Variant report

Variant	nsv517172
Chromosome Location	chr20:52276452-52289243
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:218)
CpG islands
(count:245)
Chromatin interactive
region (count:79)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:218 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr20:52278368-52278617	HepG2	liver:	n/a	n/a
2	ARID3A	chr20:52277951-52277964	HepG2	liver:	n/a	n/a
3	BACH1	chr20:52276701-52276936	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL11A	chr20:52277483-52277834	GM12878	blood:	n/a	chr20:52277701-52277710
5	BCLAF1	chr20:52277451-52277857	GM12878	blood:	n/a	chr20:52277701-52277710
6	BHLHE40	chr20:52276816-52277358	GM12878	blood:	n/a	n/a
7	CEBPB	chr20:52270843-52278706	MCF-7	breast:	n/a	chr20:52274560-52274568 chr20:52277284-52277296 chr20:52272781-52272792 chr20:52273489-52273500 chr20:52273461-52273472 chr20:52273622-52273634 chr20:52273621-52273634 chr20:52272781-52272792 chr20:52277281-52277298 chr20:52273491-52273502 chr20:52273462-52273473 chr20:52273489-52273502 chr20:52271053-52271070
8	CEBPB	chr20:52276747-52277781	GM12878	blood:	n/a	chr20:52277284-52277296 chr20:52277281-52277298
9	CHD1	chr20:52276702-52277826	GM12878	blood:	n/a	n/a
10	CHD1	chr20:52276972-52277002	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD2	chr20:52276888-52277087	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD2	chr20:52276693-52277799	GM12878	blood:	n/a	n/a
13	CTCF	chr20:52277540-52277690	HepG2	liver:	n/a	n/a
14	CTCF	chr20:52277520-52277670	GM12878	blood:	n/a	n/a
15	CTCF	chr20:52277480-52277630	GM12874	blood:	n/a	n/a
16	CTCF	chr20:52277610-52277676	GM19238	blood:	n/a	n/a
17	CTCF	chr20:52277360-52277510	AG09319	gingival:	n/a	n/a
18	CTCF	chr20:52277560-52277710	GM12865	blood:	n/a	n/a
19	CTCF	chr20:52277640-52277790	GM12873	blood:	n/a	n/a
20	CTCF	chr20:52277632-52277706	GM12878	blood:	n/a	n/a
21	CTCF	chr20:52284600-52284750	GM12864	blood:	n/a	n/a
22	CTCF	chr20:52277560-52277710	GM12872	blood:	n/a	n/a
23	CTCF	chr20:52278200-52278350	MCF-7	breast:	n/a	n/a
24	CTCF	chr20:52277595-52277695	GM12892	blood:	n/a	n/a
25	CTCF	chr20:52288000-52288150	MCF-7	breast:	n/a	n/a
26	CTCF	chr20:52277500-52277755	HepG2	liver:	n/a	n/a
27	CTCF	chr20:52277520-52277670	MCF-7	breast:	n/a	n/a
28	CTCF	chr20:52277460-52277610	GM12870	blood:	n/a	n/a
29	CTCF	chr20:52277540-52277690	GM12864	blood:	n/a	n/a
30	CTCF	chr20:52277520-52277670	GM12875	blood:	n/a	n/a
31	CTCF	chr20:52276805-52276925	GM12878	blood:	n/a	n/a
32	CTCF	chr20:52276799-52276881	Pancreas_OC	pancreas:	n/a	n/a
33	CTCF	chr20:52278360-52278510	HepG2	liver:	n/a	n/a
34	CTCF	chr20:52277467-52277824	GM12878	blood:	n/a	n/a
35	CTCF	chr20:52277280-52277430	GM12866	blood:	n/a	n/a
36	CTCF	chr20:52277580-52277730	GM12868	blood:	n/a	n/a
37	CTCF	chr20:52277540-52277690	GM06990	blood:	n/a	n/a
38	CTCF	chr20:52277620-52277770	GM12872	blood:	n/a	n/a
39	CTCF	chr20:52277500-52277650	GM12864	blood:	n/a	n/a
40	CTCF	chr20:52282600-52282750	GM12865	blood:	n/a	n/a
41	CTCF	chr20:52277465-52277758	K562	blood:	n/a	n/a
42	CTCF	chr20:52282780-52282930	HepG2	liver:	n/a	n/a
43	CTCF	chr20:52277540-52277690	MCF-7	breast:	n/a	n/a
44	CTCF	chr20:52277460-52277610	AG10803	skin:	n/a	n/a
45	CTCF	chr20:52277600-52277750	GM12873	blood:	n/a	n/a
46	E2F6	chr20:52276563-52277227	A549	lung:	n/a	chr20:52276930-52276942 chr20:52276639-52276651 chr20:52276930-52276939
47	E2F6	chr20:52276705-52277121	H1-hESC	embryonic stem cell:	n/a	chr20:52276930-52276942 chr20:52276930-52276939
48	EBF1	chr20:52277523-52277749	GM12878	blood:	n/a	chr20:52277618-52277629
49	EBF1	chr20:52277508-52277832	GM12878	blood:	n/a	chr20:52277618-52277629
50	ELF1	chr20:52276527-52276990	GM12878	blood:	n/a	n/a

(count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:52276947-52276997	SK-N-SH	brain:	n/a
2	chr20:52276947-52276997	SK-N-SH	brain:	n/a
3	chr20:52277572-52277622	ovcar-3	ovarian:	n/a
4	chr20:52276760-52276810	AG10803	skin:	n/a
5	chr20:52276947-52276997	ovcar-3	ovarian:	n/a
6	chr20:52276760-52276810	NHDF-neo	bronchial:	n/a
7	chr20:52276760-52276810	AG09319	gingival:	n/a
8	chr20:52276947-52276997	NHBE	bronchial:	n/a
9	chr20:52276760-52276810	MCF-7	breast:	n/a
10	chr20:52277572-52277622	U87	brain:	n/a
11	chr20:52276760-52276810	MCF10A-Er-Src	breast:	n/a
12	chr20:52276947-52276997	ECC-1	luminal epithelium:	n/a
13	chr20:52276760-52276810	AG09309	skin:	n/a
14	chr20:52276947-52276997	CMK	blood:	n/a
15	chr20:52276947-52276997	T-47D	breast:	n/a
16	chr20:52276760-52276810	HUVEC	blood vessel:	n/a
17	chr20:52277050-52277100	NB4	blood:	n/a
18	chr20:52276760-52276810	HCT-116	colon:	n/a
19	chr20:52277050-52277100	SK-N-SH	brain:	n/a
20	chr20:52276947-52276997	IMR90	lung:	fetal
21	chr20:52277572-52277622	IMR90	lung:	fetal
22	chr20:52277050-52277100	PFSK-1	brain:	n/a
23	chr20:52277050-52277100	ProgFib	skin:	n/a
24	chr20:52277050-52277100	AG09309	skin:	n/a
25	chr20:52276947-52276997	MCF10A-Er-Src	breast:	n/a
26	chr20:52276947-52276997	BJ	skin:	n/a
27	chr20:52277572-52277622	GM12891	blood:	n/a
28	chr20:52277572-52277622	NHBE	bronchial:	n/a
29	chr20:52277572-52277622	HIPEpiC	eye:	n/a
30	chr20:52277050-52277100	GM06990	blood:	n/a
31	chr20:52276760-52276810	HCPEpiC	choroid plexus:	n/a
32	chr20:52276947-52276997	AG09309	skin:	n/a
33	chr20:52276760-52276810	Hepatocyte	liver:	n/a
34	chr20:52276947-52276997	HRPEpiC	eye:	n/a
35	chr20:52277050-52277100	AG10803	skin:	n/a
36	chr20:52277572-52277622	Jurkat	blood:	n/a
37	chr20:52276947-52276997	Jurkat	blood:	n/a
38	chr20:52277050-52277100	RPTEC	kidney:	n/a
39	chr20:52276947-52276997	HAEpiC	amniotic membrane:	n/a
40	chr20:52277572-52277622	AG04449	skin:	fetal
41	chr20:52277050-52277100	GM12891	blood:	n/a
42	chr20:52276947-52276997	HEK293	kidney:	embryo
43	chr20:52277050-52277100	HCF	heart:	n/a
44	chr20:52276760-52276810	ECC-1	luminal epithelium:	n/a
45	chr20:52277572-52277622	HepG2	liver:	n/a
46	chr20:52276760-52276810	HRPEpiC	eye:	n/a
47	chr20:52277050-52277100	GM19239	blood:	n/a
48	chr20:52277050-52277100	ovcar-3	ovarian:	n/a
49	chr20:52277572-52277622	GM06990	blood:	n/a
50	chr20:52276947-52276997	SK-N-MC	brain:	n/a

(count:79 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr20:52281172..52282725-chr8:95268610..95270828,2	MCF-7	breast:
2	chr20:52209870..52210455-chr20:52277768..52278453,2	MCF-7	breast:
3	chr20:52277347..52278945-chr20:52765329..52766278,10	MCF-7	breast:
4	chr1:151030704..151033021-chr20:52275086..52277981,2	MCF-7	breast:
5	chr1:182353766..182355662-chr20:52277139..52279207,2	MCF-7	breast:
6	chr20:52276634..52278992-chr20:52292801..52294676,2	K562	blood:
7	chr20:52278107..52278961-chr4:135702927..135703705,2	MCF-7	breast:
8	chr20:52278028..52278937-chr20:52811392..52812502,5	MCF-7	breast:
9	chr20:52277654..52278913-chr20:52296328..52297068,3	MCF-7	breast:
10	chr17:56716876..56717591-chr20:52278075..52278814,2	MCF-7	breast:
11	chr20:52278028..52278967-chr20:52402219..52403203,5	MCF-7	breast:
12	chr20:52278414..52279052-chr20:55838156..55839139,2	MCF-7	breast:
13	chr20:45985766..45988704-chr20:52276901..52279846,3	MCF-7	breast:
14	chr20:52278275..52278962-chr20:52390065..52390855,2	MCF-7	breast:
15	chr20:46619897..46622713-chr20:52276800..52278614,2	MCF-7	breast:
16	chr20:52277828..52280827-chr7:7693453..7695076,2	MCF-7	breast:
17	chr20:52278028..52279035-chr20:52327271..52328369,11	MCF-7	breast:
18	chr20:52278028..52278954-chr20:52811294..52812502,10	MCF-7	breast:
19	chr20:52275241..52279422-chr20:55839192..55841945,5	MCF-7	breast:
20	chr15:64237957..64238498-chr20:52278114..52278867,2	MCF-7	breast:
21	chr20:46387498..46391850-chr20:52273368..52277391,5	MCF-7	breast:
22	chr20:52278378..52278945-chr20:52765351..52765973,2	MCF-7	breast:
23	chr20:52277928..52278961-chr3:32489011..32489511,3	MCF-7	breast:
24	chr20:52284172..52286343-chr20:55840232..55843068,2	MCF-7	breast:
25	chr20:52283302..52285226-chr20:55803017..55805365,2	MCF-7	breast:
26	chr20:52197847..52200786-chr20:52274972..52277745,2	K562	blood:
27	chr20:52278103..52278773-chr20:52444653..52445447,2	MCF-7	breast:
28	chr20:52278292..52278903-chr20:52480742..52481616,3	MCF-7	breast:
29	chr20:52278080..52279014-chr20:52532287..52532875,2	MCF-7	breast:
30	chr17:59800235..59800999-chr20:52278081..52278971,3	MCF-7	breast:
31	chr20:52207380..52210919-chr20:52274073..52277583,3	K562	blood:
32	chr17:59954257..59955881-chr20:52276255..52278092,2	MCF-7	breast:
33	chr17:59475937..59477859-chr20:52276880..52278926,2	MCF-7	breast:
34	chr20:52209812..52210750-chr20:52277141..52278086,2	MCF-7	breast:
35	chr20:52195959..52198934-chr20:52278537..52280867,2	K562	blood:
36	chr20:52278383..52278965-chr20:52482508..52483417,2	MCF-7	breast:
37	chr20:52278291..52280795-chr3:49064325..49066546,2	MCF-7	breast:
38	chr20:52195567..52196120-chr20:52278101..52278912,2	MCF-7	breast:
39	chr20:52278066..52278981-chr20:52357949..52358822,3	MCF-7	breast:
40	chr20:52277378..52279205-chr20:55847044..55849941,2	MCF-7	breast:
41	chr20:52277061..52277868-chr7:120704397..120705347,2	MCF-7	breast:
42	chr20:52238544..52239393-chr20:52278148..52278651,2	MCF-7	breast:
43	chr20:52278001..52278960-chr20:52341336..52342351,16	MCF-7	breast:
44	chr15:51177817..51178676-chr20:52278485..52279434,2	MCF-7	breast:
45	chr20:52278061..52278601-chr20:52599248..52600106,2	MCF-7	breast:
46	chr20:52278094..52278874-chr20:52765343..52766265,2	MCF-7	breast:
47	chr20:52278079..52279035-chr20:52327271..52328369,9	MCF-7	breast:
48	chr1:149857213..149858924-chr20:52287835..52289728,2	MCF-7	breast:
49	chr20:52239835..52240474-chr20:52277583..52278444,2	MCF-7	breast:
50	chr20:45986293..45988559-chr20:52279883..52282236,2	MCF-7	breast:

No data

Variant related genes	Relation type
RNU7-14P	TF binding region
RNU7-14P	CpG island
ENSG00000135821	chromatin interactions
ENSG00000178035	chromatin interactions
ENSG00000197622	chromatin interactions
ENSG00000226308	chromatin interactions
ENSG00000171940	chromatin interactions
ENSG00000101144	chromatin interactions
ENSG00000267280	chromatin interactions
ENSG00000267131	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000106635	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000163191	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000235415	chromatin interactions
ENSG00000107829	chromatin interactions
ENSG00000121068	chromatin interactions

Extended variants
information (count: 547 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:547 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6068608	chr20:52276452-52276453	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs144940208	chr20:52276462-52276463	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs57989973	chr20:52276524-52276525	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs71961234	chr20:52276528-52276529	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs549076828	chr20:52276531-52276532	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs10534879	chr20:52276532-52276533	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs199774595	chr20:52276533-52276534	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs528284632	chr20:52276534-52276535	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs200761688	chr20:52276539-52276540	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs149066898	chr20:52276578-52276579	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs575827133	chr20:52276594-52276595	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs16998298	chr20:52276602-52276603	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs561598868	chr20:52276626-52276627	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs549040375	chr20:52276627-52276628	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs113693753	chr20:52276642-52276643	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs546932465	chr20:52276668-52276669	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs560491310	chr20:52276731-52276732	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs377562322	chr20:52276738-52276739	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs66525220	chr20:52276794-52276795	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs34459365	chr20:52276802-52276803	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs571148679	chr20:52276835-52276836	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs73620502	chr20:52276845-52276846	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs35545748	chr20:52276868-52276869	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs553097895	chr20:52276906-52276907	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs74179225	chr20:52276928-52276929	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs573802767	chr20:52276954-52276955	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs115563351	chr20:52276968-52276969	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs181774812	chr20:52276973-52276974	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs550514673	chr20:52277002-52277003	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs186890567	chr20:52277050-52277051	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs143090594	chr20:52277052-52277053	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs555923944	chr20:52277091-52277092	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs115992257	chr20:52277117-52277118	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs77618848	chr20:52277148-52277149	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs558258778	chr20:52277158-52277159	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs370413977	chr20:52277168-52277169	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs575265700	chr20:52277193-52277194	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs544758411	chr20:52277204-52277205	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs575957934	chr20:52277208-52277209	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs561332176	chr20:52277276-52277277	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs575031329	chr20:52277299-52277300	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs559218954	chr20:52277320-52277321	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs61462958	chr20:52277324-52277325	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs560488536	chr20:52277328-52277329	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs77392900	chr20:52277348-52277349	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs538564583	chr20:52277349-52277350	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs558096119	chr20:52277351-52277352	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs552684887	chr20:52277411-52277412	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs562963237	chr20:52277415-52277416	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs373304413	chr20:52277418-52277419	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	21693616	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
colon cancer	17210682	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	22028636	CNVD
Breast cancer	21264507	CNVD
Thyroid cancer	19087340	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Colorectal cancer	19359472	CNVD
Gastric cancer	17167181	CNVD
Myeloproliferative neoplasm	19047681	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Oral cancer	21386901	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myelodysplastic syndrome	21251322	CNVD
Ductal carcinoma	22052326	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Colorectal cancer	16774939	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Gastric cancer	20585902	CNVD
Ductal carcinoma	18381933	CNVD
Cancer	21129771	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	20864512	CNVD
Ovarian cancer	22174824	CNVD
Lung cancer	16740712	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16620391	CNVD
Okamoto syndrome	17623483	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Cervical cancer	16585170	CNVD
Ovarian cancer	20844748	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20459607	CNVD
Gastric cancer	18160780	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:460 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52268800-52276600	Weak transcription	Right Atrium	heart
2	chr20:52269200-52276600	Weak transcription	Psoas Muscle	Psoas
3	chr20:52269200-52276600	Weak transcription	Right Ventricle	heart
4	chr20:52269200-52276600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr20:52269800-52276600	Weak transcription	Fetal Stomach	stomach
6	chr20:52270000-52277000	Weak transcription	Fetal Heart	heart
7	chr20:52270200-52276600	Weak transcription	Brain Hippocampus Middle	brain
8	chr20:52270200-52276600	Weak transcription	Pancreas	Pancrea
9	chr20:52270400-52276600	Weak transcription	Fetal Muscle Leg	muscle
10	chr20:52270400-52276600	Weak transcription	Fetal Thymus	thymus
11	chr20:52270400-52276600	Weak transcription	Left Ventricle	heart
12	chr20:52270400-52276600	Weak transcription	Lung	lung
13	chr20:52271800-52276600	Weak transcription	Colonic Mucosa	Colon
14	chr20:52272200-52276600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr20:52272200-52276600	Weak transcription	Thymus	Thymus
16	chr20:52273000-52276600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr20:52273000-52276600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr20:52273000-52276600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr20:52273200-52276600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr20:52273200-52276600	Weak transcription	Fetal Intestine Small	intestine
21	chr20:52273200-52276600	Weak transcription	Ovary	ovary
22	chr20:52273200-52276600	Weak transcription	Small Intestine	intestine
23	chr20:52273200-52276800	Weak transcription	Stomach Mucosa	stomach
24	chr20:52273200-52277200	Weak transcription	HSMMtube	muscle
25	chr20:52273400-52276600	Weak transcription	Colon Smooth Muscle	Colon
26	chr20:52273400-52276600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr20:52273800-52276600	Weak transcription	NH-A	brain
28	chr20:52274000-52276600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr20:52274000-52276600	Weak transcription	Adipose Nuclei	Adipose
30	chr20:52274200-52276600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr20:52274200-52276600	Weak transcription	Brain Anterior Caudate	brain
32	chr20:52274200-52276800	Weak transcription	Dnd41	blood
33	chr20:52274400-52276600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr20:52274400-52276600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr20:52274400-52276800	Weak transcription	Fetal Kidney	kidney
36	chr20:52274600-52276600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr20:52274600-52276600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr20:52274600-52276600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr20:52274600-52276600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr20:52274600-52276600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr20:52274600-52276600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr20:52274600-52276600	Weak transcription	Liver	Liver
43	chr20:52274600-52276600	Weak transcription	Brain Germinal Matrix	brain
44	chr20:52274600-52276600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr20:52274600-52276600	Weak transcription	Osteobl	bone
46	chr20:52274600-52276800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr20:52274600-52277000	Weak transcription	HSMM	muscle
48	chr20:52274600-52277200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr20:52274600-52277400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr20:52274600-52277400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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