Variant report

Variant	nsv916983
Chromosome Location	chr13:80065879-80249702
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1396)
CpG islands
(count:306)
Chromatin interactive
region (count:40)
LncRNA
region (count:14)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:1396 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr13:80065596-80066107	K562	blood:	n/a	chr13:80065944-80065959 chr13:80065830-80065846
2	ARID3A	chr13:80100544-80100694	K562	blood:	n/a	n/a
3	ARID3A	chr13:80115603-80115918	HepG2	liver:	n/a	chr13:80115873-80115889
4	ARID3A	chr13:80115600-80115887	K562	blood:	n/a	n/a
5	ATF1	chr13:80096642-80097077	K562	blood:	n/a	n/a
6	ATF1	chr13:80099637-80100087	K562	blood:	n/a	n/a
7	ATF2	chr13:80096502-80097091	GM12878	blood:	n/a	n/a
8	BACH1	chr13:80067110-80067114	K562	blood:	n/a	n/a
9	BACH1	chr13:80075569-80075731	K562	blood:	n/a	n/a
10	BATF	chr13:80096735-80097072	GM12878	blood:	n/a	n/a
11	BATF	chr13:80234775-80235020	GM12878	blood:	n/a	chr13:80234951-80234960
12	BATF	chr13:80096700-80097110	GM12878	blood:	n/a	n/a
13	BCL11A	chr13:80234561-80234759	GM12878	blood:	n/a	n/a
14	BCL11A	chr13:80234549-80234846	GM12878	blood:	n/a	n/a
15	BCL3	chr13:80065824-80066183	A549	lung:	n/a	n/a
16	BCLAF1	chr13:80096610-80097134	GM12878	blood:	n/a	n/a
17	BHLHE40	chr13:80077265-80077613	K562	blood:	n/a	chr13:80077425-80077434 chr13:80077424-80077433 chr13:80077425-80077434 chr13:80077423-80077436 chr13:80077419-80077440
18	BHLHE40	chr13:80096918-80096955	GM12878	blood:	n/a	n/a
19	BRCA1	chr13:80065646-80066250	Hela-S3	cervix:	n/a	n/a
20	BRCA1	chr13:80078949-80078955	Hela-S3	cervix:	n/a	n/a
21	CBX3	chr13:80205338-80205818	HCT-116	colon:	n/a	n/a
22	CCNT2	chr13:80159175-80159546	K562	blood:	n/a	n/a
23	CEBPB	chr13:80093506-80093839	IMR90	lung:	n/a	n/a
24	CEBPB	chr13:80079626-80079826	K562	blood:	n/a	n/a
25	CEBPB	chr13:80180088-80180361	A549	lung:	n/a	chr13:80180255-80180266
26	CEBPB	chr13:80180091-80180401	HepG2	liver:	n/a	chr13:80180255-80180266
27	CEBPB	chr13:80065739-80066257	A549	lung:	n/a	chr13:80065753-80065766
28	CEBPB	chr13:80180098-80180421	IMR90	lung:	n/a	chr13:80180255-80180266
29	CEBPB	chr13:80093568-80093730	A549	lung:	n/a	n/a
30	CEBPB	chr13:80122135-80122319	K562	blood:	n/a	n/a
31	CEBPB	chr13:80099568-80099966	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr13:80064921-80066410	Hela-S3	cervix:	n/a	chr13:80065753-80065766
33	CEBPB	chr13:80111604-80111924	K562	blood:	n/a	chr13:80111730-80111743 chr13:80111732-80111741 chr13:80111732-80111741 chr13:80111732-80111741 chr13:80111732-80111743 chr13:80111730-80111743 chr13:80111730-80111741 chr13:80111732-80111743 chr13:80111732-80111741 chr13:80111730-80111743
34	CEBPB	chr13:80159169-80159538	K562	blood:	n/a	n/a
35	CEBPB	chr13:80159186-80159446	K562	blood:	n/a	n/a
36	CEBPB	chr13:80102855-80103177	IMR90	lung:	n/a	n/a
37	CEBPB	chr13:80180075-80180350	Hela-S3	cervix:	n/a	chr13:80180255-80180266
38	CEBPB	chr13:80079639-80079797	H1-hESC	embryonic stem cell:	n/a	n/a
39	CEBPB	chr13:80178917-80179264	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chr13:80111610-80111877	IMR90	lung:	n/a	chr13:80111730-80111743 chr13:80111732-80111741 chr13:80111732-80111741 chr13:80111732-80111741 chr13:80111732-80111743 chr13:80111730-80111743 chr13:80111730-80111741 chr13:80111732-80111743 chr13:80111732-80111741 chr13:80111730-80111743
41	CEBPB	chr13:80111592-80111894	HepG2	liver:	n/a	chr13:80111730-80111743 chr13:80111732-80111741 chr13:80111732-80111741 chr13:80111732-80111741 chr13:80111732-80111743 chr13:80111730-80111743 chr13:80111730-80111741 chr13:80111732-80111743 chr13:80111732-80111741 chr13:80111730-80111743
42	CEBPB	chr13:80065712-80066219	A549	lung:	n/a	chr13:80065753-80065766
43	CEBPB	chr13:80233549-80233618	H1-hESC	embryonic stem cell:	n/a	n/a
44	CEBPB	chr13:80065609-80066314	IMR90	lung:	n/a	chr13:80065753-80065766
45	CEBPD	chr13:80159132-80159601	K562	blood:	n/a	n/a
46	CEBPD	chr13:80159119-80159586	K562	blood:	n/a	n/a
47	CHD2	chr13:80099666-80099920	Hela-S3	cervix:	n/a	n/a
48	CHD2	chr13:80096770-80096979	GM12878	blood:	n/a	n/a
49	CHD2	chr13:80077418-80077441	HepG2	liver:	n/a	n/a
50	CHD2	chr13:80065790-80066209	Hela-S3	cervix:	n/a	n/a

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:80173719-80173769	Caco-2	colon:	n/a
2	chr13:80173719-80173769	Caco-2	colon:	n/a
3	chr13:80173719-80173769	PFSK-1	brain:	n/a
4	chr13:80173719-80173769	HMEC	breast:	n/a
5	chr13:80233183-80233233	HEEpiC	esophagus:	n/a
6	chr13:80233183-80233233	BJ	skin:	n/a
7	chr13:80233183-80233233	AoSMC	blood vessel:	n/a
8	chr13:80109047-80109097	AG10803	skin:	n/a
9	chr13:80066032-80066082	SK-N-SH_RA	brain:	n/a
10	chr13:80233183-80233233	Hepatocyte	liver:	n/a
11	chr13:80233183-80233233	SK-N-SH	brain:	n/a
12	chr13:80233183-80233233	HRE	kidney:	n/a
13	chr13:80109047-80109097	SK-N-MC	brain:	n/a
14	chr13:80233183-80233233	SK-N-MC	brain:	n/a
15	chr13:80173719-80173769	H1-hESC	embryonic stem cell:	embryo
16	chr13:80109047-80109097	A549	lung:	n/a
17	chr13:80174349-80174399	Jurkat	blood:	n/a
18	chr13:80233183-80233233	HIPEpiC	eye:	n/a
19	chr13:80174349-80174399	BE2_C	brain:	n/a
20	chr13:80066032-80066082	CMK	blood:	n/a
21	chr13:80066032-80066082	AG04449	skin:	fetal
22	chr13:80109047-80109097	NB4	blood:	n/a
23	chr13:80066032-80066082	HEK293	kidney:	embryo
24	chr13:80174349-80174399	HRCEpiC	kidney:	n/a
25	chr13:80173719-80173769	HL-60	blood:	n/a
26	chr13:80173719-80173769	HCT-116	colon:	n/a
27	chr13:80066032-80066082	ECC-1	luminal epithelium:	n/a
28	chr13:80066032-80066082	AG09319	gingival:	n/a
29	chr13:80109047-80109097	SAEC	small airway:	n/a
30	chr13:80174349-80174399	SKMC	muscle:	n/a
31	chr13:80173719-80173769	HRCEpiC	kidney:	n/a
32	chr13:80173719-80173769	AG09309	skin:	n/a
33	chr13:80233183-80233233	Caco-2	colon:	n/a
34	chr13:80173719-80173769	HNPCEpiC	eye:	n/a
35	chr13:80233183-80233233	HCPEpiC	choroid plexus:	n/a
36	chr13:80109047-80109097	BJ	skin:	n/a
37	chr13:80173719-80173769	AG04450	lung:	fetal
38	chr13:80174349-80174399	AoSMC	blood vessel:	n/a
39	chr13:80109047-80109097	HCM	heart:	n/a
40	chr13:80233183-80233233	RPTEC	kidney:	n/a
41	chr13:80173719-80173769	NHDF-neo	bronchial:	n/a
42	chr13:80233183-80233233	SK-N-SH_RA	brain:	n/a
43	chr13:80066032-80066082	SKMC	muscle:	n/a
44	chr13:80174349-80174399	NHBE	bronchial:	n/a
45	chr13:80174349-80174399	SK-N-SH_RA	brain:	n/a
46	chr13:80066032-80066082	NHDF-neo	bronchial:	n/a
47	chr13:80109047-80109097	Hepatocyte	liver:	n/a
48	chr13:80233183-80233233	HepG2	liver:	n/a
49	chr13:80173719-80173769	RPTEC	kidney:	n/a
50	chr13:80066032-80066082	H1-hESC	embryonic stem cell:	embryo

(count:40 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:80054534..80056612-chr13:80065501..80067277,2	MCF-7	breast:
2	chr13:80063503..80065640-chr13:80065674..80068573,2	MCF-7	breast:
3	chr13:80088753..80091957-chr13:80093652..80097974,3	K562	blood:
4	chr13:80141740..80145180-chr13:80145215..80148510,3	K562	blood:
5	chr13:80104979..80107447-chr13:80112645..80114735,2	K562	blood:
6	chr13:80123748..80125276-chr13:80125653..80128359,2	K562	blood:
7	chr13:79978813..79981256-chr13:80124756..80127721,2	K562	blood:
8	chr13:80066505..80068962-chr13:80069682..80071575,2	MCF-7	breast:
9	chr13:80053689..80055771-chr13:80081076..80082958,2	K562	blood:
10	chr13:79998155..79998803-chr13:80115269..80115904,2	MCF-7	breast:
11	chr13:80096791..80099230-chr13:80099804..80101377,2	K562	blood:
12	chr13:79979230..79981360-chr13:80114547..80116069,2	K562	blood:
13	chr13:80088753..80091957-chr13:80093652..80097974,3	K562	blood:
14	chr13:79980185..79981866-chr13:80077804..80080259,2	MCF-7	breast:
15	chr13:79995522..79997375-chr13:80115696..80117615,2	K562	blood:
16	chr13:80123748..80125276-chr13:80125653..80128359,2	K562	blood:
17	chr13:79979153..79980826-chr13:80114031..80115734,2	MCF-7	breast:
18	chr13:79997858..79998911-chr13:80115291..80116142,9	K562	blood:
19	chr13:79979230..79982836-chr13:80114547..80117460,3	K562	blood:
20	chr13:80120811..80122493-chr13:80123557..80126338,2	K562	blood:
21	chr13:80120811..80122493-chr13:80123557..80126338,2	K562	blood:
22	chr13:80067322..80070236-chr13:80084629..80087501,2	K562	blood:
23	chr12:127885816..127886618-chr13:80115396..80116151,2	MCF-7	breast:
24	chr13:80094980..80096725-chr13:80098765..80101682,2	K562	blood:
25	chr13:80096791..80099230-chr13:80099804..80101377,2	K562	blood:
26	chr13:79979090..79981744-chr13:80104744..80106878,2	MCF-7	breast:
27	chr13:80057193..80059999-chr13:80114272..80116741,2	K562	blood:
28	chr13:79998273..79999800-chr13:80114332..80116846,2	K562	blood:
29	chr13:80061240..80063310-chr13:80064486..80066624,3	K562	blood:
30	chr13:80104979..80107447-chr13:80112645..80114735,2	K562	blood:
31	chr13:79959086..79961108-chr13:80114740..80116640,2	K562	blood:
32	chr13:80066505..80068962-chr13:80069682..80071575,2	MCF-7	breast:
33	chr13:80062237..80065016-chr13:80076512..80078758,2	K562	blood:
34	chr13:80067322..80070236-chr13:80084629..80087501,2	K562	blood:
35	chr13:80141740..80145180-chr13:80145215..80148510,3	K562	blood:
36	chr13:79920013..79921997-chr13:80113156..80114886,2	K562	blood:
37	chr13:80062181..80064765-chr13:80069081..80070994,2	K562	blood:
38	chr13:80094980..80096725-chr13:80098765..80101682,2	K562	blood:
39	chr13:80056153..80058862-chr13:80062367..80066425,4	K562	blood:
40	chr13:80054213..80059626-chr13:80061919..80068879,9	K562	blood:

(count:14 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NDFIP2-3	chr13:80211603-80211770	XLOC_010447
2	lnc-NDFIP2-1	chr13:80145215-80145923	XLOC_010446
3	lnc-NDFIP2-1	chr13:80144698-80144885	NONHSAT034489
4	lnc-NDFIP2-1	chr13:80144698-80144983	ENSG00000227676.2
5	lnc-NDFIP2-1	chr13:80132494-80132526	NONHSAT034489
6	lnc-NDFIP2-1	chr13:80144923-80146077	NONHSAT034493
7	lnc-RBM26-3	chr13:80144698-80144983	XLOC_010668
8	lnc-NDFIP2-3	chr13:80240740-80240876	XLOC_010447
9	lnc-NDFIP2-1	chr13:80144698-80144885	XLOC_010446
10	lnc-RBM26-3	chr13:80140881-80140942	XLOC_010668
11	lnc-NDFIP2-1	chr13:80140837-80140942	XLOC_010446
12	lnc-NDFIP2-1	chr13:80145215-80145335	NONHSAT034489
13	lnc-NDFIP2-1	chr13:80144654-80144915	NONHSAT034493
14	lnc-NDFIP2-1	chr13:80140881-80140942	ENSG00000227676.2

No data

(count:3 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	NDFIP2	hsa-miR-378a-3p	chr13:80126910-80126931
2	NDFIP2	hsa-miR-7-5p	chr13:80126970-80126992
3	NDFIP2	hsa-miR-7-5p	chr13:80125592-80125599

Variant related genes	Relation type
LINC01068	TF binding region
NDFIP2	TF binding region
LINC01068	CpG island
NDFIP2	CpG island
ENSG00000102471	chromatin interactions
ENSG00000227354	chromatin interactions
ENSG00000139746	chromatin interactions
ENSG00000232132	chromatin interactions

Extended variants
information (count: 6334 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:6334 , 50 per page) page: 1 2 3 4 5 6 7 ... 127

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114035346	chr13:80065952-80065953	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs117556906	chr13:80066032-80066033	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs557256536	chr13:80066120-80066121	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs73234681	chr13:80066168-80066169	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs539683510	chr13:80066188-80066189	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs188479080	chr13:80066257-80066258	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs148706703	chr13:80066282-80066283	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs370199816	chr13:80066296-80066297	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs7139938	chr13:80066306-80066307	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs532018416	chr13:80066345-80066346	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs80008599	chr13:80066348-80066349	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs575227991	chr13:80066380-80066381	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs543004156	chr13:80066404-80066405	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs200237716	chr13:80066405-80066406	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs369562659	chr13:80066410-80066411	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs568637154	chr13:80066453-80066454	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs563583342	chr13:80066458-80066459	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs532440377	chr13:80066468-80066469	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs552447389	chr13:80066487-80066488	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs144723704	chr13:80066495-80066496	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs535712735	chr13:80066539-80066540	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs192015693	chr13:80066570-80066571	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs548680320	chr13:80066577-80066578	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs147896358	chr13:80066608-80066609	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs73551544	chr13:80066622-80066623	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs550550695	chr13:80066625-80066626	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs570854340	chr13:80066640-80066641	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs73234683	chr13:80066666-80066667	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs141350085	chr13:80066693-80066694	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs73551545	chr13:80066701-80066702	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs145259938	chr13:80066723-80066724	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs371500124	chr13:80066728-80066729	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs9530925	chr13:80066776-80066777	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs369762158	chr13:80066779-80066780	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs574407106	chr13:80066786-80066787	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs557771230	chr13:80066788-80066789	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs147613783	chr13:80066801-80066802	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs184220142	chr13:80066824-80066825	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs34055250	chr13:80066858-80066859	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs140905114	chr13:80066911-80066912	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs188630110	chr13:80066922-80066923	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs559654480	chr13:80066956-80066957	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs373907582	chr13:80066987-80066988	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs150156182	chr13:80067002-80067003	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs57068944	chr13:80067003-80067004	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs117296092	chr13:80067069-80067070	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs530904789	chr13:80067095-80067096	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs146651892	chr13:80067109-80067110	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs202130857	chr13:80067191-80067192	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs573982751	chr13:80067193-80067194	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21858162	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	19490664	CNVD
Neurodevelopmental disorder	22521361	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Breast cancer	21364760	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Schizophrenia	19197363	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1919 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80056200-80066400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:80056200-80066600	Weak transcription	Psoas Muscle	Psoas
3	chr13:80056200-80077400	Weak transcription	Right Ventricle	heart
4	chr13:80057000-80066200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr13:80059000-80077200	Weak transcription	Small Intestine	intestine
6	chr13:80059400-80066400	Weak transcription	Fetal Thymus	thymus
7	chr13:80059600-80066200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr13:80059600-80066600	Weak transcription	Brain Angular Gyrus	brain
9	chr13:80059600-80068800	Weak transcription	Brain Substantia Nigra	brain
10	chr13:80060000-80075600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr13:80061000-80066400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr13:80061200-80071200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr13:80062000-80075800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr13:80063400-80066000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr13:80063400-80067000	Enhancers	Fetal Heart	heart
16	chr13:80063400-80077200	Weak transcription	K562	blood
17	chr13:80063600-80066800	Weak transcription	Brain Hippocampus Middle	brain
18	chr13:80063600-80067600	Enhancers	Duodenum Mucosa	Duodenum
19	chr13:80063800-80066800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr13:80064000-80066800	Enhancers	Stomach Mucosa	stomach
21	chr13:80064200-80066800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr13:80064200-80066800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr13:80064200-80067000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr13:80064400-80066400	Weak transcription	Lung	lung
25	chr13:80064400-80066600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr13:80064400-80066600	Enhancers	NHLF	lung
27	chr13:80064400-80066800	Enhancers	Fetal Stomach	stomach
28	chr13:80064400-80066800	Weak transcription	GM12878-XiMat	blood
29	chr13:80064600-80066200	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr13:80064600-80066400	Weak transcription	Left Ventricle	heart
31	chr13:80064600-80067000	Enhancers	Colon Smooth Muscle	Colon
32	chr13:80064600-80067200	Enhancers	NH-A	brain
33	chr13:80064600-80067400	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr13:80064600-80069000	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr13:80064600-80069000	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr13:80064800-80066200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr13:80064800-80066400	Weak transcription	Pancreas	Pancrea
38	chr13:80064800-80066600	Weak transcription	Esophagus	oesophagus
39	chr13:80064800-80066600	Weak transcription	Right Atrium	heart
40	chr13:80064800-80066600	Flanking Active TSS	A549	lung
41	chr13:80064800-80067000	Enhancers	NHDF-Ad	bronchial
42	chr13:80064800-80067200	Enhancers	HSMM	muscle
43	chr13:80064800-80069000	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr13:80064800-80069000	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr13:80064800-80069800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr13:80064800-80084800	Weak transcription	Fetal Intestine Small	intestine
47	chr13:80065000-80066000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr13:80065000-80066200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr13:80065000-80066400	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr13:80065000-80066600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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