Variant report

Variant	esv3402251
Chromosome Location	chr4:1282477-1285325
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:601)
CpG islands
(count:671)
Chromatin interactive
region (count:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:601 , 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	ARID3A	chr4:1283542-1283707	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:1284252-1284452	K562	blood:	n/a	n/a
3	ARID3A	chr4:1283360-1283638	K562	blood:	n/a	n/a
4	ATF1	chr4:1283164-1283813	K562	blood:	n/a	n/a
5	ATF2	chr4:1283376-1283779	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr4:1283203-1283896	GM12878	blood:	n/a	n/a
7	ATF2	chr4:1283345-1283836	GM12878	blood:	n/a	n/a
8	BCLAF1	chr4:1283222-1283951	GM12878	blood:	n/a	chr4:1283617-1283630
9	BHLHE40	chr4:1283316-1283804	K562	blood:	n/a	chr4:1283387-1283403 chr4:1283617-1283633 chr4:1283380-1283396 chr4:1283440-1283456
10	BHLHE40	chr4:1283271-1283879	GM12878	blood:	n/a	chr4:1283387-1283403 chr4:1283617-1283633 chr4:1283380-1283396 chr4:1283440-1283456
11	BRCA1	chr4:1283684-1283759	GM12878	blood:	n/a	n/a
12	BRCA1	chr4:1283238-1283366	GM12878	blood:	n/a	n/a
13	BRCA1	chr4:1283314-1283769	Hela-S3	cervix:	n/a	n/a
14	BRCA1	chr4:1283523-1283723	H1-hESC	embryonic stem cell:	n/a	n/a
15	BRCA1	chr4:1283401-1283678	HepG2	liver:	n/a	n/a
16	CBX3	chr4:1282998-1283828	K562	blood:	n/a	n/a
17	CCNT2	chr4:1283222-1284181	K562	blood:	n/a	chr4:1284055-1284064
18	CEBPB	chr4:1283473-1283786	IMR90	lung:	n/a	chr4:1283509-1283517
19	CEBPB	chr4:1283449-1283790	Hela-S3	cervix:	n/a	chr4:1283509-1283517
20	CEBPB	chr4:1284240-1284361	K562	blood:	n/a	n/a
21	CEBPB	chr4:1283491-1283769	K562	blood:	n/a	chr4:1283509-1283517
22	CEBPB	chr4:1283501-1283731	A549	lung:	n/a	chr4:1283509-1283517
23	CEBPB	chr4:1283487-1283783	HepG2	liver:	n/a	chr4:1283509-1283517
24	CEBPB	chr4:1283523-1283697	H1-hESC	embryonic stem cell:	n/a	n/a
25	CEBPD	chr4:1283536-1283849	HepG2	liver:	n/a	n/a
26	CHD1	chr4:1283972-1284105	H1-hESC	embryonic stem cell:	n/a	n/a
27	CHD1	chr4:1283013-1284639	GM12878	blood:	n/a	chr4:1283413-1283423 chr4:1283602-1283612
28	CHD1	chr4:1282942-1283397	H1-hESC	embryonic stem cell:	n/a	n/a
29	CHD2	chr4:1285103-1285208	K562	blood:	n/a	n/a
30	CHD2	chr4:1284360-1284428	K562	blood:	n/a	n/a
31	CHD2	chr4:1283039-1283879	GM12878	blood:	n/a	chr4:1283413-1283423 chr4:1283602-1283612
32	CHD2	chr4:1283184-1283759	K562	blood:	n/a	chr4:1283413-1283423 chr4:1283602-1283612
33	CHD2	chr4:1283230-1283810	Hela-S3	cervix:	n/a	chr4:1283413-1283423 chr4:1283602-1283612
34	CHD2	chr4:1283291-1283782	H1-hESC	embryonic stem cell:	n/a	chr4:1283413-1283423 chr4:1283602-1283612
35	CHD2	chr4:1283366-1283758	HepG2	liver:	n/a	chr4:1283413-1283423 chr4:1283602-1283612
36	CREB1	chr4:1283217-1283814	ECC-1	luminal epithelium:	n/a	n/a
37	CREB1	chr4:1283157-1283874	GM12878	blood:	n/a	n/a
38	CREB1	chr4:1283198-1283928	K562	blood:	n/a	n/a
39	CREB1	chr4:1283329-1283893	K562	blood:	n/a	n/a
40	CREB1	chr4:1283368-1283970	H1-hESC	embryonic stem cell:	n/a	n/a
41	CREB1	chr4:1283143-1283896	HepG2	liver:	n/a	n/a
42	CREB1	chr4:1283072-1283861	H1-hESC	embryonic stem cell:	n/a	n/a
43	CREB1	chr4:1283163-1283880	ECC-1	luminal epithelium:	n/a	n/a
44	CREB1	chr4:1282975-1284036	HepG2	liver:	n/a	n/a
45	CREB1	chr4:1283170-1284132	A549	lung:	n/a	n/a
46	CREB1	chr4:1283308-1283775	A549	lung:	n/a	n/a
47	CTCF	chr4:1284400-1284550	HCPEpiC	choroid plexus:	n/a	n/a
48	CTCF	chr4:1283519-1283521	Spleen_OC	spleen:	n/a	n/a
49	CTCF	chr4:1283617-1283677	Lung_OC	lung:	n/a	n/a
50	CTCF	chr4:1283508-1283708	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:1284946-1284996	PANC-1	pancreas:	n/a
2	chr4:1284946-1284996	AoSMC	blood vessel:	n/a
3	chr4:1283718-1283768	HRPEpiC	eye:	n/a
4	chr4:1284330-1284380	HCM	heart:	n/a
5	chr4:1284574-1284624	HRCEpiC	kidney:	n/a
6	chr4:1283560-1283610	AG09309	skin:	n/a
7	chr4:1284574-1284624	AG09319	gingival:	n/a
8	chr4:1283667-1283717	AG04449	skin:	fetal
9	chr4:1284330-1284380	BJ	skin:	n/a
10	chr4:1283472-1283522	HCPEpiC	choroid plexus:	n/a
11	chr4:1284946-1284996	PFSK-1	brain:	n/a
12	chr4:1283667-1283717	Caco-2	colon:	n/a
13	chr4:1284946-1284996	HAEpiC	amniotic membrane:	n/a
14	chr4:1283718-1283768	U87	brain:	n/a
15	chr4:1283472-1283522	HRPEpiC	eye:	n/a
16	chr4:1283472-1283522	AoSMC	blood vessel:	n/a
17	chr4:1283165-1283215	Jurkat	blood:	n/a
18	chr4:1284190-1284240	HAEpiC	amniotic membrane:	n/a
19	chr4:1284946-1284996	U87	brain:	n/a
20	chr4:1283667-1283717	T-47D	breast:	n/a
21	chr4:1284330-1284380	U87	brain:	n/a
22	chr4:1283560-1283610	SK-N-MC	brain:	n/a
23	chr4:1284330-1284380	Caco-2	colon:	n/a
24	chr4:1283560-1283610	ovcar-3	ovarian:	n/a
25	chr4:1283165-1283215	AG04449	skin:	fetal
26	chr4:1283472-1283522	SKMC	muscle:	n/a
27	chr4:1283718-1283768	HepG2	liver:	n/a
28	chr4:1283472-1283522	LNCaP	prostate:	n/a
29	chr4:1283718-1283768	HCPEpiC	choroid plexus:	n/a
30	chr4:1283165-1283215	Hepatocyte	liver:	n/a
31	chr4:1284946-1284996	NHDF-neo	bronchial:	n/a
32	chr4:1283396-1283446	MCF-7	breast:	n/a
33	chr4:1284946-1284996	H1-hESC	embryonic stem cell:	embryo
34	chr4:1283667-1283717	PANC-1	pancreas:	n/a
35	chr4:1284330-1284380	GM12891	blood:	n/a
36	chr4:1283560-1283610	HPAEpiC	pulmonary alveolar:	n/a
37	chr4:1284330-1284380	NH-A	brain:	n/a
38	chr4:1283472-1283522	SK-N-SH_RA	brain:	n/a
39	chr4:1283472-1283522	HRCEpiC	kidney:	n/a
40	chr4:1283718-1283768	CMK	blood:	n/a
41	chr4:1284946-1284996	HEK293	kidney:	embryo
42	chr4:1283718-1283768	Hepatocyte	liver:	n/a
43	chr4:1283472-1283522	ECC-1	luminal epithelium:	n/a
44	chr4:1284946-1284996	BE2_C	brain:	n/a
45	chr4:1283472-1283522	U87	brain:	n/a
46	chr4:1283472-1283522	HEK293	kidney:	embryo
47	chr4:1283721-1283771	SK-N-SH	brain:	n/a
48	chr4:1283472-1283522	HPAEpiC	pulmonary alveolar:	n/a
49	chr4:1283560-1283610	AG04449	skin:	fetal
50	chr4:1284190-1284240	H1-hESC	embryonic stem cell:	embryo

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:1230672..1232310-chr4:1283727..1285762,2	K562	blood:
2	chr17:7387016..7389305-chr4:1283766..1286186,2	MCF-7	breast:
3	chr4:1282479..1284255-chr4:1368607..1370125,2	K562	blood:
4	chr4:1272489..1274226-chr4:1281012..1283397,2	K562	blood:
5	chr4:964532..968039-chr4:1281587..1285155,3	K562	blood:
6	chr4:1078292..1079927-chr4:1283722..1285747,2	MCF-7	breast:
7	chr1:10056745..10057479-chr4:1283519..1284439,2	HCT-116	colon:
8	chr4:1284419..1287813-chr4:1334118..1338051,4	MCF-7	breast:
9	chr3:195041802..195042767-chr4:1283869..1284391,2	MCF-7	breast:
10	chr4:1280840..1286312-chr4:1338111..1343712,9	K562	blood:
11	chr4:1233077..1236112-chr4:1282661..1284848,3	MCF-7	breast:
12	chr4:1238004..1248980-chr4:1275065..1286840,30	K562	blood:
13	chr4:1242091..1248517-chr4:1279714..1285424,16	MCF-7	breast:
14	chr4:1003302..1006299-chr4:1283517..1285282,2	K562	blood:
15	chr10:112678380..112679153-chr4:1283021..1283576,2	Hela-S3	cervix:
16	chr4:1283242..1284963-chr4:1794686..1797481,2	K562	blood:
17	chr4:1238004..1246805-chr4:1279798..1288475,25	K562	blood:
18	chr4:491408..492966-chr4:1283659..1285933,2	K562	blood:
19	chr4:1005260..1007354-chr4:1282653..1285834,3	MCF-7	breast:
20	chr4:1282437..1287650-chr4:1338224..1344043,13	MCF-7	breast:
21	chr4:1283187..1284079-chr6:26157656..26158585,2	NB4	blood:
22	chr4:1280977..1287340-chr4:1335495..1344055,33	MCF-7	breast:
23	chr4:1236833..1250005-chr4:1276188..1292579,54	MCF-7	breast:
24	chr4:1253458..1255471-chr4:1281681..1283215,2	K562	blood:
25	chr4:1204791..1207603-chr4:1281765..1283856,2	MCF-7	breast:
26	chr4:1280807..1287593-chr4:1339102..1342185,6	K562	blood:
27	chr4:1159320..1162756-chr4:1282339..1286135,5	K562	blood:
28	chr4:1284288..1286116-chr4:1712306..1714315,2	K562	blood:
29	chr4:1271525..1273880-chr4:1284535..1286045,2	K562	blood:

No data

Variant related genes	Relation type
MAEA	TF binding region
MAEA	CpG island
ENSG00000214413	chromatin interactions
ENSG00000181222	chromatin interactions
ENSG00000127418	chromatin interactions
ENSG00000162444	chromatin interactions
ENSG00000145214	chromatin interactions
ENSG00000182903	chromatin interactions
ENSG00000273179	chromatin interactions
ENSG00000163950	chromatin interactions
ENSG00000196810	chromatin interactions
ENSG00000163945	chromatin interactions
ENSG00000159692	chromatin interactions
ENSG00000068078	chromatin interactions
ENSG00000174282	chromatin interactions
ENSG00000158373	chromatin interactions

Extended variants
information (count: 127 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557609093	chr4:1282531-1282532	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs546199402	chr4:1282637-1282638	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs565987799	chr4:1282638-1282639	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs147877029	chr4:1282672-1282673	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs1732099	chr4:1282696-1282697	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs922698	chr4:1282722-1282723	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs186387832	chr4:1282772-1282773	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs555627595	chr4:1282778-1282779	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs557685998	chr4:1282804-1282805	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs573968038	chr4:1282906-1282907	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs572926347	chr4:1282994-1282995	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs9631804	chr4:1283032-1283033	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs9631805	chr4:1283035-1283036	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs577977230	chr4:1283039-1283040	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs115536038	chr4:1283049-1283050	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs62295162	chr4:1283061-1283062	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs113980864	chr4:1283064-1283065	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs17131840	chr4:1283077-1283078	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs563454739	chr4:1283085-1283086	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs575374602	chr4:1283108-1283109	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs542701291	chr4:1283136-1283137	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs574554924	chr4:1283147-1283148	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs376928907	chr4:1283170-1283171	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs116129779	chr4:1283251-1283252	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
25	rs73795284	chr4:1283258-1283259	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs566856368	chr4:1283269-1283270	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
27	rs546162268	chr4:1283273-1283274	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
28	rs112765972	chr4:1283291-1283292	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
29	rs533430896	chr4:1283379-1283380	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
30	rs551685729	chr4:1283404-1283405	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
31	rs570227908	chr4:1283410-1283411	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
32	rs537285980	chr4:1283422-1283423	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
33	rs180955902	chr4:1283466-1283467	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
34	rs141500159	chr4:1283492-1283493	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
35	rs567604567	chr4:1283507-1283508	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
36	rs17164587	chr4:1283535-1283536	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
37	rs553366918	chr4:1283542-1283543	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
38	rs578093957	chr4:1283567-1283568	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
39	rs538910008	chr4:1283570-1283571	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
40	rs557017147	chr4:1283596-1283597	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
41	rs17164589	chr4:1283608-1283609	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs542413206	chr4:1283627-1283628	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
43	rs530675058	chr4:1283630-1283631	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs373968784	chr4:1283639-1283640	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
45	rs150170777	chr4:1283656-1283657	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs374890239	chr4:1283664-1283665	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
47	rs201086420	chr4:1283680-1283681	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
48	rs371622498	chr4:1283683-1283684	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
49	rs539974287	chr4:1283689-1283690	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
50	rs564516649	chr4:1283707-1283708	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Wolf-Hirschhorn syndrome	21549014	CNVD
Breast cancer	21806811	CNVD
Wolf-Hirschhorn syndrome	22283845	CNVD
Wolf-Hirschhorn syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Wolf-Hirschhorn syndrome	22470819	CNVD
Wolf-Hirschhorn syndrome	18541967	CNVD
sporadic birth defects	19047251	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17142309	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	20932292	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Type 2 diabetes	21754918	CNVD

Chromatin state (count:519 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1245800-1282600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr4:1245800-1282600	Weak transcription	Right Ventricle	heart
3	chr4:1246000-1282600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr4:1259400-1283000	Weak transcription	Ovary	ovary
5	chr4:1263400-1282600	Weak transcription	Brain Hippocampus Middle	brain
6	chr4:1263800-1282800	Weak transcription	Brain Anterior Caudate	brain
7	chr4:1280400-1282600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:1280400-1282800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr4:1281000-1283000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:1281400-1282600	Weak transcription	Fetal Intestine Small	intestine
11	chr4:1281800-1282600	Weak transcription	Fetal Intestine Large	intestine
12	chr4:1281800-1282600	Enhancers	Fetal Kidney	kidney
13	chr4:1282200-1282600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr4:1282400-1282600	Enhancers	H1 Cell Line	embryonic stem cell
15	chr4:1282400-1282600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:1282400-1282600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:1282400-1282600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:1282400-1282600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:1282400-1282600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:1282400-1282600	Enhancers	Primary hematopoietic stem cells	blood
21	chr4:1282400-1282600	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr4:1282400-1282600	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr4:1282400-1282600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:1282400-1282600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr4:1282400-1282600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:1282400-1282600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr4:1282400-1282600	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr4:1282400-1282600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:1282400-1282600	Enhancers	Brain Angular Gyrus	brain
30	chr4:1282400-1282600	Enhancers	Brain Substantia Nigra	brain
31	chr4:1282400-1282600	Enhancers	Fetal Brain Female	brain
32	chr4:1282400-1282600	Enhancers	Lung	lung
33	chr4:1282400-1282600	Flanking Bivalent TSS/Enh	HepG2	liver
34	chr4:1282400-1282600	Enhancers	HMEC	breast
35	chr4:1282400-1282600	Enhancers	NHEK	skin
36	chr4:1282400-1282800	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr4:1282400-1282800	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr4:1282400-1282800	Enhancers	Primary B cells from cord blood	blood
39	chr4:1282400-1282800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr4:1282400-1282800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr4:1282400-1282800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr4:1282400-1282800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr4:1282400-1282800	Enhancers	Liver	Liver
44	chr4:1282400-1282800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr4:1282400-1282800	Enhancers	Fetal Muscle Trunk	muscle
46	chr4:1282400-1282800	Enhancers	Fetal Muscle Leg	muscle
47	chr4:1282400-1282800	Enhancers	Fetal Thymus	thymus
48	chr4:1282400-1282800	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr4:1282400-1282800	Enhancers	Stomach Mucosa	stomach
50	chr4:1282400-1282800	Enhancers	Thymus	Thymus

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