Variant report

Variant	nsv882471
Chromosome Location	chr5:100234439-100362071
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1103)
CpG islands
(count:1587)
Chromatin interactive
region (count:21)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1103 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:100241646-100241779	K562	blood:	n/a	n/a
2	ATF2	chr5:100235580-100236326	GM12878	blood:	n/a	n/a
3	ATF2	chr5:100234128-100235215	GM12878	blood:	n/a	n/a
4	ATF2	chr5:100345748-100346166	GM12878	blood:	n/a	n/a
5	ATF2	chr5:100238690-100240555	GM12878	blood:	n/a	n/a
6	ATF2	chr5:100235712-100238565	GM12878	blood:	n/a	n/a
7	ATF2	chr5:100237262-100237919	GM12878	blood:	n/a	n/a
8	ATF2	chr5:100235976-100236378	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr5:100238750-100239738	GM12878	blood:	n/a	n/a
10	ATF2	chr5:100234174-100235135	GM12878	blood:	n/a	n/a
11	BACH1	chr5:100236726-100236950	H1-hESC	embryonic stem cell:	n/a	n/a
12	BATF	chr5:100236480-100236773	GM12878	blood:	n/a	n/a
13	BATF	chr5:100235812-100236452	GM12878	blood:	n/a	chr5:100236138-100236149
14	BATF	chr5:100238184-100238491	GM12878	blood:	n/a	n/a
15	BATF	chr5:100234224-100234571	GM12878	blood:	n/a	n/a
16	BATF	chr5:100238153-100238515	GM12878	blood:	n/a	n/a
17	BATF	chr5:100234621-100234895	GM12878	blood:	n/a	n/a
18	BATF	chr5:100239024-100239641	GM12878	blood:	n/a	n/a
19	BCL11A	chr5:100236088-100236405	GM12878	blood:	n/a	n/a
20	BCL11A	chr5:100345832-100346131	GM12878	blood:	n/a	n/a
21	BCL11A	chr5:100234657-100234899	GM12878	blood:	n/a	n/a
22	BCL11A	chr5:100236477-100237165	GM12878	blood:	n/a	chr5:100236727-100236736
23	BCL11A	chr5:100236500-100236697	GM12878	blood:	n/a	n/a
24	BCL3	chr5:100236431-100236840	GM12878	blood:	n/a	chr5:100236727-100236736
25	BCL3	chr5:100238650-100239309	GM12878	blood:	n/a	chr5:100239046-100239055
26	BCL3	chr5:100239329-100239646	GM12878	blood:	n/a	n/a
27	BCL3	chr5:100234206-100234538	GM12878	blood:	n/a	n/a
28	BCLAF1	chr5:100239951-100240633	GM12878	blood:	n/a	chr5:100240273-100240282
29	BCLAF1	chr5:100237265-100238536	GM12878	blood:	n/a	chr5:100237862-100237871
30	BCLAF1	chr5:100238657-100239850	GM12878	blood:	n/a	chr5:100239046-100239055
31	BCLAF1	chr5:100239835-100240634	GM12878	blood:	n/a	chr5:100240273-100240282
32	BCLAF1	chr5:100235706-100236424	GM12878	blood:	n/a	n/a
33	BCLAF1	chr5:100238723-100239804	GM12878	blood:	n/a	chr5:100239046-100239055
34	BCLAF1	chr5:100236473-100238661	GM12878	blood:	n/a	chr5:100237862-100237871 chr5:100236727-100236736
35	BCLAF1	chr5:100235439-100237176	GM12878	blood:	n/a	chr5:100236727-100236736
36	BHLHE40	chr5:100360099-100360263	GM12878	blood:	n/a	n/a
37	BHLHE40	chr5:100234200-100235505	GM12878	blood:	n/a	n/a
38	BHLHE40	chr5:100241551-100241621	GM12878	blood:	n/a	n/a
39	BHLHE40	chr5:100238806-100240722	GM12878	blood:	n/a	n/a
40	BHLHE40	chr5:100235833-100237237	GM12878	blood:	n/a	n/a
41	BRCA1	chr5:100238591-100239059	GM12878	blood:	n/a	n/a
42	BRCA1	chr5:100236512-100237454	GM12878	blood:	n/a	n/a
43	BRCA1	chr5:100235959-100236181	H1-hESC	embryonic stem cell:	n/a	n/a
44	BRCA1	chr5:100240236-100240501	GM12878	blood:	n/a	n/a
45	CEBPB	chr5:100246671-100246923	IMR90	lung:	n/a	chr5:100246897-100246909 chr5:100246824-100246835
46	CEBPB	chr5:100246204-100246278	A549	lung:	n/a	chr5:100246260-100246271
47	CEBPB	chr5:100332425-100332587	HepG2	liver:	n/a	n/a
48	CEBPB	chr5:100360066-100360197	HepG2	liver:	n/a	chr5:100360161-100360172
49	CEBPB	chr5:100283691-100283880	Hela-S3	cervix:	n/a	chr5:100283834-100283843 chr5:100283794-100283805 chr5:100283832-100283843 chr5:100283794-100283803 chr5:100283834-100283845 chr5:100283832-100283845
50	CEBPB	chr5:100345010-100345307	A549	lung:	n/a	chr5:100345122-100345133

(count:1587 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:100239017-100239067	HCT-116	colon:	n/a
2	chr5:100239017-100239067	HCT-116	colon:	n/a
3	chr5:100236783-100236833	RPTEC	kidney:	n/a
4	chr5:100236783-100236833	SK-N-SH	brain:	n/a
5	chr5:100234775-100234825	PANC-1	pancreas:	n/a
6	chr5:100236841-100236891	HUVEC	blood vessel:	n/a
7	chr5:100238983-100239033	GM12892	blood:	n/a
8	chr5:100238384-100238434	HCPEpiC	choroid plexus:	n/a
9	chr5:100239319-100239369	HCF	heart:	n/a
10	chr5:100236339-100236389	SK-N-SH	brain:	n/a
11	chr5:100240059-100240109	AG09319	gingival:	n/a
12	chr5:100236783-100236833	Hela-S3	cervix:	n/a
13	chr5:100237279-100237329	GM12892	blood:	n/a
14	chr5:100239319-100239369	HRE	kidney:	n/a
15	chr5:100239017-100239067	AG04450	lung:	fetal
16	chr5:100239319-100239369	HL-60	blood:	n/a
17	chr5:100236199-100236249	AG04449	skin:	fetal
18	chr5:100241630-100241680	CMK	blood:	n/a
19	chr5:100236339-100236389	ProgFib	skin:	n/a
20	chr5:100239529-100239579	GM12892	blood:	n/a
21	chr5:100240223-100240273	Jurkat	blood:	n/a
22	chr5:100239919-100239969	K562	blood:	n/a
23	chr5:100236783-100236833	AG09319	gingival:	n/a
24	chr5:100234775-100234825	PrEC	prostate:	n/a
25	chr5:100236649-100236699	GM06990	blood:	n/a
26	chr5:100238655-100238705	Jurkat	blood:	n/a
27	chr5:100238977-100239027	HCPEpiC	choroid plexus:	n/a
28	chr5:100240059-100240109	HCPEpiC	choroid plexus:	n/a
29	chr5:100238655-100238705	HPAEpiC	pulmonary alveolar:	n/a
30	chr5:100237986-100238036	HRCEpiC	kidney:	n/a
31	chr5:100240059-100240109	HepG2	liver:	n/a
32	chr5:100239050-100239100	SK-N-SH	brain:	n/a
33	chr5:100236649-100236699	HNPCEpiC	eye:	n/a
34	chr5:100234775-100234825	HEEpiC	esophagus:	n/a
35	chr5:100238977-100239027	NHBE	bronchial:	n/a
36	chr5:100239919-100239969	AG04449	skin:	fetal
37	chr5:100237986-100238036	Hela-S3	cervix:	n/a
38	chr5:100238977-100239027	HEK293	kidney:	embryo
39	chr5:100239050-100239100	NHDF-neo	bronchial:	n/a
40	chr5:100240223-100240273	Caco-2	colon:	n/a
41	chr5:100241630-100241680	HCM	heart:	n/a
42	chr5:100238655-100238705	GM19239	blood:	n/a
43	chr5:100241630-100241680	GM12891	blood:	n/a
44	chr5:100234775-100234825	ECC-1	luminal epithelium:	n/a
45	chr5:100236199-100236249	MCF-7	breast:	n/a
46	chr5:100239319-100239369	HAEpiC	amniotic membrane:	n/a
47	chr5:100239529-100239579	AG09309	skin:	n/a
48	chr5:100239919-100239969	AG04450	lung:	fetal
49	chr5:100236841-100236891	NH-A	brain:	n/a
50	chr5:100236366-100236416	ECC-1	luminal epithelium:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr5:100351813..100355935-chr5:100358534..100361579,4	K562	blood:
2	chr5:100236783..100238679-chr5:100254153..100256403,2	MCF-7	breast:
3	chr5:100351813..100355935-chr5:100358534..100361579,4	K562	blood:
4	chr5:100235471..100237177-chr5:100239022..100241293,2	MCF-7	breast:
5	chr5:100263056..100263895-chr5:100348346..100349035,2	MCF-7	breast:
6	chr5:100231184..100232741-chr5:100236415..100237958,2	MCF-7	breast:
7	chr5:100226559..100228152-chr5:100235251..100237203,2	MCF-7	breast:
8	chr5:100238724..100241658-chr5:100243337..100246298,3	K562	blood:
9	chr15:75932135..75932772-chr5:100238542..100239334,2	NB4	blood:
10	chr5:100263313..100266095-chr5:100272609..100274168,2	K562	blood:
11	chr5:100263313..100266095-chr5:100272609..100274168,2	K562	blood:
12	chr5:100236783..100238679-chr5:100254153..100256403,2	MCF-7	breast:
13	chr5:100240183..100242753-chr5:100246346..100248554,2	K562	blood:
14	chr5:100237355..100239867-chr5:100247037..100249581,2	MCF-7	breast:
15	chr5:100226411..100229171-chr5:100233547..100235207,2	K562	blood:
16	chr1:149222329..149224621-chr5:100319591..100321091,2	K562	blood:
17	chr5:100235471..100237177-chr5:100239022..100241293,2	MCF-7	breast:
18	chr5:100234012..100237081-chr5:100237134..100240433,4	MCF-7	breast:
19	chr5:100160740..100162427-chr5:100234185..100236458,2	K562	blood:
20	chr5:100240183..100242753-chr5:100246346..100248554,2	K562	blood:
21	chr5:100263056..100263895-chr5:100348346..100349035,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ST8SIA4-1	chr5:100348032-100348800	XLOC_004940
2	lnc-ST8SIA4-1	chr5:100348031-100348800	NONHSAT103014

No data

Variant related genes	Relation type
ST8SIA4	TF binding region
ST8SIA4	CpG island
ENSG00000206737	chromatin interactions
ENSG00000113532	chromatin interactions
ENSG00000177971	chromatin interactions

Extended variants
information (count: 1921 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:1921 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1423384	chr5:100234439-100234440	Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs34588060	chr5:100234454-100234455	Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs193113294	chr5:100234462-100234463	Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs541020647	chr5:100234465-100234466	Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs185162080	chr5:100234517-100234518	Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs375033600	chr5:100234526-100234527	Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs573563854	chr5:100234540-100234541	Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs188845464	chr5:100234573-100234574	Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs559404901	chr5:100234580-100234581	Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs534301825	chr5:100234607-100234608	Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs181641776	chr5:100234620-100234621	Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs73777442	chr5:100234629-100234630	Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs185422670	chr5:100234640-100234641	Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs530612644	chr5:100234646-100234647	Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs148333049	chr5:100234740-100234741	Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs57408442	chr5:100234775-100234776	Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs529290877	chr5:100234776-100234777	Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs547732768	chr5:100234820-100234821	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs565917250	chr5:100234824-100234825	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs141733573	chr5:100234845-100234846	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs60673718	chr5:100234866-100234867	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs558486289	chr5:100234911-100234912	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs570302189	chr5:100235016-100235017	Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs374094043	chr5:100235034-100235035	Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs574429234	chr5:100235099-100235100	Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs542041824	chr5:100235114-100235115	Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs537601026	chr5:100235130-100235131	Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs72778635	chr5:100235221-100235222	Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs77119780	chr5:100235278-100235279	Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs534404842	chr5:100235283-100235284	Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs552961309	chr5:100235294-100235295	Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs188569448	chr5:100235336-100235337	Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs372802382	chr5:100235388-100235389	Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs150151467	chr5:100235436-100235437	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs180711122	chr5:100235535-100235536	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs186025838	chr5:100235563-100235564	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs17161136	chr5:100235569-100235570	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs542777086	chr5:100235662-100235663	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs562054200	chr5:100235695-100235696	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs115919493	chr5:100235699-100235700	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs547548339	chr5:100235736-100235737	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs559831794	chr5:100235738-100235739	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs533354201	chr5:100235739-100235740	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs552111449	chr5:100235742-100235743	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs138838036	chr5:100235774-100235775	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs192181112	chr5:100235806-100235807	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs549589147	chr5:100235807-100235808	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs567737045	chr5:100235826-100235827	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs183789442	chr5:100235836-100235837	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs552786490	chr5:100235843-100235844	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:779 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100208000-100235800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:100226400-100235600	Weak transcription	Placenta	Placenta
3	chr5:100227000-100235600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr5:100227200-100235600	Weak transcription	Fetal Lung	lung
5	chr5:100229200-100235400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr5:100230200-100235200	Enhancers	Primary T cells from cord blood	blood
7	chr5:100230800-100236400	Transcr. at gene 5' and 3'	Dnd41	blood
8	chr5:100231000-100235400	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr5:100231000-100235400	Weak transcription	HUVEC	blood vessel
10	chr5:100231200-100235400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr5:100231200-100235600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr5:100232000-100235600	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr5:100232200-100235400	Weak transcription	Fetal Thymus	thymus
14	chr5:100232400-100235000	Enhancers	Primary hematopoietic stem cells	blood
15	chr5:100232400-100235600	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr5:100232600-100245600	Active TSS	GM12878-XiMat	blood
17	chr5:100232800-100235000	Enhancers	Osteobl	bone
18	chr5:100233000-100235400	Weak transcription	Fetal Brain Female	brain
19	chr5:100233000-100235600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr5:100233000-100235600	Weak transcription	NHDF-Ad	bronchial
21	chr5:100233600-100235600	Enhancers	Adipose Nuclei	Adipose
22	chr5:100233800-100234600	Enhancers	Primary T cells fromperipheralblood	blood
23	chr5:100233800-100234600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr5:100233800-100234600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr5:100233800-100234800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr5:100233800-100235400	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr5:100233800-100235600	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr5:100234000-100235400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr5:100234000-100236200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr5:100234200-100234600	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr5:100234200-100234800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
32	chr5:100234200-100234800	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr5:100234200-100235200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr5:100234200-100235400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:100234200-100235400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr5:100234200-100235600	Genic enhancers	Primary B cells from peripheral blood	blood
37	chr5:100234200-100235600	Weak transcription	Fetal Muscle Leg	muscle
38	chr5:100234400-100234600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:100234400-100234600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr5:100234400-100234600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr5:100234400-100234600	Flanking Active TSS	Brain Germinal Matrix	brain
42	chr5:100234400-100234600	Enhancers	Right Atrium	heart
43	chr5:100234400-100234600	Enhancers	Small Intestine	intestine
44	chr5:100234400-100234600	Enhancers	Thymus	Thymus
45	chr5:100234400-100234600	Enhancers	Spleen	Spleen
46	chr5:100234400-100234600	Enhancers	HSMM	muscle
47	chr5:100234400-100235000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr5:100234400-100235000	Enhancers	Fetal Brain Male	brain
49	chr5:100234400-100236400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr5:100234600-100234800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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