Variant report

Variant	esv3340246
Chromosome Location	chr3:48956448-48960646
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:619)
CpG islands
(count:610)
Chromatin interactive
region (count:27)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:619 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr3:48955617-48956453	K562	blood:	n/a	n/a
2	ATF2	chr3:48955637-48956491	GM12878	blood:	n/a	n/a
3	ATF2	chr3:48956958-48957507	GM12878	blood:	n/a	n/a
4	ATF2	chr3:48955450-48956537	GM12878	blood:	n/a	n/a
5	BACH1	chr3:48956765-48956949	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr3:48957418-48957423	K562	blood:	n/a	n/a
7	BCL3	chr3:48956009-48956491	A549	lung:	n/a	n/a
8	BCLAF1	chr3:48957079-48957524	GM12878	blood:	n/a	n/a
9	BCLAF1	chr3:48955541-48957098	GM12878	blood:	n/a	chr3:48956860-48956873 chr3:48956720-48956729
10	BCLAF1	chr3:48955914-48956653	K562	blood:	n/a	n/a
11	BCLAF1	chr3:48955418-48956630	GM12878	blood:	n/a	n/a
12	BHLHE40	chr3:48957235-48957496	K562	blood:	n/a	n/a
13	BHLHE40	chr3:48955616-48956564	GM12878	blood:	n/a	n/a
14	BHLHE40	chr3:48955626-48956586	K562	blood:	n/a	n/a
15	BRCA1	chr3:48955610-48957469	Hela-S3	cervix:	n/a	n/a
16	CCNT2	chr3:48955721-48957013	K562	blood:	n/a	n/a
17	CCNT2	chr3:48958070-48958148	K562	blood:	n/a	n/a
18	CEBPB	chr3:48956006-48956477	ECC-1	luminal epithelium:	n/a	n/a
19	CEBPB	chr3:48956081-48956467	ECC-1	luminal epithelium:	n/a	n/a
20	CEBPB	chr3:48955989-48956466	HepG2	liver:	n/a	n/a
21	CEBPB	chr3:48955443-48956452	K562	blood:	n/a	n/a
22	CEBPB	chr3:48956054-48956499	MCF-7	breast:	n/a	n/a
23	CEBPB	chr3:48955970-48956541	A549	lung:	n/a	n/a
24	CEBPB	chr3:48956087-48956452	K562	blood:	n/a	n/a
25	CEBPB	chr3:48956961-48957623	GM12878	blood:	n/a	n/a
26	CEBPB	chr3:48955439-48956619	Hela-S3	cervix:	n/a	n/a
27	CEBPD	chr3:48955908-48956475	HepG2	liver:	n/a	n/a
28	CHD1	chr3:48955533-48957765	IMR90	lung:	n/a	n/a
29	CHD1	chr3:48956816-48957387	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD1	chr3:48955614-48957406	GM12878	blood:	n/a	n/a
31	CHD2	chr3:48955710-48956500	H1-hESC	embryonic stem cell:	n/a	n/a
32	CHD2	chr3:48956779-48957034	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD2	chr3:48956625-48956694	HepG2	liver:	n/a	n/a
34	CHD2	chr3:48955599-48956770	GM12878	blood:	n/a	n/a
35	CHD2	chr3:48955684-48956913	Hela-S3	cervix:	n/a	n/a
36	CREB1	chr3:48955593-48956839	HepG2	liver:	n/a	n/a
37	CREB1	chr3:48955882-48956528	ECC-1	luminal epithelium:	n/a	n/a
38	CREB1	chr3:48955755-48956605	H1-hESC	embryonic stem cell:	n/a	n/a
39	CREB1	chr3:48955930-48956620	A549	lung:	n/a	n/a
40	CREB1	chr3:48955966-48956705	K562	blood:	n/a	n/a
41	CREB1	chr3:48955949-48956540	ECC-1	luminal epithelium:	n/a	n/a
42	CREB1	chr3:48955947-48956499	H1-hESC	embryonic stem cell:	n/a	n/a
43	CREB1	chr3:48955821-48956624	HepG2	liver:	n/a	n/a
44	CREB1	chr3:48955624-48956591	K562	blood:	n/a	n/a
45	CREB1	chr3:48955550-48956726	GM12878	blood:	n/a	n/a
46	CTCF	chr3:48956380-48956530	GM12869	blood:	n/a	n/a
47	CTCF	chr3:48956397-48956541	GM13976	blood:	n/a	n/a
48	CTCF	chr3:48957433-48957493	Lung_OC	lung:	n/a	n/a
49	CTCF	chr3:48957040-48957190	HPF	lung:	n/a	n/a
50	CTCF	chr3:48956380-48956530	HMEC	breast:	n/a	n/a

(count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:48956935-48956985	GM19239	blood:	n/a
2	chr3:48957246-48957296	SK-N-MC	brain:	n/a
3	chr3:48956937-48956987	GM12878	blood:	n/a
4	chr3:48956935-48956985	PrEC	prostate:	n/a
5	chr3:48957559-48957609	K562	blood:	n/a
6	chr3:48956935-48956985	GM12878	blood:	n/a
7	chr3:48957246-48957296	AG09319	gingival:	n/a
8	chr3:48959375-48959425	LNCaP	prostate:	n/a
9	chr3:48957559-48957609	BJ	skin:	n/a
10	chr3:48956740-48956790	K562	blood:	n/a
11	chr3:48957049-48957099	NHBE	bronchial:	n/a
12	chr3:48959375-48959425	Hepatocyte	liver:	n/a
13	chr3:48959341-48959391	PFSK-1	brain:	n/a
14	chr3:48956937-48956987	HRCEpiC	kidney:	n/a
15	chr3:48956740-48956790	HCPEpiC	choroid plexus:	n/a
16	chr3:48957001-48957051	Jurkat	blood:	n/a
17	chr3:48956913-48956963	SK-N-SH	brain:	n/a
18	chr3:48957246-48957296	NHBE	bronchial:	n/a
19	chr3:48957246-48957296	AG04450	lung:	fetal
20	chr3:48959375-48959425	HCT-116	colon:	n/a
21	chr3:48957559-48957609	HCT-116	colon:	n/a
22	chr3:48957049-48957099	HCM	heart:	n/a
23	chr3:48956935-48956985	SK-N-MC	brain:	n/a
24	chr3:48956935-48956985	HNPCEpiC	eye:	n/a
25	chr3:48956913-48956963	Caco-2	colon:	n/a
26	chr3:48959375-48959425	ovcar-3	ovarian:	n/a
27	chr3:48956935-48956985	HUVEC	blood vessel:	n/a
28	chr3:48959341-48959391	AG09319	gingival:	n/a
29	chr3:48956740-48956790	HCM	heart:	n/a
30	chr3:48957001-48957051	AG09319	gingival:	n/a
31	chr3:48956740-48956790	HEEpiC	esophagus:	n/a
32	chr3:48956935-48956985	HRE	kidney:	n/a
33	chr3:48957559-48957609	HUVEC	blood vessel:	n/a
34	chr3:48957246-48957296	PANC-1	pancreas:	n/a
35	chr3:48956740-48956790	T-47D	breast:	n/a
36	chr3:48956935-48956985	Jurkat	blood:	n/a
37	chr3:48957049-48957099	U87	brain:	n/a
38	chr3:48959341-48959391	GM12878	blood:	n/a
39	chr3:48956740-48956790	HPAEpiC	pulmonary alveolar:	n/a
40	chr3:48959375-48959425	T-47D	breast:	n/a
41	chr3:48956937-48956987	AG10803	skin:	n/a
42	chr3:48957049-48957099	SK-N-MC	brain:	n/a
43	chr3:48957559-48957609	NH-A	brain:	n/a
44	chr3:48957001-48957051	SAEC	small airway:	n/a
45	chr3:48957246-48957296	AoSMC	blood vessel:	n/a
46	chr3:48959375-48959425	HPAEpiC	pulmonary alveolar:	n/a
47	chr3:48957049-48957099	NT2-D1	testis:	n/a
48	chr3:48956913-48956963	SK-N-MC	brain:	n/a
49	chr3:48957049-48957099	SK-N-SH_RA	brain:	n/a
50	chr3:48959375-48959425	Caco-2	colon:	n/a

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:48956092..48958804-chr3:49057398..49059224,2	K562	blood:
2	chr3:48777544..48781186-chr3:48954650..48958375,5	K562	blood:
3	chr3:48956190..48958160-chr3:48963848..48966266,2	MCF-7	breast:
4	chr3:48956178..48958930-chr3:48964681..48967359,2	MCF-7	breast:
5	chr3:48722838..48724823-chr3:48955919..48958463,2	K562	blood:
6	chr3:48955220..48957658-chr3:48960315..48963071,3	MCF-7	breast:
7	chr3:48955694..48958185-chr3:49021057..49023573,2	K562	blood:
8	chr10:1034212..1034872-chr3:48956219..48957108,3	Hela-S3	cervix:
9	chr3:48752504..48754863-chr3:48957920..48960085,2	K562	blood:
10	chr3:48934472..48936493-chr3:48955282..48957052,2	MCF-7	breast:
11	chr3:48831351..48833653-chr3:48957027..48958695,2	MCF-7	breast:
12	chr3:48777662..48781214-chr3:48954479..48957215,3	K562	blood:
13	chr3:48955974..48957797-chr3:49448912..49450941,2	K562	blood:
14	chr3:48882526..48887589-chr3:48952932..48958567,11	K562	blood:
15	chr17:8198552..8199210-chr3:48956061..48956666,2	HCT-116	colon:
16	chr19:2051176..2051694-chr3:48956146..48956931,2	Hela-S3	cervix:
17	chr3:48700863..48702620-chr3:48955867..48958209,2	K562	blood:
18	chr3:48753119..48755656-chr3:48955067..48957607,2	MCF-7	breast:
19	chr3:48955220..48957658-chr3:48960315..48963071,3	MCF-7	breast:
20	chr3:48954426..48959569-chr3:49057203..49060067,5	K562	blood:
21	chr19:36544745..36545679-chr3:48956268..48957255,2	Hela-S3	cervix:
22	chr16:685835..686394-chr3:48956427..48956935,2	Hela-S3	cervix:
23	chr3:48882526..48886164-chr3:48952991..48958735,8	K562	blood:
24	chr3:48933374..48937590-chr3:48954193..48958596,7	K562	blood:
25	chr3:48954616..48957728-chr3:49043769..49045935,3	K562	blood:
26	chr3:48700103..48702620-chr3:48955233..48957367,3	K562	blood:
27	chr3:48883728..48886453-chr3:48954781..48956546,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARIH2-2	chr3:48960181-48960244	NONHSAT089615

No data

Variant related genes	Relation type
ARIH2OS	TF binding region
ARIH2	TF binding region
ARIH2OS	CpG island
ARIH2	CpG island
ENSG00000228350	chromatin interactions
ENSG00000221883	chromatin interactions
ENSG00000068745	chromatin interactions
ENSG00000067560	chromatin interactions
ENSG00000178537	chromatin interactions
ENSG00000205740	chromatin interactions
ENSG00000099875	chromatin interactions
ENSG00000161277	chromatin interactions
ENSG00000178252	chromatin interactions
ENSG00000178057	chromatin interactions
ENSG00000273211	chromatin interactions
ENSG00000008300	chromatin interactions
ENSG00000125434	chromatin interactions
ENSG00000224424	chromatin interactions
ENSG00000213672	chromatin interactions
ENSG00000145022	chromatin interactions
ENSG00000199032	chromatin interactions
ENSG00000207605	chromatin interactions
ENSG00000178149	chromatin interactions
ENSG00000177479	chromatin interactions
ENSG00000130731	chromatin interactions
ENSG00000235236	chromatin interactions
ENSG00000107937	chromatin interactions
ENSG00000114302	chromatin interactions

Extended variants
information (count: 117 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548743370	chr3:48956498-48956499	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
2	rs542334811	chr3:48956530-48956531	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
3	rs373018609	chr3:48956534-48956535	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
4	rs570126354	chr3:48956535-48956536	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
5	rs537647405	chr3:48956566-48956567	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
6	rs181008139	chr3:48956588-48956589	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
7	rs376732059	chr3:48956622-48956623	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
8	rs184469819	chr3:48956670-48956671	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
9	rs553609068	chr3:48956684-48956685	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
10	rs574396724	chr3:48956716-48956717	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
11	rs541384072	chr3:48956759-48956760	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
12	rs563045525	chr3:48956801-48956802	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
13	rs574964949	chr3:48956806-48956807	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
14	rs545606954	chr3:48956829-48956830	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
15	rs564159193	chr3:48956846-48956847	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
16	rs9884022	chr3:48956862-48956863	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	24 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs546622347	chr3:48956892-48956893	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
18	rs562009477	chr3:48956972-48956973	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
19	rs377253358	chr3:48956974-48956975	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
20	rs530128968	chr3:48956982-48956983	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
21	rs548558798	chr3:48957014-48957015	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
22	rs570186750	chr3:48957016-48957017	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
23	rs138410831	chr3:48957099-48957100	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
24	rs552690726	chr3:48957144-48957145	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
25	rs9850134	chr3:48957147-48957148	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs535218295	chr3:48957185-48957186	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
27	rs553400040	chr3:48957290-48957291	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
28	rs575029417	chr3:48957339-48957340	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
29	rs535100963	chr3:48957376-48957377	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
30	rs199559128	chr3:48957402-48957403	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
31	rs190406723	chr3:48957473-48957474	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
32	rs560156486	chr3:48957509-48957510	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
33	rs201644448	chr3:48957519-48957520	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
34	rs574876379	chr3:48957533-48957534	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
35	rs545519278	chr3:48957541-48957542	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
36	rs369182879	chr3:48957559-48957560	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
37	rs182231038	chr3:48957565-48957566	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
38	rs540385334	chr3:48957588-48957589	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
39	rs561840547	chr3:48957603-48957604	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
40	rs186817512	chr3:48957640-48957641	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
41	rs376171164	chr3:48957659-48957660	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
42	rs202029966	chr3:48957661-48957662	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
43	rs572573667	chr3:48957680-48957681	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
44	rs542262232	chr3:48957723-48957724	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
45	rs9637481	chr3:48957814-48957815	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs113356851	chr3:48957843-48957844	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
47	rs563708938	chr3:48957862-48957863	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
48	rs11706805	chr3:48957907-48957908	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
49	rs13064272	chr3:48957917-48957918	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
50	rs546087134	chr3:48958023-48958024	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute myeloid leukemia	17268525	CNVD
Salivary gland tumor	18059337	CNVD
Gastric cancer	16891809	CNVD
Night blindness	17160897	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Lung cancer	17297452	CNVD
Multiple myeloma	16616336	CNVD
Effusion lymphoma	18079361	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medullary thyroid carcinoma	18765511	CNVD
abnormal development	18461090	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48954800-48957200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:48954800-48957200	Active TSS	Rectal Smooth Muscle	rectum
3	chr3:48954800-48957800	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr3:48955000-48957000	Active TSS	Primary T cells from cord blood	blood
5	chr3:48955000-48957600	Active TSS	Fetal Brain Female	brain
6	chr3:48955000-48957600	Active TSS	HSMM	muscle
7	chr3:48955200-48957000	Active TSS	Duodenum Mucosa	Duodenum
8	chr3:48955200-48957200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:48955200-48957200	Active TSS	Brain Cingulate Gyrus	brain
10	chr3:48955200-48957600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr3:48955200-48957600	Active TSS	Fetal Intestine Small	intestine
12	chr3:48955200-48957600	Active TSS	Hela-S3	cervix
13	chr3:48955200-48957800	Active TSS	Colonic Mucosa	Colon
14	chr3:48955200-48957800	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr3:48955200-48957800	Active TSS	Rectal Mucosa Donor 31	rectum
16	chr3:48955200-48958200	Active TSS	GM12878-XiMat	blood
17	chr3:48955200-48958200	Active TSS	K562	blood
18	chr3:48955400-48957000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr3:48955400-48957000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr3:48955400-48957200	Active TSS	H1 Cell Line	embryonic stem cell
21	chr3:48955400-48957200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr3:48955400-48957200	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr3:48955400-48957200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr3:48955400-48957200	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr3:48955400-48957200	Active TSS	Brain Angular Gyrus	brain
26	chr3:48955400-48957200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr3:48955400-48957200	Active TSS	Brain Substantia Nigra	brain
28	chr3:48955400-48957200	Active TSS	Fetal Kidney	kidney
29	chr3:48955400-48957200	Active TSS	Fetal Stomach	stomach
30	chr3:48955400-48957200	Active TSS	Thymus	Thymus
31	chr3:48955400-48957400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr3:48955400-48957400	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr3:48955400-48957400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr3:48955400-48957400	Active TSS	Colon Smooth Muscle	Colon
35	chr3:48955400-48957400	Active TSS	Esophagus	oesophagus
36	chr3:48955400-48957400	Active TSS	Left Ventricle	heart
37	chr3:48955400-48957600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr3:48955400-48957600	Active TSS	Pancreas	Pancrea
39	chr3:48955400-48957600	Active TSS	HSMMtube	muscle
40	chr3:48955400-48957800	Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr3:48955400-48957800	Active TSS	H9 Cell Line	embryonic stem cell
42	chr3:48955400-48957800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr3:48955400-48957800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr3:48955400-48957800	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr3:48955400-48957800	Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr3:48955400-48957800	Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr3:48955400-48957800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr3:48955400-48957800	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr3:48955400-48957800	Active TSS	Psoas Muscle	Psoas
50	chr3:48955400-48957800	Active TSS	Right Atrium	heart

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