Variant report

Variant	nsv482647
Chromosome Location	chr20:25308912-25481982
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3128)
CpG islands
(count:2014)
Chromatin interactive
region (count:135)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:3128 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr20:25387822-25388496	HepG2	liver:	n/a	chr20:25388309-25388317
2	ARID3A	chr20:25358787-25359630	HepG2	liver:	n/a	n/a
3	ARID3A	chr20:25388096-25388261	K562	blood:	n/a	n/a
4	ARID3A	chr20:25317209-25317492	HepG2	liver:	n/a	n/a
5	ARID3A	chr20:25371552-25371951	HepG2	liver:	n/a	n/a
6	ARID3A	chr20:25379639-25380138	HepG2	liver:	n/a	n/a
7	ARID3A	chr20:25379777-25380076	K562	blood:	n/a	n/a
8	ARID3A	chr20:25319106-25319562	HepG2	liver:	n/a	n/a
9	ATF1	chr20:25397252-25397513	K562	blood:	n/a	n/a
10	ATF1	chr20:25450740-25450940	K562	blood:	n/a	n/a
11	ATF2	chr20:25387954-25388507	GM12878	blood:	n/a	n/a
12	ATF2	chr20:25371534-25371990	GM12878	blood:	n/a	n/a
13	ATF2	chr20:25388112-25388527	GM12878	blood:	n/a	n/a
14	ATF3	chr20:25388032-25388664	A549	lung:	n/a	chr20:25388194-25388203
15	ATF3	chr20:25387974-25388532	A549	lung:	n/a	chr20:25388194-25388203
16	BACH1	chr20:25370649-25370864	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr20:25371722-25371849	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr20:25470160-25470452	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr20:25337035-25337212	H1-hESC	embryonic stem cell:	n/a	n/a
20	BATF	chr20:25387943-25388438	GM12878	blood:	n/a	chr20:25388072-25388081
21	BATF	chr20:25399506-25399665	GM12878	blood:	n/a	chr20:25399587-25399598
22	BCL3	chr20:25387945-25388694	A549	lung:	n/a	chr20:25388326-25388335
23	BCL3	chr20:25353656-25353912	GM12878	blood:	n/a	n/a
24	BCL3	chr20:25388706-25389225	GM12878	blood:	n/a	n/a
25	BCL3	chr20:25387957-25388925	A549	lung:	n/a	chr20:25388326-25388335
26	BCL3	chr20:25353604-25353968	GM12878	blood:	n/a	n/a
27	BCL3	chr20:25371548-25372060	A549	lung:	n/a	chr20:25371619-25371632
28	BCLAF1	chr20:25371157-25371962	GM12878	blood:	n/a	chr20:25371487-25371496 chr20:25371619-25371632
29	BCLAF1	chr20:25388018-25388559	GM12878	blood:	n/a	chr20:25388326-25388335
30	BHLHE40	chr20:25379784-25380071	GM12878	blood:	n/a	n/a
31	BHLHE40	chr20:25370868-25371011	GM12878	blood:	n/a	n/a
32	BHLHE40	chr20:25399551-25399751	GM12878	blood:	n/a	n/a
33	BHLHE40	chr20:25331336-25331599	K562	blood:	n/a	n/a
34	BHLHE40	chr20:25371542-25371911	K562	blood:	n/a	n/a
35	BHLHE40	chr20:25388127-25388443	K562	blood:	n/a	n/a
36	BHLHE40	chr20:25371233-25371293	K562	blood:	n/a	n/a
37	BHLHE40	chr20:25317235-25317373	K562	blood:	n/a	n/a
38	BHLHE40	chr20:25371263-25371994	GM12878	blood:	n/a	n/a
39	BHLHE40	chr20:25472243-25472376	K562	blood:	n/a	n/a
40	BHLHE40	chr20:25359032-25359467	HepG2	liver:	n/a	n/a
41	BHLHE40	chr20:25450555-25450968	K562	blood:	n/a	n/a
42	BRCA1	chr20:25371613-25371893	HepG2	liver:	n/a	n/a
43	BRCA1	chr20:25450882-25450972	HepG2	liver:	n/a	n/a
44	BRCA1	chr20:25320385-25320632	HepG2	liver:	n/a	chr20:25320448-25320455
45	BRCA1	chr20:25388152-25388535	HepG2	liver:	n/a	n/a
46	BRCA1	chr20:25317268-25317409	HepG2	liver:	n/a	n/a
47	BRCA1	chr20:25481050-25481069	HepG2	liver:	n/a	n/a
48	BRCA1	chr20:25371739-25372395	H1-hESC	embryonic stem cell:	n/a	n/a
49	BRCA1	chr20:25388053-25388627	Hela-S3	cervix:	n/a	n/a
50	BRCA1	chr20:25359176-25359564	HepG2	liver:	n/a	n/a

(count:2014 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:25371439-25371489	AG04450	lung:	fetal
2	chr20:25371439-25371489	AG04450	lung:	fetal
3	chr20:25387977-25388027	HRE	kidney:	n/a
4	chr20:25388353-25388403	GM12891	blood:	n/a
5	chr20:25368906-25368956	NHDF-neo	bronchial:	n/a
6	chr20:25388278-25388328	HL-60	blood:	n/a
7	chr20:25386216-25386266	SK-N-MC	brain:	n/a
8	chr20:25388089-25388139	HEEpiC	esophagus:	n/a
9	chr20:25479848-25479898	SAEC	small airway:	n/a
10	chr20:25371700-25371750	HCT-116	colon:	n/a
11	chr20:25388641-25388691	Hepatocyte	liver:	n/a
12	chr20:25371719-25371769	GM19239	blood:	n/a
13	chr20:25371822-25371872	Hepatocyte	liver:	n/a
14	chr20:25371822-25371872	Caco-2	colon:	n/a
15	chr20:25381464-25381514	HCF	heart:	n/a
16	chr20:25371667-25371717	PrEC	prostate:	n/a
17	chr20:25386216-25386266	HepG2	liver:	n/a
18	chr20:25479848-25479898	NB4	blood:	n/a
19	chr20:25371719-25371769	Caco-2	colon:	n/a
20	chr20:25371719-25371769	HCF	heart:	n/a
21	chr20:25368123-25368173	IMR90	lung:	fetal
22	chr20:25388278-25388328	RPTEC	kidney:	n/a
23	chr20:25371822-25371872	U87	brain:	n/a
24	chr20:25388353-25388403	GM12878	blood:	n/a
25	chr20:25388287-25388337	HL-60	blood:	n/a
26	chr20:25381464-25381514	Hela-S3	cervix:	n/a
27	chr20:25388369-25388419	RPTEC	kidney:	n/a
28	chr20:25381464-25381514	NHDF-neo	bronchial:	n/a
29	chr20:25371408-25371458	HRCEpiC	kidney:	n/a
30	chr20:25368906-25368956	GM12892	blood:	n/a
31	chr20:25388278-25388328	MCF10A-Er-Src	breast:	n/a
32	chr20:25382007-25382057	RPTEC	kidney:	n/a
33	chr20:25371439-25371489	AG09319	gingival:	n/a
34	chr20:25392112-25392162	Hepatocyte	liver:	n/a
35	chr20:25388049-25388099	SKMC	muscle:	n/a
36	chr20:25386216-25386266	HMEC	breast:	n/a
37	chr20:25388278-25388328	NHDF-neo	bronchial:	n/a
38	chr20:25370336-25370386	HepG2	liver:	n/a
39	chr20:25371667-25371717	HAEpiC	amniotic membrane:	n/a
40	chr20:25371408-25371458	HAEpiC	amniotic membrane:	n/a
41	chr20:25374524-25374574	SK-N-MC	brain:	n/a
42	chr20:25371665-25371715	HRPEpiC	eye:	n/a
43	chr20:25371852-25371902	HCT-116	colon:	n/a
44	chr20:25448861-25448911	AG04450	lung:	fetal
45	chr20:25388287-25388337	SAEC	small airway:	n/a
46	chr20:25433878-25433928	ECC-1	luminal epithelium:	n/a
47	chr20:25387977-25388027	RPTEC	kidney:	n/a
48	chr20:25370897-25370947	HepG2	liver:	n/a
49	chr20:25388353-25388403	Hepatocyte	liver:	n/a
50	chr20:25371719-25371769	HMEC	breast:	n/a

(count:135 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr20:25477682..25478236-chr20:25488620..25489236,2	MCF-7	breast:
2	chr20:25334830..25338247-chr20:25338696..25341660,3	MCF-7	breast:
3	chr20:25318544..25319155-chr20:25379499..25380008,2	MCF-7	breast:
4	chr20:25370156..25372734-chr20:25387934..25390472,3	MCF-7	breast:
5	chr20:25387920..25388819-chr7:6048429..6049127,2	NB4	blood:
6	chr20:25401571..25403410-chr20:25403637..25405682,2	K562	blood:
7	chr20:25360007..25361800-chr20:25361801..25365335,3	K562	blood:
8	chr20:25326249..25327757-chr20:25332487..25334812,2	MCF-7	breast:
9	chr20:25354700..25357442-chr20:25369809..25371480,2	MCF-7	breast:
10	chr20:25307435..25309771-chr20:25337246..25338964,2	MCF-7	breast:
11	chr20:25318544..25319155-chr20:25379499..25380008,2	MCF-7	breast:
12	chr20:25369196..25373772-chr20:25386901..25390344,6	MCF-7	breast:
13	chr20:25356181..25358893-chr20:25361208..25363554,2	MCF-7	breast:
14	chr20:25371881..25374643-chr20:25387255..25389810,3	K562	blood:
15	chr20:25450464..25451286-chr20:25554579..25555594,4	MCF-7	breast:
16	chr20:25371188..25372153-chr7:107220709..107221225,2	NB4	blood:
17	chr20:25477099..25478848-chr20:25676437..25678716,2	MCF-7	breast:
18	chr20:25385575..25388779-chr20:25393238..25395970,3	K562	blood:
19	chr20:25324909..25327111-chr20:25375106..25376972,2	MCF-7	breast:
20	chr20:25360614..25362965-chr20:25368758..25370561,4	K562	blood:
21	chr20:24973500..24975861-chr20:25384259..25387078,2	MCF-7	breast:
22	chr20:25370156..25372734-chr20:25387934..25390472,3	MCF-7	breast:
23	chr20:25343419..25348845-chr20:25348965..25353125,6	MCF-7	breast:
24	chr20:25445981..25448619-chr20:25473407..25476003,2	K562	blood:
25	chr20:25324909..25327111-chr20:25375106..25376972,2	MCF-7	breast:
26	chr17:59433764..59435297-chr20:25448424..25451207,2	MCF-7	breast:
27	chr20:25316806..25320274-chr20:25323207..25325619,3	MCF-7	breast:
28	chr20:25388243..25389775-chr20:25480689..25482219,2	MCF-7	breast:
29	chr20:25307435..25309771-chr20:25337246..25338964,2	MCF-7	breast:
30	chr20:25377062..25378773-chr20:25386652..25389539,2	K562	blood:
31	chr20:25480268..25483016-chr20:25564719..25567825,3	MCF-7	breast:
32	chr20:25476655..25479810-chr20:25563858..25567519,3	MCF-7	breast:
33	chr20:25326249..25327757-chr20:25332487..25334812,2	MCF-7	breast:
34	chr20:25464605..25465563-chr20:25554811..25555726,5	MCF-7	breast:
35	chr20:25464881..25466399-chr20:25468189..25469773,2	MCF-7	breast:
36	chr20:24976100..24978484-chr20:25364511..25366126,2	MCF-7	breast:
37	chr20:25474550..25476302-chr20:25479455..25481151,2	K562	blood:
38	chr20:25343880..25345898-chr20:25371718..25374578,2	MCF-7	breast:
39	chr20:25370702..25372613-chr20:25374796..25376547,2	MCF-7	breast:
40	chr20:25360614..25362965-chr20:25368758..25370561,4	K562	blood:
41	chr20:25359494..25361888-chr20:25364164..25366430,2	MCF-7	breast:
42	chr20:25347656..25349270-chr20:25370740..25373063,2	MCF-7	breast:
43	chr20:25273820..25275552-chr20:25407200..25409099,2	K562	blood:
44	chr20:25360007..25361800-chr20:25361801..25365335,3	K562	blood:
45	chr20:25332164..25334022-chr20:25369881..25372493,2	MCF-7	breast:
46	chr20:25388650..25390177-chr20:25402470..25404637,3	MCF-7	breast:
47	chr20:25274830..25275740-chr20:25378372..25379283,2	MCF-7	breast:
48	chr20:25328148..25330867-chr20:25336121..25338656,2	MCF-7	breast:
49	chr20:25277532..25280083-chr20:25374458..25376489,2	K562	blood:
50	chr20:25450369..25451319-chr20:25554838..25555706,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NINL-1	chr20:25348911-25349402	NONHSAT079153

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
PPIAP2	TF binding region
ABHD12	TF binding region
NINL	TF binding region
GINS1	TF binding region
PPIAP2	CpG island
ABHD12	CpG island
NINL	CpG island
GINS1	CpG island
ENSG00000197586	chromatin interactions
ENSG00000075790	chromatin interactions
ENSG00000150456	chromatin interactions
ENSG00000104047	chromatin interactions
ENSG00000261235	chromatin interactions
ENSG00000101003	chromatin interactions
ENSG00000101474	chromatin interactions
ENSG00000089775	chromatin interactions
ENSG00000130684	chromatin interactions
ENSG00000162409	chromatin interactions
ENSG00000100994	chromatin interactions
ENSG00000162407	chromatin interactions
ENSG00000166262	chromatin interactions
ENSG00000122512	chromatin interactions
ENSG00000100997	chromatin interactions
ENSG00000170191	chromatin interactions
ENSG00000213742	chromatin interactions
ENSG00000227379	chromatin interactions
ENSG00000101004	chromatin interactions
ENSG00000233325	chromatin interactions
ENSG00000106305	chromatin interactions

Extended variants
information (count: 7278 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:7278 , 50 per page) page: 1 2 3 4 5 6 7 ... 146

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2482923	chr20:25308981-25308982	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs548994645	chr20:25308993-25308994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73345068	chr20:25309020-25309021	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs528383342	chr20:25309041-25309042	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141468367	chr20:25309083-25309084	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186092332	chr20:25309084-25309085	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73345069	chr20:25309123-25309124	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs569793580	chr20:25309134-25309135	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs145294925	chr20:25309135-25309136	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191542501	chr20:25309151-25309152	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573060944	chr20:25309167-25309168	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs368392243	chr20:25309178-25309179	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs11697524	chr20:25309193-25309194	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs577587660	chr20:25309260-25309261	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs578134181	chr20:25309306-25309307	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs182928915	chr20:25309342-25309343	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs544007044	chr20:25309404-25309405	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs6138562	chr20:25309484-25309485	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs557136802	chr20:25309515-25309516	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs573769814	chr20:25309517-25309518	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs188144146	chr20:25309518-25309519	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs145215843	chr20:25309555-25309556	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs528060556	chr20:25309557-25309558	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs149140544	chr20:25309560-25309561	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs56932655	chr20:25309565-25309566	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs376798997	chr20:25309571-25309572	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs530646465	chr20:25309575-25309576	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs550358417	chr20:25309579-25309580	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs35189134	chr20:25309604-25309605	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs58351126	chr20:25309607-25309608	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs140577225	chr20:25309641-25309642	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs549413154	chr20:25309645-25309646	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs6138563	chr20:25309693-25309694	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs563753011	chr20:25309714-25309715	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs35614409	chr20:25309839-25309840	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs371793992	chr20:25309868-25309869	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs192323991	chr20:25309900-25309901	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs537680219	chr20:25309937-25309938	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs557597493	chr20:25309965-25309966	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs574236403	chr20:25309966-25309967	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs542765557	chr20:25309968-25309969	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs145829570	chr20:25309986-25309987	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs73907312	chr20:25309989-25309990	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs544967268	chr20:25309990-25309991	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs540485727	chr20:25310043-25310044	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs565080306	chr20:25310047-25310048	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs534116130	chr20:25310066-25310067	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs368443673	chr20:25310075-25310076	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs78197810	chr20:25310086-25310087	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs544063718	chr20:25310104-25310105	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Breast cancer	22522925	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:4516 , 50 per page) page: 1 2 3 4 5 6 7 ... 91

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25292000-25310000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr20:25292000-25325200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr20:25292000-25327400	Weak transcription	Aorta	Aorta
4	chr20:25292200-25309600	Weak transcription	Psoas Muscle	Psoas
5	chr20:25292200-25316600	Weak transcription	NHEK	skin
6	chr20:25292400-25311200	Weak transcription	K562	blood
7	chr20:25292400-25325200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr20:25292600-25309000	Weak transcription	Colon Smooth Muscle	Colon
9	chr20:25292600-25351600	Weak transcription	NHDF-Ad	bronchial
10	chr20:25296600-25310200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr20:25296800-25316600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr20:25297800-25317800	Weak transcription	Fetal Brain Female	brain
13	chr20:25301600-25309000	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr20:25302200-25317200	Weak transcription	Esophagus	oesophagus
15	chr20:25302600-25309400	Weak transcription	Stomach Mucosa	stomach
16	chr20:25302800-25309000	Weak transcription	Brain Angular Gyrus	brain
17	chr20:25302800-25309600	Weak transcription	Ovary	ovary
18	chr20:25302800-25324400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr20:25303400-25310200	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr20:25304000-25309800	Weak transcription	Brain Germinal Matrix	brain
21	chr20:25304000-25310000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr20:25304000-25324800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr20:25304200-25310000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr20:25304200-25310200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr20:25304400-25309000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr20:25304400-25309000	Weak transcription	Left Ventricle	heart
27	chr20:25304400-25309600	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr20:25304400-25309600	Weak transcription	Spleen	Spleen
29	chr20:25304400-25309800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr20:25304400-25316800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr20:25304400-25317200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr20:25304400-25319000	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr20:25304400-25324200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr20:25304400-25327000	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr20:25304600-25309000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr20:25304600-25311400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr20:25304600-25317000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr20:25304600-25317200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr20:25304800-25309600	Weak transcription	Fetal Intestine Small	intestine
40	chr20:25304800-25317800	Weak transcription	Gastric	stomach
41	chr20:25304800-25318000	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr20:25304800-25322800	Weak transcription	Stomach Smooth Muscle	stomach
43	chr20:25305000-25309000	Weak transcription	Colonic Mucosa	Colon
44	chr20:25305000-25317200	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr20:25305000-25327000	Weak transcription	Primary T cells from cord blood	blood
46	chr20:25305000-25331800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr20:25305400-25309400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr20:25305400-25309600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr20:25305400-25310000	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr20:25305400-25319000	Weak transcription	Duodenum Mucosa	Duodenum

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