Variant report

Variant	esv3377051
Chromosome Location	chr20:23617777-23620325
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:372)
CpG islands
(count:431)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:372 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr20:23618404-23618721	HepG2	liver:	n/a	n/a
2	ATF3	chr20:23617868-23618151	K562	blood:	n/a	chr20:23618034-23618054
3	BACH1	chr20:23618423-23618424	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr20:23617950-23617995	K562	blood:	n/a	n/a
5	BHLHE40	chr20:23617931-23618730	HepG2	liver:	n/a	n/a
6	BHLHE40	chr20:23617968-23618683	K562	blood:	n/a	n/a
7	BRCA1	chr20:23618527-23618641	HepG2	liver:	n/a	n/a
8	BRCA1	chr20:23617846-23618137	Hela-S3	cervix:	n/a	n/a
9	BRCA1	chr20:23618186-23618317	HepG2	liver:	n/a	n/a
10	CBX3	chr20:23617792-23618151	K562	blood:	n/a	n/a
11	CBX3	chr20:23618501-23618797	K562	blood:	n/a	n/a
12	CCNT2	chr20:23617735-23618726	K562	blood:	n/a	chr20:23618218-23618227
13	CEBPB	chr20:23617999-23618136	Hela-S3	cervix:	n/a	n/a
14	CEBPD	chr20:23618028-23618896	HepG2	liver:	n/a	n/a
15	CEBPD	chr20:23618337-23618765	HepG2	liver:	n/a	n/a
16	CHD2	chr20:23618309-23618706	K562	blood:	n/a	n/a
17	CHD2	chr20:23620270-23620273	HepG2	liver:	n/a	n/a
18	CHD2	chr20:23618037-23618801	HepG2	liver:	n/a	n/a
19	CHD2	chr20:23618110-23618783	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD2	chr20:23617948-23618829	Hela-S3	cervix:	n/a	n/a
21	CHD2	chr20:23618273-23618295	GM12878	blood:	n/a	n/a
22	CREB1	chr20:23617837-23618352	H1-hESC	embryonic stem cell:	n/a	n/a
23	CREB1	chr20:23617881-23618717	A549	lung:	n/a	n/a
24	CREB1	chr20:23617875-23618301	K562	blood:	n/a	n/a
25	CREB1	chr20:23617839-23618866	HepG2	liver:	n/a	n/a
26	CTBP2	chr20:23617903-23618777	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr20:23617940-23618090	GM12874	blood:	n/a	n/a
28	CTCF	chr20:23618100-23618250	AG04449	skin:	n/a	chr20:23618236-23618249
29	CTCF	chr20:23617972-23618011	Pancreas_OC	pancreas:	n/a	n/a
30	CTCF	chr20:23617920-23618070	HMEC	breast:	n/a	n/a
31	CTCF	chr20:23618340-23618490	HUVEC	blood vessel:	n/a	n/a
32	CTCF	chr20:23617860-23618010	HCPEpiC	choroid plexus:	n/a	n/a
33	CTCF	chr20:23617860-23618010	BJ	skin:	n/a	n/a
34	CTCF	chr20:23617860-23618010	HBMEC	blood vessel:	n/a	n/a
35	CTCF	chr20:23617880-23618030	AG04449	skin:	n/a	n/a
36	CTCF	chr20:23618000-23618150	Caco-2	colon:	n/a	n/a
37	CTCF	chr20:23618100-23618250	GM12873	blood:	n/a	chr20:23618236-23618249
38	CTCF	chr20:23618380-23618530	AG04449	skin:	n/a	n/a
39	CTCF	chr20:23617840-23617990	HRE	kidney:	n/a	n/a
40	CTCF	chr20:23617900-23618050	HRE	kidney:	n/a	n/a
41	CTCF	chr20:23617960-23618110	SK-N-SH_RA	brain:	n/a	n/a
42	E2F4	chr20:23617927-23618226	MCF10A-Er-Src	breast:	n/a	chr20:23617977-23617987 chr20:23618157-23618167
43	E2F4	chr20:23618550-23618769	MCF10A-Er-Src	breast:	n/a	n/a
44	E2F6	chr20:23618198-23618706	K562	blood:	n/a	n/a
45	E2F6	chr20:23618170-23618620	A549	lung:	n/a	n/a
46	E2F6	chr20:23617881-23618656	A549	lung:	n/a	chr20:23617977-23617987 chr20:23618157-23618167
47	E2F6	chr20:23617918-23618119	K562	blood:	n/a	chr20:23617977-23617987
48	EBF1	chr20:23618529-23618705	GM12878	blood:	n/a	n/a
49	EGR1	chr20:23618430-23618875	H1-hESC	embryonic stem cell:	n/a	n/a
50	EGR1	chr20:23617767-23618169	K562	blood:	n/a	chr20:23617977-23617990

(count:431 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:23618348-23618398	ProgFib	skin:	n/a
2	chr20:23618348-23618398	HCPEpiC	choroid plexus:	n/a
3	chr20:23618348-23618398	NB4	blood:	n/a
4	chr20:23618512-23618562	A549	lung:	n/a
5	chr20:23618348-23618398	ProgFib	skin:	n/a
6	chr20:23618348-23618398	HCPEpiC	choroid plexus:	n/a
7	chr20:23618348-23618398	NB4	blood:	n/a
8	chr20:23618512-23618562	A549	lung:	n/a
9	chr20:23618348-23618398	AG04449	skin:	fetal
10	chr20:23618590-23618640	GM06990	blood:	n/a
11	chr20:23619525-23619575	HUVEC	blood vessel:	n/a
12	chr20:23618590-23618640	T-47D	breast:	n/a
13	chr20:23618481-23618531	HMEC	breast:	n/a
14	chr20:23619525-23619575	H1-hESC	embryonic stem cell:	embryo
15	chr20:23618590-23618640	Hepatocyte	liver:	n/a
16	chr20:23618055-23618105	PANC-1	pancreas:	n/a
17	chr20:23619778-23619828	NHBE	bronchial:	n/a
18	chr20:23618512-23618562	GM19239	blood:	n/a
19	chr20:23618481-23618531	HAEpiC	amniotic membrane:	n/a
20	chr20:23619525-23619575	AG04450	lung:	fetal
21	chr20:23618590-23618640	ECC-1	luminal epithelium:	n/a
22	chr20:23618055-23618105	HCF	heart:	n/a
23	chr20:23618512-23618562	ovcar-3	ovarian:	n/a
24	chr20:23619778-23619828	NHDF-neo	bronchial:	n/a
25	chr20:23619778-23619828	PrEC	prostate:	n/a
26	chr20:23618590-23618640	NT2-D1	testis:	n/a
27	chr20:23619778-23619828	HMEC	breast:	n/a
28	chr20:23619525-23619575	NT2-D1	testis:	n/a
29	chr20:23619778-23619828	BJ	skin:	n/a
30	chr20:23618481-23618531	BJ	skin:	n/a
31	chr20:23619525-23619575	HCPEpiC	choroid plexus:	n/a
32	chr20:23618512-23618562	HAEpiC	amniotic membrane:	n/a
33	chr20:23619525-23619575	ovcar-3	ovarian:	n/a
34	chr20:23619525-23619575	BJ	skin:	n/a
35	chr20:23619525-23619575	SAEC	small airway:	n/a
36	chr20:23618512-23618562	HepG2	liver:	n/a
37	chr20:23618590-23618640	Jurkat	blood:	n/a
38	chr20:23618481-23618531	HUVEC	blood vessel:	n/a
39	chr20:23618055-23618105	SK-N-SH	brain:	n/a
40	chr20:23619525-23619575	CMK	blood:	n/a
41	chr20:23619525-23619575	Caco-2	colon:	n/a
42	chr20:23618055-23618105	NH-A	brain:	n/a
43	chr20:23618348-23618398	ECC-1	luminal epithelium:	n/a
44	chr20:23618512-23618562	HUVEC	blood vessel:	n/a
45	chr20:23618348-23618398	Caco-2	colon:	n/a
46	chr20:23618481-23618531	H1-hESC	embryonic stem cell:	embryo
47	chr20:23618055-23618105	GM06990	blood:	n/a
48	chr20:23618590-23618640	AG10803	skin:	n/a
49	chr20:23618590-23618640	PANC-1	pancreas:	n/a
50	chr20:23618512-23618562	ProgFib	skin:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:23608610..23615599-chr20:23616056..23619619,19	MCF-7	breast:
2	chr15:93425841..93426770-chr20:23617945..23618689,2	Hela-S3	cervix:
3	chr20:23617167..23619413-chr20:62495612..62498216,2	MCF-7	breast:
4	chr20:23400310..23402508-chr20:23615661..23618868,3	MCF-7	breast:
5	chr20:23616967..23620200-chr20:23620235..23623406,7	MCF-7	breast:
6	chr20:23615491..23618366-chr20:23625789..23627708,2	MCF-7	breast:
7	chr20:23342009..23344759-chr20:23616093..23619702,3	MCF-7	breast:
8	chr20:23618414..23619171-chr5:138940732..138941254,2	HCT-116	colon:
9	chr20:23618106..23618624-chr3:150320619..150321356,2	NB4	blood:
10	chr20:23400787..23402892-chr20:23617355..23620191,2	MCF-7	breast:
11	chr20:23340884..23343229-chr20:23616953..23618725,2	K562	blood:
12	chr20:23615698..23619686-chr20:23620113..23624171,4	MCF-7	breast:
13	chr20:23619975..23621824-chr20:23630879..23635181,3	MCF-7	breast:

No data

Variant related genes	Relation type
CST3	TF binding region
ENSG00000270001	TF binding region
CST3	CpG island
ENSG00000270001	CpG island
ENSG00000270001	chromatin interactions
ENSG00000101150	chromatin interactions
ENSG00000131508	chromatin interactions
ENSG00000101439	chromatin interactions
ENSG00000125812	chromatin interactions
ENSG00000173575	chromatin interactions
ENSG00000272888	chromatin interactions
ENSG00000120742	chromatin interactions
ENSG00000125814	chromatin interactions
ENSG00000198843	chromatin interactions

Extended variants
information (count: 121 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532658986	chr20:23617833-23617834	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs552853528	chr20:23617845-23617846	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs149454480	chr20:23617868-23617869	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs143903577	chr20:23617898-23617899	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs567313048	chr20:23618001-23618002	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs564232075	chr20:23618006-23618007	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs192685024	chr20:23618050-23618051	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs76720836	chr20:23618054-23618055	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs534298049	chr20:23618098-23618099	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs547441765	chr20:23618113-23618114	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs112668645	chr20:23618127-23618128	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs570846862	chr20:23618165-23618166	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs372736445	chr20:23618166-23618167	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs538536112	chr20:23618180-23618181	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs368940136	chr20:23618188-23618189	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs575085375	chr20:23618200-23618201	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs537694094	chr20:23618204-23618205	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs554343653	chr20:23618224-23618225	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs368971982	chr20:23618246-23618247	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs11542353	chr20:23618264-23618265	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs574152075	chr20:23618265-23618266	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs373743268	chr20:23618277-23618278	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs377587451	chr20:23618281-23618282	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs111341893	chr20:23618283-23618284	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs202145575	chr20:23618286-23618287	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs11542360	chr20:23618288-23618289	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs11542364	chr20:23618289-23618290	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs373177867	chr20:23618300-23618301	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs576809508	chr20:23618301-23618302	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs546173157	chr20:23618305-23618306	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs563244065	chr20:23618316-23618317	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs377450166	chr20:23618321-23618322	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs201089355	chr20:23618362-23618363	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs373213120	chr20:23618370-23618371	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs11542365	chr20:23618383-23618384	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs548759955	chr20:23618384-23618385	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs11542354	chr20:23618387-23618388	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs6138024	chr20:23618395-23618396	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs11542363	chr20:23618401-23618402	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs375692362	chr20:23618402-23618403	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs200245337	chr20:23618412-23618413	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs1064039	chr20:23618427-23618428	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs368080734	chr20:23618428-23618429	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs11542356	chr20:23618431-23618432	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs570741281	chr20:23618432-23618433	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs539861839	chr20:23618434-23618435	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs113550984	chr20:23618444-23618445	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs11542359	chr20:23618451-23618452	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
49	rs1055084	chr20:23618488-23618489	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs11542357	chr20:23618493-23618494	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Breast cancer	21364760	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	chr20:23610400-23618200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr20:23615000-23618000	Transcr. at gene 5' and 3'	Cortex derived primary cultured neurospheres	brain
3	chr20:23615800-23617800	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr20:23615800-23618000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr20:23616000-23617800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
6	chr20:23616400-23617800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr20:23616400-23618600	Active TSS	Brain Hippocampus Middle	brain
8	chr20:23616600-23617800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr20:23616600-23617800	Flanking Active TSS	Fetal Thymus	thymus
10	chr20:23616600-23617800	Flanking Active TSS	Stomach Smooth Muscle	stomach
11	chr20:23616600-23617800	Flanking Active TSS	HSMM	muscle
12	chr20:23616800-23617800	Flanking Active TSS	Liver	Liver
13	chr20:23616800-23617800	Flanking Active TSS	A549	lung
14	chr20:23616800-23618000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
15	chr20:23616800-23618600	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr20:23617000-23617800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr20:23617000-23617800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr20:23617000-23617800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr20:23617000-23617800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr20:23617000-23617800	Flanking Active TSS	Brain Anterior Caudate	brain
21	chr20:23617000-23617800	Flanking Active TSS	Rectal Smooth Muscle	rectum
22	chr20:23617000-23617800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr20:23617000-23617800	Flanking Active TSS	Stomach Mucosa	stomach
24	chr20:23617000-23617800	Flanking Active TSS	HSMMtube	muscle
25	chr20:23617000-23617800	Flanking Active TSS	Osteobl	bone
26	chr20:23617000-23618000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr20:23617000-23618000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
28	chr20:23617000-23618000	Flanking Active TSS	GM12878-XiMat	blood
29	chr20:23617000-23618200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr20:23617000-23618400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr20:23617000-23618600	Active TSS	Brain Substantia Nigra	brain
32	chr20:23617200-23617800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr20:23617200-23617800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr20:23617200-23617800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
35	chr20:23617200-23617800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr20:23617200-23617800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr20:23617200-23617800	Active TSS	Thymus	Thymus
38	chr20:23617200-23617800	Flanking Bivalent TSS/Enh	HepG2	liver
39	chr20:23617200-23617800	Flanking Active TSS	HUVEC	blood vessel
40	chr20:23617200-23617800	Flanking Active TSS	NH-A	brain
41	chr20:23617200-23618000	Flanking Active TSS	Fetal Brain Male	brain
42	chr20:23617200-23618000	Flanking Active TSS	Fetal Muscle Leg	muscle
43	chr20:23617200-23618800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr20:23617200-23618800	Active TSS	Brain Cingulate Gyrus	brain
45	chr20:23617400-23617800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
46	chr20:23617400-23617800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
47	chr20:23617400-23617800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
48	chr20:23617400-23617800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
49	chr20:23617400-23617800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr20:23617400-23617800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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