Variant report

Variant	esv3422403
Chromosome Location	chr8:48649224-48651772
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:904)
CpG islands
(count:671)
Chromatin interactive
region (count:52)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:904 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:48651502-48651743	HepG2	liver:	n/a	n/a
2	ATF3	chr8:48650381-48650785	A549	lung:	n/a	chr8:48650775-48650784 chr8:48650763-48650783
3	BACH1	chr8:48651110-48651666	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr8:48649827-48650099	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr8:48650988-48651213	GM12878	blood:	n/a	n/a
6	BHLHE40	chr8:48651445-48651785	GM12878	blood:	n/a	chr8:48651588-48651604
7	BHLHE40	chr8:48651540-48651740	K562	blood:	n/a	chr8:48651588-48651604
8	BHLHE40	chr8:48651101-48651263	K562	blood:	n/a	n/a
9	BRCA1	chr8:48651534-48651831	Hela-S3	cervix:	n/a	n/a
10	BRCA1	chr8:48651371-48651395	GM12878	blood:	n/a	n/a
11	BRCA1	chr8:48651625-48651701	GM12878	blood:	n/a	n/a
12	BRCA1	chr8:48651482-48651879	H1-hESC	embryonic stem cell:	n/a	n/a
13	BRCA1	chr8:48649229-48649992	Hela-S3	cervix:	n/a	n/a
14	CBX3	chr8:48651428-48651796	K562	blood:	n/a	chr8:48651685-48651696
15	CCNT2	chr8:48649295-48651679	K562	blood:	n/a	chr8:48651557-48651566 chr8:48649336-48649345
16	CEBPB	chr8:48651491-48651811	H1-hESC	embryonic stem cell:	n/a	n/a
17	CEBPB	chr8:48651486-48651810	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr8:48650156-48651201	Hela-S3	cervix:	n/a	n/a
19	CEBPD	chr8:48650609-48650844	HepG2	liver:	n/a	n/a
20	CEBPD	chr8:48650511-48651094	HepG2	liver:	n/a	n/a
21	CHD1	chr8:48650984-48651104	GM12878	blood:	n/a	n/a
22	CHD1	chr8:48651547-48651784	GM12878	blood:	n/a	n/a
23	CHD1	chr8:48651413-48651731	H1-hESC	embryonic stem cell:	n/a	n/a
24	CHD1	chr8:48646180-48652097	IMR90	lung:	n/a	chr8:48649081-48649091 chr8:48650773-48650783 chr8:48651231-48651241
25	CHD1	chr8:48649611-48650051	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD2	chr8:48651480-48651745	HepG2	liver:	n/a	n/a
27	CHD2	chr8:48649899-48650145	GM12878	blood:	n/a	n/a
28	CHD2	chr8:48648798-48651748	Hela-S3	cervix:	n/a	chr8:48649081-48649091 chr8:48650773-48650783 chr8:48651231-48651241
29	CHD2	chr8:48649781-48650105	K562	blood:	n/a	n/a
30	CHD2	chr8:48651392-48651769	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD2	chr8:48649896-48650135	HepG2	liver:	n/a	n/a
32	CHD2	chr8:48651481-48651666	GM12878	blood:	n/a	n/a
33	CHD2	chr8:48650399-48650593	HepG2	liver:	n/a	n/a
34	CREB1	chr8:48649707-48651205	A549	lung:	n/a	n/a
35	CREB1	chr8:48650543-48650961	ECC-1	luminal epithelium:	n/a	n/a
36	CREB1	chr8:48650602-48650807	A549	lung:	n/a	n/a
37	CREB1	chr8:48648977-48649486	A549	lung:	n/a	n/a
38	CREB1	chr8:48649617-48651871	HepG2	liver:	n/a	n/a
39	CTBP2	chr8:48649709-48651907	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr8:48651560-48651710	GM12874	blood:	n/a	chr8:48651621-48651642 chr8:48651626-48651644
41	CTCF	chr8:48651580-48651730	HEK293	kidney:	n/a	chr8:48651621-48651642 chr8:48651626-48651644
42	CTCF	chr8:48651540-48651690	HRE	kidney:	n/a	chr8:48651621-48651642 chr8:48651626-48651644
43	CTCF	chr8:48649961-48650076	Fibrobl	skin:	n/a	n/a
44	CTCF	chr8:48649997-48650048	GM12878	blood:	n/a	n/a
45	CTCF	chr8:48649360-48649510	GM12874	blood:	n/a	chr8:48649427-48649440 chr8:48649430-48649443 chr8:48649430-48649443
46	CTCF	chr8:48651580-48651730	GM12872	blood:	n/a	chr8:48651621-48651642 chr8:48651626-48651644
47	CTCF	chr8:48650001-48650052	GM19240	blood:	n/a	n/a
48	CTCF	chr8:48650020-48650170	GM12875	blood:	n/a	n/a
49	CTCF	chr8:48649500-48649650	NHLF	lung:	n/a	n/a
50	CTCF	chr8:48651580-48651730	HBMEC	blood vessel:	n/a	chr8:48651621-48651642 chr8:48651626-48651644

(count:671 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:48650511-48650561	ovcar-3	ovarian:	n/a
2	chr8:48651311-48651361	IMR90	lung:	fetal
3	chr8:48650705-48650755	HCM	heart:	n/a
4	chr8:48650705-48650755	ovcar-3	ovarian:	n/a
5	chr8:48651311-48651361	GM12892	blood:	n/a
6	chr8:48651635-48651685	MCF-7	breast:	n/a
7	chr8:48651311-48651361	Jurkat	blood:	n/a
8	chr8:48651122-48651172	HUVEC	blood vessel:	n/a
9	chr8:48649457-48649507	AG04449	skin:	fetal
10	chr8:48650705-48650755	GM19239	blood:	n/a
11	chr8:48651122-48651172	ovcar-3	ovarian:	n/a
12	chr8:48651311-48651361	HMEC	breast:	n/a
13	chr8:48650989-48651039	AG04450	lung:	fetal
14	chr8:48651311-48651361	AoSMC	blood vessel:	n/a
15	chr8:48650511-48650561	GM19239	blood:	n/a
16	chr8:48651635-48651685	AG04450	lung:	fetal
17	chr8:48650727-48650777	SKMC	muscle:	n/a
18	chr8:48651122-48651172	HCT-116	colon:	n/a
19	chr8:48650989-48651039	GM12892	blood:	n/a
20	chr8:48651311-48651361	HRCEpiC	kidney:	n/a
21	chr8:48650511-48650561	NHBE	bronchial:	n/a
22	chr8:48651635-48651685	A549	lung:	n/a
23	chr8:48650511-48650561	SK-N-SH_RA	brain:	n/a
24	chr8:48650745-48650795	U87	brain:	n/a
25	chr8:48650727-48650777	CMK	blood:	n/a
26	chr8:48649326-48649376	HRE	kidney:	n/a
27	chr8:48650511-48650561	HEEpiC	esophagus:	n/a
28	chr8:48650745-48650795	HL-60	blood:	n/a
29	chr8:48650745-48650795	HNPCEpiC	eye:	n/a
30	chr8:48650727-48650777	T-47D	breast:	n/a
31	chr8:48650727-48650777	AG09309	skin:	n/a
32	chr8:48650705-48650755	PrEC	prostate:	n/a
33	chr8:48651122-48651172	AG04450	lung:	fetal
34	chr8:48649457-48649507	HRPEpiC	eye:	n/a
35	chr8:48650705-48650755	K562	blood:	n/a
36	chr8:48651311-48651361	AG04450	lung:	fetal
37	chr8:48649457-48649507	PrEC	prostate:	n/a
38	chr8:48650745-48650795	Jurkat	blood:	n/a
39	chr8:48649767-48649817	AG09309	skin:	n/a
40	chr8:48649457-48649507	HL-60	blood:	n/a
41	chr8:48649767-48649817	K562	blood:	n/a
42	chr8:48650511-48650561	ECC-1	luminal epithelium:	n/a
43	chr8:48649767-48649817	Hela-S3	cervix:	n/a
44	chr8:48650989-48651039	HMEC	breast:	n/a
45	chr8:48649457-48649507	T-47D	breast:	n/a
46	chr8:48650989-48651039	SK-N-SH	brain:	n/a
47	chr8:48649326-48649376	BE2_C	brain:	n/a
48	chr8:48651635-48651685	HNPCEpiC	eye:	n/a
49	chr8:48650745-48650795	NB4	blood:	n/a
50	chr8:48650511-48650561	U87	brain:	n/a

(count:52 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr8:48521758..48524505-chr8:48647961..48649849,2	MCF-7	breast:
2	chr8:48627320..48629961-chr8:48647561..48650281,2	MCF-7	breast:
3	chr8:48112895..48115020-chr8:48649456..48652185,2	K562	blood:
4	chr8:48185030..48187029-chr8:48646598..48649243,2	K562	blood:
5	chr8:48300186..48303081-chr8:48648494..48650857,2	MCF-7	breast:
6	chr8:48435225..48441849-chr8:48646333..48652657,17	MCF-7	breast:
7	chr8:48114400..48115004-chr8:48651136..48652107,2	MCF-7	breast:
8	chr8:48222564..48225151-chr8:48648619..48650407,2	MCF-7	breast:
9	chr8:48282165..48284345-chr8:48648892..48650703,2	MCF-7	breast:
10	chr8:48171892..48175366-chr8:48649107..48652421,3	K562	blood:
11	chr8:48565250..48566861-chr8:48648716..48650619,2	MCF-7	breast:
12	chr8:48516911..48521430-chr8:48646759..48650653,4	K562	blood:
13	chr8:48571104..48575817-chr8:48648052..48653139,6	K562	blood:
14	chr8:48432437..48435065-chr8:48648132..48650719,4	MCF-7	breast:
15	chr8:48284342..48286022-chr8:48648925..48651105,2	MCF-7	breast:
16	chr8:48575452..48577775-chr8:48649068..48651275,2	K562	blood:
17	chr8:48611140..48612961-chr8:48649084..48651075,2	MCF-7	breast:
18	chr8:48178486..48180700-chr8:48649233..48651294,2	K562	blood:
19	chr1:15480099..15480642-chr8:48649039..48649758,2	Hela-S3	cervix:
20	chr8:48518004..48520090-chr8:48648537..48650198,2	K562	blood:
21	chr8:48431409..48434183-chr8:48649405..48651632,3	K562	blood:
22	chr8:48616670..48620929-chr8:48647842..48650845,3	MCF-7	breast:
23	chr8:48648988..48650565-chr8:48654492..48656247,2	K562	blood:
24	chr8:48635174..48641893-chr8:48648550..48652485,8	MCF-7	breast:
25	chr8:48171500..48174751-chr8:48648690..48652421,4	K562	blood:
26	chr8:48113591..48116230-chr8:48649014..48651468,2	MCF-7	breast:
27	chr8:48516477..48519191-chr8:48648055..48649779,2	MCF-7	breast:
28	chr8:48573288..48575298-chr8:48647992..48650663,2	MCF-7	breast:
29	chr8:48293039..48294618-chr8:48649399..48651169,2	MCF-7	breast:
30	chr8:48417772..48429044-chr8:48646094..48652486,42	MCF-7	breast:
31	chr8:48586047..48588334-chr8:48649128..48651516,2	MCF-7	breast:
32	chr8:48218179..48220522-chr8:48649833..48651549,2	MCF-7	breast:
33	chr14:38061973..38064113-chr8:48650908..48653008,2	MCF-7	breast:
34	chr8:48456575..48460862-chr8:48649112..48652176,5	MCF-7	breast:
35	chr11:66390889..66393382-chr8:48648876..48650745,2	MCF-7	breast:
36	chr8:48571020..48572523-chr8:48650365..48652333,2	MCF-7	breast:
37	chr8:48580254..48581867-chr8:48649171..48651627,2	MCF-7	breast:
38	chr8:48077834..48080111-chr8:48648682..48651633,2	MCF-7	breast:
39	chr19:10362571..10363085-chr8:48650526..48651032,2	NB4	blood:
40	chr8:48416787..48427648-chr8:48644938..48653304,27	MCF-7	breast:
41	chr3:63849357..63850128-chr8:48650428..48651007,2	MCF-7	breast:
42	chr8:48173494..48174253-chr8:48651177..48651793,2	MCF-7	breast:
43	chr8:48078161..48080655-chr8:48649461..48651455,2	MCF-7	breast:
44	chr8:48170516..48173662-chr8:48648596..48652534,4	MCF-7	breast:
45	chr8:48353630..48357760-chr8:48647568..48650478,4	MCF-7	breast:
46	chr19:40476362..40476867-chr8:48650522..48651379,2	Hela-S3	cervix:
47	chr8:48433892..48441630-chr8:48644198..48652247,18	MCF-7	breast:
48	chr8:48649410..48651564-chr8:48691091..48693098,2	MCF-7	breast:
49	chr8:48114948..48116858-chr8:48648714..48650275,2	K562	blood:
50	chr8:48648550..48651085-chr8:48656701..48659143,2	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	CEBPD	hsa-miR-98-5p	chr8:48649834-48649828

Variant related genes	Relation type
CEBPD	TF binding region
CEBPD	CpG island
ENSG00000253330	chromatin interactions
ENSG00000105364	chromatin interactions
ENSG00000171729	chromatin interactions
ENSG00000251354	chromatin interactions
ENSG00000164808	chromatin interactions
ENSG00000253729	chromatin interactions
ENSG00000163634	chromatin interactions
ENSG00000207369	chromatin interactions
ENSG00000269924	chromatin interactions
ENSG00000129514	chromatin interactions
ENSG00000215177	chromatin interactions

Extended variants
information (count: 84 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369486030	chr8:48649227-48649228	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs146269923	chr8:48649310-48649311	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs373252686	chr8:48649336-48649337	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs556805950	chr8:48649340-48649341	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs571894076	chr8:48649341-48649342	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs557851357	chr8:48649342-48649343	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs575980267	chr8:48649343-48649344	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs566456096	chr8:48649347-48649348	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs145014264	chr8:48649348-48649349	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs562232898	chr8:48649349-48649350	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs574319037	chr8:48649385-48649386	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs199903136	chr8:48649386-48649387	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs559865505	chr8:48649415-48649416	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs34093480	chr8:48649458-48649459	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs113665053	chr8:48649474-48649475	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs533589870	chr8:48649515-48649516	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs552256601	chr8:48649580-48649581	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs564181221	chr8:48649591-48649592	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs537591543	chr8:48649617-48649618	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs187895598	chr8:48649622-48649623	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs549795482	chr8:48649625-48649626	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs568242672	chr8:48649632-48649633	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs11539253	chr8:48649634-48649635	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs370373992	chr8:48649678-48649679	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs565837615	chr8:48649709-48649710	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs539250888	chr8:48649710-48649711	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs557787911	chr8:48649735-48649736	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs576166478	chr8:48649823-48649824	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs374190201	chr8:48649824-48649825	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs376742290	chr8:48649870-48649871	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs397844047	chr8:48649893-48649894	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs15955	chr8:48649894-48649895	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs537387769	chr8:48649923-48649924	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs34948549	chr8:48649941-48649942	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs111429750	chr8:48649972-48649973	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs372603656	chr8:48649976-48649977	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs201727306	chr8:48649981-48649982	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs11539255	chr8:48650011-48650012	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs11539254	chr8:48650033-48650034	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs371024952	chr8:48650064-48650065	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs111900648	chr8:48650065-48650066	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs35029833	chr8:48650071-48650072	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs541685864	chr8:48650076-48650077	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs370948191	chr8:48650137-48650138	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs200641900	chr8:48650153-48650154	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs578188520	chr8:48650165-48650166	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs545658644	chr8:48650195-48650196	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs376067725	chr8:48650242-48650243	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs531462162	chr8:48650298-48650299	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs549496037	chr8:48650337-48650338	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	17142309	CNVD
22q11 deletion syndrome	20357662	CNVD
Autism	20531469	CNVD

Chromatin state (count:281 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48618200-48651200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr8:48637800-48649600	Weak transcription	Dnd41	blood
3	chr8:48639600-48651000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr8:48646200-48649400	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
5	chr8:48646800-48650200	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr8:48647000-48650000	Transcr. at gene 5' and 3'	Fetal Lung	lung
7	chr8:48647200-48650400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr8:48647200-48651600	Active TSS	Aorta	Aorta
9	chr8:48647200-48651600	Active TSS	Brain Substantia Nigra	brain
10	chr8:48647200-48651800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr8:48647200-48652000	Active TSS	Liver	Liver
12	chr8:48647400-48651600	Active TSS	Pancreas	Pancrea
13	chr8:48647400-48651800	Active TSS	Esophagus	oesophagus
14	chr8:48647400-48651800	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr8:48647400-48651800	Active TSS	Left Ventricle	heart
16	chr8:48647400-48651800	Active TSS	Lung	lung
17	chr8:48647400-48651800	Active TSS	Ovary	ovary
18	chr8:48647400-48652000	Active TSS	Psoas Muscle	Psoas
19	chr8:48647400-48652000	Active TSS	Right Ventricle	heart
20	chr8:48647600-48649400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:48647600-48650000	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:48647600-48651800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr8:48647600-48651800	Active TSS	Fetal Intestine Small	intestine
24	chr8:48647600-48651800	Active TSS	Right Atrium	heart
25	chr8:48647800-48651400	Active TSS	Brain Angular Gyrus	brain
26	chr8:48647800-48651600	Active TSS	Fetal Intestine Large	intestine
27	chr8:48647800-48651600	Active TSS	Gastric	stomach
28	chr8:48647800-48651600	Active TSS	Placenta Amnion	Placenta Amnion
29	chr8:48647800-48651600	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr8:48647800-48651600	Active TSS	Stomach Mucosa	stomach
31	chr8:48647800-48651600	Bivalent/Poised TSS	Thymus	Thymus
32	chr8:48647800-48651800	Active TSS	Brain Cingulate Gyrus	brain
33	chr8:48647800-48651800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr8:48647800-48651800	Active TSS	Colonic Mucosa	Colon
35	chr8:48647800-48651800	Active TSS	Fetal Kidney	kidney
36	chr8:48647800-48651800	Active TSS	Fetal Stomach	stomach
37	chr8:48647800-48651800	Active TSS	Sigmoid Colon	Sigmoid Colon
38	chr8:48647800-48651800	Active TSS	HSMM	muscle
39	chr8:48647800-48652000	Active TSS	HMEC	breast
40	chr8:48647800-48652000	Active TSS	NHDF-Ad	bronchial
41	chr8:48648000-48650800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
42	chr8:48648000-48651600	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr8:48648000-48651600	Active TSS	Duodenum Mucosa	Duodenum
44	chr8:48648000-48651600	Active TSS	Fetal Muscle Leg	muscle
45	chr8:48648000-48651600	Active TSS	Placenta	Placenta
46	chr8:48648000-48651600	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr8:48648000-48651800	Active TSS	Brain Anterior Caudate	brain
48	chr8:48648000-48651800	Active TSS	Fetal Muscle Trunk	muscle
49	chr8:48648000-48652000	Active TSS	Adipose Nuclei	Adipose
50	chr8:48648000-48652000	Active TSS	Skeletal Muscle Male	skeletal muscle

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Variant report

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