Variant report

Variant	nsv510778
Chromosome Location	chr20:824135-886615
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:856)
CpG islands
(count:1343)
Chromatin interactive
region (count:44)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:856 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr20:869910-870110	K562	blood:	n/a	n/a
2	ATF2	chr20:865629-865937	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr20:865721-866064	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL11A	chr20:872390-872700	GM12878	blood:	n/a	n/a
5	BCLAF1	chr20:827526-828016	GM12878	blood:	n/a	n/a
6	BHLHE40	chr20:843665-843865	K562	blood:	n/a	n/a
7	BHLHE40	chr20:827662-827773	GM12878	blood:	n/a	n/a
8	BHLHE40	chr20:872419-872632	GM12878	blood:	n/a	n/a
9	BRCA1	chr20:865753-865948	H1-hESC	embryonic stem cell:	n/a	n/a
10	BRCA1	chr20:837027-837593	Hela-S3	cervix:	n/a	n/a
11	BRCA1	chr20:827369-827485	GM12878	blood:	n/a	n/a
12	CEBPB	chr20:862225-862397	K562	blood:	n/a	chr20:862304-862315
13	CEBPB	chr20:836994-837494	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr20:862129-862446	A549	lung:	n/a	chr20:862304-862315
15	CEBPB	chr20:869817-870053	IMR90	lung:	n/a	chr20:869910-869921
16	CEBPB	chr20:861922-862747	HCT-116	colon:	n/a	chr20:862304-862315
17	CEBPB	chr20:859485-859685	K562	blood:	n/a	n/a
18	CEBPB	chr20:862212-862389	HepG2	liver:	n/a	chr20:862304-862315
19	CEBPB	chr20:846101-846321	Hela-S3	cervix:	n/a	chr20:846220-846231
20	CEBPB	chr20:848634-848889	HepG2	liver:	n/a	chr20:848747-848758
21	CEBPB	chr20:862114-862496	Hela-S3	cervix:	n/a	chr20:862304-862315
22	CEBPB	chr20:848749-848853	H1-hESC	embryonic stem cell:	n/a	n/a
23	CEBPB	chr20:846069-846342	A549	lung:	n/a	chr20:846220-846231
24	CEBPB	chr20:861810-862898	HCT-116	colon:	n/a	chr20:862304-862315
25	CEBPB	chr20:862067-862511	A549	lung:	n/a	chr20:862304-862315
26	CEBPB	chr20:869780-870105	HepG2	liver:	n/a	chr20:869910-869921
27	CEBPB	chr20:846062-846381	HepG2	liver:	n/a	chr20:846220-846231
28	CEBPB	chr20:862004-862529	A549	lung:	n/a	chr20:862304-862315
29	CEBPB	chr20:865627-866037	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr20:869779-870107	A549	lung:	n/a	chr20:869910-869921
31	CEBPB	chr20:842683-842824	K562	blood:	n/a	n/a
32	CEBPB	chr20:848681-848796	K562	blood:	n/a	chr20:848747-848758
33	CEBPB	chr20:862121-862486	IMR90	lung:	n/a	chr20:862304-862315
34	CEBPB	chr20:876270-876520	HepG2	liver:	n/a	chr20:876366-876377
35	CHD1	chr20:827629-827678	GM12878	blood:	n/a	n/a
36	CHD2	chr20:865652-865989	H1-hESC	embryonic stem cell:	n/a	n/a
37	CHD2	chr20:853790-854128	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD2	chr20:827618-827694	GM12878	blood:	n/a	n/a
39	CHD2	chr20:862077-862362	Hela-S3	cervix:	n/a	n/a
40	CHD2	chr20:837024-837488	Hela-S3	cervix:	n/a	n/a
41	CREB1	chr20:869844-870179	K562	blood:	n/a	n/a
42	CREB1	chr20:869703-870120	HepG2	liver:	n/a	n/a
43	CREB1	chr20:869684-870184	HepG2	liver:	n/a	n/a
44	CREB1	chr20:836990-837463	A549	lung:	n/a	n/a
45	CTCF	chr20:865820-865970	HUVEC	blood vessel:	n/a	n/a
46	CTCF	chr20:840500-840650	HMF	breast:	n/a	n/a
47	CTCF	chr20:853861-854066	MCF-7	breast:	n/a	chr20:853954-853975 chr20:853952-853970
48	CTCF	chr20:853880-854030	Hela-S3	cervix:	n/a	chr20:853954-853975 chr20:853952-853970
49	CTCF	chr20:840560-840710	NB4	blood:	n/a	n/a
50	CTCF	chr20:825647-825727	H1-hESC	embryonic stem cell:	n/a	n/a

(count:1343 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:825408-825458	H1-hESC	embryonic stem cell:	embryo
2	chr20:825408-825458	H1-hESC	embryonic stem cell:	embryo
3	chr20:825155-825205	HNPCEpiC	eye:	n/a
4	chr20:868404-868454	HCPEpiC	choroid plexus:	n/a
5	chr20:868404-868454	HMEC	breast:	n/a
6	chr20:826424-826474	HEEpiC	esophagus:	n/a
7	chr20:824422-824472	HCF	heart:	n/a
8	chr20:865829-865879	Hela-S3	cervix:	n/a
9	chr20:868404-868454	HUVEC	blood vessel:	n/a
10	chr20:853509-853559	AG04449	skin:	fetal
11	chr20:825052-825102	BE2_C	brain:	n/a
12	chr20:824422-824472	AG10803	skin:	n/a
13	chr20:868404-868454	SK-N-SH_RA	brain:	n/a
14	chr20:825798-825848	AG09309	skin:	n/a
15	chr20:824422-824472	NHDF-neo	bronchial:	n/a
16	chr20:826424-826474	AG09309	skin:	n/a
17	chr20:866087-866137	GM19239	blood:	n/a
18	chr20:868404-868454	HCT-116	colon:	n/a
19	chr20:825415-825465	T-47D	breast:	n/a
20	chr20:826023-826073	HAEpiC	amniotic membrane:	n/a
21	chr20:825634-825684	AG09319	gingival:	n/a
22	chr20:865829-865879	AG10803	skin:	n/a
23	chr20:865829-865879	HCM	heart:	n/a
24	chr20:824641-824691	NT2-D1	testis:	n/a
25	chr20:825240-825290	GM12891	blood:	n/a
26	chr20:825634-825684	HepG2	liver:	n/a
27	chr20:866011-866061	GM06990	blood:	n/a
28	chr20:825052-825102	HRE	kidney:	n/a
29	chr20:825155-825205	HRPEpiC	eye:	n/a
30	chr20:825634-825684	HL-60	blood:	n/a
31	chr20:866011-866061	AG09319	gingival:	n/a
32	chr20:825634-825684	ProgFib	skin:	n/a
33	chr20:825268-825318	PFSK-1	brain:	n/a
34	chr20:825155-825205	HCF	heart:	n/a
35	chr20:828445-828495	SK-N-SH_RA	brain:	n/a
36	chr20:826023-826073	GM19239	blood:	n/a
37	chr20:825268-825318	IMR90	lung:	fetal
38	chr20:865780-865830	SK-N-MC	brain:	n/a
39	chr20:825155-825205	HCM	heart:	n/a
40	chr20:825408-825458	GM19239	blood:	n/a
41	chr20:865829-865879	SK-N-MC	brain:	n/a
42	chr20:824641-824691	IMR90	lung:	fetal
43	chr20:825489-825539	NB4	blood:	n/a
44	chr20:824641-824691	MCF10A-Er-Src	breast:	n/a
45	chr20:825798-825848	AoSMC	blood vessel:	n/a
46	chr20:826424-826474	HCPEpiC	choroid plexus:	n/a
47	chr20:824641-824691	HEEpiC	esophagus:	n/a
48	chr20:865954-866004	HRCEpiC	kidney:	n/a
49	chr20:825634-825684	CMK	blood:	n/a
50	chr20:825634-825684	HNPCEpiC	eye:	n/a

(count:44 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:827615..829862-chr20:830372..832025,2	K562	blood:
2	chr20:822774..824737-chr20:855647..857303,2	MCF-7	breast:
3	chr20:803790..805882-chr20:822673..824753,2	K562	blood:
4	chr20:858282..861279-chr20:864400..866707,2	K562	blood:
5	chr20:826039..828465-chr20:834525..836848,2	MCF-7	breast:
6	chr20:819681..824311-chr20:835025..839073,5	MCF-7	breast:
7	chr20:859998..862638-chr20:865942..867662,2	MCF-7	breast:
8	chr20:854802..856331-chr20:1098380..1100716,2	MCF-7	breast:
9	chr20:858282..861279-chr20:864400..866707,2	K562	blood:
10	chr20:852716..855499-chr20:860889..862928,2	MCF-7	breast:
11	chr20:824353..826302-chr20:829157..830739,3	MCF-7	breast:
12	chr20:835633..837768-chr20:861494..863421,2	MCF-7	breast:
13	chr20:859998..862638-chr20:865942..867662,2	MCF-7	breast:
14	chr20:836809..839072-chr20:903298..905274,2	K562	blood:
15	chr20:826039..828465-chr20:834525..836848,2	MCF-7	breast:
16	chr20:847957..850389-chr20:899044..901532,2	K562	blood:
17	chr20:799766..800279-chr20:824503..825249,2	K562	blood:
18	chr20:857198..860086-chr20:873899..876217,2	MCF-7	breast:
19	chr11:64545092..64545731-chr20:861830..862385,2	HCT-116	colon:
20	chr20:873612..875715-chr20:890183..892090,2	MCF-7	breast:
21	chr20:822278..824306-chr20:931602..934155,2	MCF-7	breast:
22	chr20:839601..842005-chr20:844504..846072,2	K562	blood:
23	chr20:815646..819865-chr20:821016..824733,4	MCF-7	breast:
24	chr20:852716..855499-chr20:860889..862928,2	MCF-7	breast:
25	chr20:822258..824551-chr20:869597..872027,2	MCF-7	breast:
26	chr20:857198..860086-chr20:873899..876217,2	MCF-7	breast:
27	chr20:835633..837768-chr20:861494..863421,2	MCF-7	breast:
28	chr20:821593..824670-chr20:933298..935566,3	MCF-7	breast:
29	chr20:821988..824622-chr20:841989..843992,2	MCF-7	breast:
30	chr20:820613..823801-chr20:828835..832638,4	MCF-7	breast:
31	chr20:837275..840230-chr20:841827..843655,2	K562	blood:
32	chr20:837275..840230-chr20:841827..843655,2	K562	blood:
33	chr20:811543..814638-chr20:820592..824700,6	MCF-7	breast:
34	chr20:809347..810136-chr20:883815..884702,3	MCF-7	breast:
35	chr20:801514..803680-chr20:825939..828597,2	MCF-7	breast:
36	chr20:825224..827249-chr20:896016..898725,2	MCF-7	breast:
37	chr20:827615..829862-chr20:830372..832025,2	K562	blood:
38	chr20:822774..824737-chr20:855647..857303,2	MCF-7	breast:
39	chr20:820561..824407-chr20:840052..842078,3	MCF-7	breast:
40	chr20:819782..827633-chr20:832117..838793,13	MCF-7	breast:
41	chr20:822258..824551-chr20:869597..872027,2	MCF-7	breast:
42	chr20:821988..824622-chr20:841989..843992,2	MCF-7	breast:
43	chr20:839601..842005-chr20:844504..846072,2	K562	blood:
44	chr20:814056..816393-chr20:824842..826846,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANGPT4-1	chr20:837119-838075	NONHSAT078083

No data

Variant related genes	Relation type
FAM110A	TF binding region
ENSG00000101278	TF binding region
FAM110A	CpG island
ENSG00000101278	CpG island
ENSG00000168066	chromatin interactions
ENSG00000101280	chromatin interactions
ENSG00000101278	chromatin interactions
ENSG00000125898	chromatin interactions
ENSG00000125818	chromatin interactions

Extended variants
information (count: 2630 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:2630 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377696225	chr20:824225-824226	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs569631352	chr20:824238-824239	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs7262185	chr20:824251-824252	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs76564722	chr20:824269-824270	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs565426212	chr20:824290-824291	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs534749609	chr20:824313-824314	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs115305283	chr20:824331-824332	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs577537075	chr20:824334-824335	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs181959765	chr20:824342-824343	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs636681	chr20:824422-824423	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs576814234	chr20:824431-824432	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs11906459	chr20:824448-824449	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs562311141	chr20:824477-824478	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs76386383	chr20:824496-824497	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs541543487	chr20:824505-824506	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs66496369	chr20:824522-824523	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs533325420	chr20:824530-824531	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs372039080	chr20:824626-824627	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs116275551	chr20:824641-824642	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs184225012	chr20:824642-824643	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs528369688	chr20:824646-824647	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs529189549	chr20:824666-824667	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs548750628	chr20:824667-824668	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs565564249	chr20:824685-824686	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs534537234	chr20:824735-824736	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs557796809	chr20:824736-824737	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs571261628	chr20:824759-824760	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs373921920	chr20:824875-824876	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs6055282	chr20:824894-824895	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs138470527	chr20:824897-824898	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs79607300	chr20:825006-825007	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs114294582	chr20:825032-825033	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs542576603	chr20:825062-825063	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs58588343	chr20:825083-825084	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs650117	chr20:825085-825086	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs397767580	chr20:825091-825092	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs397726178	chr20:825092-825093	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs555975786	chr20:825193-825194	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs572573383	chr20:825294-825295	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs541280903	chr20:825296-825297	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs75434277	chr20:825319-825320	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs538423469	chr20:825384-825385	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs578071324	chr20:825395-825396	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs562382036	chr20:825418-825419	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs543401431	chr20:825433-825434	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs563377275	chr20:825484-825485	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs529130062	chr20:825502-825503	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs548835258	chr20:825503-825504	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs6140402	chr20:825556-825557	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs144349814	chr20:825558-825559	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Glioblastoma multiforme	22286061	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	19455253	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17603634	CNVD
Colorectal cancer	19359472	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16774939	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
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
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Gastric cancer	17908304	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	17426248	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1286 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:817200-825400	Weak transcription	Dnd41	blood
2	chr20:820000-824800	Weak transcription	HUVEC	blood vessel
3	chr20:822000-824800	Weak transcription	Psoas Muscle	Psoas
4	chr20:822200-825000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr20:822400-824400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr20:822400-825000	Weak transcription	Osteobl	bone
7	chr20:822400-825200	Weak transcription	Ovary	ovary
8	chr20:822400-825200	Enhancers	Small Intestine	intestine
9	chr20:822600-824200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr20:822600-824400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr20:822600-824600	Weak transcription	Left Ventricle	heart
12	chr20:822600-824800	Enhancers	Primary T cells fromperipheralblood	blood
13	chr20:822600-824800	Weak transcription	NHLF	lung
14	chr20:822600-825000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr20:822600-825200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr20:822800-824600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
17	chr20:822800-824800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr20:822800-824800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr20:822800-824800	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr20:822800-824800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr20:822800-824800	Weak transcription	Liver	Liver
22	chr20:822800-824800	Weak transcription	Right Atrium	heart
23	chr20:822800-824800	Weak transcription	A549	lung
24	chr20:822800-825200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr20:822800-825200	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr20:822800-825200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr20:823000-825000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr20:823000-825200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr20:823000-825400	Enhancers	Placenta Amnion	Placenta Amnion
30	chr20:823000-825400	Flanking Active TSS	NHEK	skin
31	chr20:823000-825600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr20:823200-824200	Weak transcription	K562	blood
33	chr20:823200-824400	Weak transcription	Right Ventricle	heart
34	chr20:823200-824600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr20:823200-824600	Weak transcription	GM12878-XiMat	blood
36	chr20:823200-824800	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr20:823200-825200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr20:823200-825200	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr20:823200-825200	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr20:823200-825200	Enhancers	Placenta	Placenta
41	chr20:823400-824200	Bivalent Enhancer	Primary T cells from cord blood	blood
42	chr20:823400-824200	Enhancers	Duodenum Mucosa	Duodenum
43	chr20:823400-824200	Enhancers	HMEC	breast
44	chr20:823400-824400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr20:823400-824400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr20:823400-824400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr20:823400-824400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr20:823400-824400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr20:823400-824400	Weak transcription	Colonic Mucosa	Colon
50	chr20:823400-824400	Weak transcription	Fetal Heart	heart

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