	chr20:25563834-25563884	HepG2	liver:	n/a
31	chr20:25604737-25604787	HEK293	kidney:	embryo
32	chr20:25604737-25604787	HCPEpiC	choroid plexus:	n/a
33	chr20:25604715-25604765	HCPEpiC	choroid plexus:	n/a
34	chr20:25604757-25604807	HRPEpiC	eye:	n/a
35	chr20:25565460-25565510	HAEpiC	amniotic membrane:	n/a
36	chr20:25479848-25479898	HPAEpiC	pulmonary alveolar:	n/a
37	chr20:25604757-25604807	HAEpiC	amniotic membrane:	n/a
38	chr20:25604643-25604693	AG09319	gingival:	n/a
39	chr20:25605889-25605939	HepG2	liver:	n/a
40	chr20:25605095-25605145	HRE	kidney:	n/a
41	chr20:25479848-25479898	K562	blood:	n/a
42	chr20:25601255-25601305	ECC-1	luminal epithelium:	n/a
43	chr20:25388779-25388829	HCM	heart:	n/a
44	chr20:25595830-25595880	HRCEpiC	kidney:	n/a
45	chr20:25595830-25595880	NT2-D1	testis:	n/a
46	chr20:25605095-25605145	AG10803	skin:	n/a
47	chr20:25563834-25563884	AG04450	lung:	fetal
48	chr20:25604805-25604855	H1-hESC	embryonic stem cell:	embryo
49	chr20:25604643-25604693	HUVEC	blood vessel:	n/a
50	chr20:25604700-25604750	CMK	blood:	n/a

(count:167 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr20:25602965..25606226-chr20:25676160..25678613,3	K562	blood:
2	chr20:25552816..25556954-chr20:25564456..25567707,4	MCF-7	breast:
3	chr20:25499922..25502486-chr20:25510143..25513350,3	MCF-7	breast:
4	chr20:25564944..25567747-chr20:25571041..25572866,2	MCF-7	breast:
5	chr20:25604700..25606724-chr20:25650561..25652560,2	MCF-7	breast:
6	chr20:25503491..25506421-chr20:25552111..25554965,2	MCF-7	breast:
7	chr20:25491299..25493041-chr20:25501976..25504817,2	K562	blood:
8	chr20:25589271..25591160-chr20:25602645..25604605,2	K562	blood:
9	chr20:25590781..25592605-chr20:25602144..25606440,3	MCF-7	breast:
10	chr20:25471295..25474295-chr20:25476336..25479406,5	MCF-7	breast:
11	chr20:25387859..25390842-chr20:25397411..25399483,2	MCF-7	breast:
12	chr20:25535541..25538221-chr20:25603940..25606059,2	MCF-7	breast:
13	chr20:25555296..25557019-chr20:25561500..25564069,2	MCF-7	breast:
14	chr20:25450369..25451319-chr20:25554838..25555706,2	K562	blood:
15	chr20:25521309..25522938-chr20:25526944..25528978,2	MCF-7	breast:
16	chr20:25431598..25433481-chr20:25439717..25442541,2	MCF-7	breast:
17	chr20:25519449..25520233-chr20:25534260..25534819,2	MCF-7	breast:
18	chr20:25385575..25388779-chr20:25393238..25395970,3	K562	blood:
19	chr20:25566937..25569724-chr20:25600095..25602685,2	K562	blood:
20	chr20:25573384..25574225-chr20:53361184..53361762,2	MCF-7	breast:
21	chr20:25589103..25590623-chr3:128880296..128881849,2	K562	blood:
22	chr20:25450464..25451286-chr20:25554579..25555594,4	MCF-7	breast:
23	chr20:25524378..25525990-chr20:25604731..25606396,2	MCF-7	breast:
24	chr20:25228496..25230155-chr20:25552419..25555224,2	MCF-7	breast:
25	chr20:25464605..25465563-chr20:25554811..25555726,5	MCF-7	breast:
26	chr20:25464605..25465563-chr20:25554811..25555726,5	MCF-7	breast:
27	chr20:25527993..25531935-chr20:25532103..25536605,5	MCF-7	breast:
28	chr20:25602721..25604667-chr6:41038688..41041497,2	MCF-7	breast:
29	chr20:25518724..25523016-chr20:25601749..25604904,3	MCF-7	breast:
30	chr20:25475529..25477645-chr20:25603569..25606189,3	MCF-7	breast:
31	chr20:25550441..25553359-chr20:25602338..25605786,3	K562	blood:
32	chr20:25370156..25372734-chr20:25387934..25390472,3	MCF-7	breast:
33	chr20:25401571..25403410-chr20:25403637..25405682,2	K562	blood:
34	chr20:25480268..25483016-chr20:25564719..25567825,3	MCF-7	breast:
35	chr20:25274847..25275686-chr20:25555235..25555796,2	K562	blood:
36	chr20:25389767..25391883-chr20:25602900..25605790,2	K562	blood:
37	chr20:25476255..25479902-chr20:25487059..25491596,6	MCF-7	breast:
38	chr20:25450369..25451319-chr20:25554838..25555706,2	K562	blood:
39	chr20:25591083..25593178-chr20:25596594..25598770,2	MCF-7	breast:
40	chr20:25392116..25394910-chr20:25395209..25398004,3	K562	blood:
41	chr20:25590781..25592605-chr20:25602144..25606440,3	MCF-7	breast:
42	chr20:25487824..25490513-chr20:25503941..25506270,3	MCF-7	breast:
43	chr20:25491958..25494931-chr20:25496004..25498993,2	MCF-7	breast:
44	chr20:25476823..25479458-chr20:25499157..25501846,2	MCF-7	breast:
45	chr20:24972013..24974485-chr20:25388171..25390084,2	MCF-7	breast:
46	chr20:25487824..25490513-chr20:25503941..25506270,3	MCF-7	breast:
47	chr20:25474956..25477524-chr20:25604184..25606432,2	MCF-7	breast:
48	chr20:25589936..25592096-chr20:25592501..25595194,2	MCF-7	breast:
49	chr20:25475529..25477645-chr20:25603569..25606189,3	MCF-7	breast:
50	chr20:25528846..25530545-chr20:25675898..25678279,2	MCF-7	breast:

(count:21 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GINS1-1	chr20:25615365-25615463	ENSG00000213742.2
2	lnc-GINS1-1	chr20:25612794-25612924	ENSG00000213742.2
3	lnc-GINS1-1	chr20:25615365-25615463	ENSG00000213742.2
4	lnc-GINS1-1	chr20:25626167-25626284	ENSG00000213742.2
5	lnc-GINS1-1	chr20:25614685-25614806	ENSG00000213742.2
6	lnc-GINS1-1	chr20:25612846-25612924	ENSG00000213742.2
7	lnc-GINS1-1	chr20:25604695-25604771	ENSG00000213742.2
8	lnc-GINS1-1	chr20:25604793-25605082	ENSG00000213742.2
9	lnc-GINS1-4	chr20:25513663-25514148	NONHSAT079162
10	lnc-GINS1-1	chr20:25614685-25614806	ENSG00000213742.2
11	lnc-GINS1-1	chr20:25614685-25614806	ENSG00000213742.2
12	lnc-GINS1-1	chr20:25612794-25612924	ENSG00000213742.2
13	lnc-GINS1-1	chr20:25626167-25626284	ENSG00000213742.2
14	lnc-GINS1-1	chr20:25604869-25605062	ENSG00000213742.2
15	lnc-GINS1-1	chr20:25626167-25626284	ENSG00000213742.2
16	lnc-GINS1-1	chr20:25615365-25615463	ENSG00000213742.2
17	lnc-GINS1-1	chr20:25604681-25604771	ENSG00000213742.2
18	lnc-GINS1-1	chr20:25614685-25614806	ENSG00000213742.2
19	lnc-GINS1-1	chr20:25604695-25604771	ENSG00000213742.2
20	lnc-GINS1-1	chr20:25626167-25626284	ENSG00000213742.2
21	lnc-GINS1-1	chr20:25612794-25612924	ENSG00000213742.2

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	GINS1	hsa-miR-7-5p	chr20:25428910-25428929

Variant related genes	Relation type
ZNF337-AS1	TF binding region
NINL	TF binding region
GINS1	TF binding region
RNU6ATAC17P	TF binding region
NANP	TF binding region
ZNF337-AS1	CpG island
NINL	CpG island
GINS1	CpG island
RNU6ATAC17P	CpG island
NANP	CpG island
ENSG00000100994	chromatin interactions
ENSG00000124596	chromatin interactions
ENSG00000051108	chromatin interactions
ENSG00000126778	chromatin interactions
ENSG00000106305	chromatin interactions
ENSG00000166946	chromatin interactions
ENSG00000236542	chromatin interactions
ENSG00000001167	chromatin interactions
ENSG00000168283	chromatin interactions
ENSG00000100997	chromatin interactions
ENSG00000251883	chromatin interactions
ENSG00000261796	chromatin interactions
ENSG00000101003	chromatin interactions
ENSG00000170191	chromatin interactions
ENSG00000092148	chromatin interactions
ENSG00000240682	chromatin interactions
ENSG00000213742	chromatin interactions
ENSG00000242236	chromatin interactions
ENSG00000101004	chromatin interactions
ENSG00000130684	chromatin interactions
ENSG00000122512	chromatin interactions
ENSG00000101474	chromatin interactions
ENSG00000089775	chromatin interactions

Extended variants
information (count: 9748 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:9748 , 50 per page) page: 1 2 3 4 5 6 7 ... 195

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73331880	chr20:25388834-25388835	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145884400	chr20:25388846-25388847	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs376300371	chr20:25388851-25388852	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs563095626	chr20:25388875-25388876	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs529075710	chr20:25388898-25388899	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs148212253	chr20:25388903-25388904	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs565822595	chr20:25388907-25388908	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs181025735	chr20:25388911-25388912	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs11908061	chr20:25388951-25388952	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs533616609	chr20:25388970-25388971	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs141265834	chr20:25388972-25388973	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs571276514	chr20:25389002-25389003	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs537099741	chr20:25389029-25389030	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs557093861	chr20:25389045-25389046	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs567399517	chr20:25389046-25389047	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs535661390	chr20:25389105-25389106	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs555180565	chr20:25389115-25389116	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs553468540	chr20:25389116-25389117	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs371320385	chr20:25389118-25389119	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs185052793	chr20:25389152-25389153	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs572628799	chr20:25389179-25389180	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs375900678	chr20:25389216-25389217	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs370337053	chr20:25389221-25389222	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs369057560	chr20:25389229-25389230	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs150766783	chr20:25389314-25389315	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs115152387	chr20:25389330-25389331	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs577618021	chr20:25389390-25389391	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs543460512	chr20:25389444-25389445	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs563432889	chr20:25389468-25389469	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs10577654	chr20:25389568-25389569	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs138101208	chr20:25389586-25389587	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs542437704	chr20:25389602-25389603	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs189563746	chr20:25389675-25389676	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs528342481	chr20:25389684-25389685	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs551707405	chr20:25389691-25389692	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs571212097	chr20:25389712-25389713	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs530513728	chr20:25389716-25389717	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs374061141	chr20:25389752-25389753	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs6115172	chr20:25389756-25389757	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs6050593	chr20:25389813-25389814	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs536374310	chr20:25389818-25389819	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs142659831	chr20:25389847-25389848	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs370532943	chr20:25389873-25389874	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs73331881	chr20:25389917-25389918	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs184068284	chr20:25389924-25389925	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs146074001	chr20:25389934-25389935	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs375697513	chr20:25389994-25389995	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs577959772	chr20:25390008-25390009	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs543399216	chr20:25390051-25390052	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs557355698	chr20:25390071-25390072	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
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
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	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
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	16774939	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:6333 , 50 per page) page: 1 2 3 4 5 6 7 ... 127

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25387600-25389000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr20:25387600-25389200	Active TSS	GM12878-XiMat	blood
3	chr20:25387600-25389400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr20:25387800-25388800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr20:25387800-25388800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr20:25387800-25388800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr20:25387800-25388800	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr20:25387800-25388800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr20:25387800-25388800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
10	chr20:25387800-25388800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
11	chr20:25387800-25388800	Active TSS	Cortex derived primary cultured neurospheres	brain
12	chr20:25387800-25388800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr20:25387800-25388800	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr20:25387800-25388800	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr20:25387800-25388800	Active TSS	Fetal Brain Female	brain
16	chr20:25387800-25388800	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr20:25387800-25388800	Active TSS	Fetal Lung	lung
18	chr20:25387800-25388800	Active TSS	Fetal Stomach	stomach
19	chr20:25387800-25388800	Active TSS	Ovary	ovary
20	chr20:25387800-25388800	Active TSS	Psoas Muscle	Psoas
21	chr20:25387800-25388800	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr20:25387800-25388800	Active TSS	Stomach Mucosa	stomach
23	chr20:25387800-25388800	Active TSS	Thymus	Thymus
24	chr20:25387800-25388800	Active TSS	HMEC	breast
25	chr20:25387800-25388800	Active TSS	HUVEC	blood vessel
26	chr20:25387800-25388800	Active TSS	NHEK	skin
27	chr20:25387800-25389000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr20:25387800-25389000	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr20:25387800-25389000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr20:25387800-25389000	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr20:25387800-25389200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr20:25387800-25389200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr20:25387800-25389200	Active TSS	Rectal Smooth Muscle	rectum
34	chr20:25387800-25389200	Active TSS	HSMM	muscle
35	chr20:25387800-25389400	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr20:25387800-25389400	Active TSS	H1 Cell Line	embryonic stem cell
37	chr20:25387800-25389400	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr20:25387800-25389400	Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr20:25387800-25389400	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr20:25387800-25389400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr20:25387800-25389400	Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr20:25387800-25389400	Active TSS	K562	blood
43	chr20:25387800-25389400	Active TSS	NHDF-Ad	bronchial
44	chr20:25387800-25389600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr20:25387800-25389600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr20:25387800-25389600	Active TSS	Fetal Kidney	kidney
47	chr20:25387800-25389600	Active TSS	Hela-S3	cervix
48	chr20:25387800-25389800	Active TSS	H9 Cell Line	embryonic stem cell
49	chr20:25387800-25390000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr20:25388000-25388800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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