Variant report

Variant	nsv563125
Chromosome Location	chr13:111280002-111309617
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr13:111291711-111291958	GM12878	blood:	n/a	n/a
2	ATF2	chr13:111297005-111297508	GM12878	blood:	n/a	n/a
3	ATF2	chr13:111292717-111293400	GM12878	blood:	n/a	n/a
4	ATF2	chr13:111297171-111297695	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr13:111297197-111297370	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCL11A	chr13:111305620-111305918	GM12878	blood:	n/a	n/a
7	BCL3	chr13:111288436-111289023	GM12878	blood:	n/a	n/a
8	BCL3	chr13:111288430-111289017	GM12878	blood:	n/a	n/a
9	BCL3	chr13:111292574-111293622	GM12878	blood:	n/a	n/a
10	BCL3	chr13:111290622-111290977	GM12878	blood:	n/a	n/a
11	BCL3	chr13:111294690-111295365	GM12878	blood:	n/a	n/a
12	BCL3	chr13:111296950-111297667	GM12878	blood:	n/a	chr13:111297442-111297455 chr13:111297171-111297180
13	BCLAF1	chr13:111297119-111297528	GM12878	blood:	n/a	chr13:111297442-111297455 chr13:111297171-111297180
14	BHLHE40	chr13:111305676-111305930	GM12878	blood:	n/a	n/a
15	BHLHE40	chr13:111293527-111293717	K562	blood:	n/a	n/a
16	BHLHE40	chr13:111305214-111305424	GM12878	blood:	n/a	n/a
17	BHLHE40	chr13:111297241-111297508	GM12878	blood:	n/a	n/a
18	BRCA1	chr13:111297153-111297341	H1-hESC	embryonic stem cell:	n/a	n/a
19	CCNT2	chr13:111300553-111300752	K562	blood:	n/a	n/a
20	CEBPB	chr13:111297242-111297484	H1-hESC	embryonic stem cell:	n/a	n/a
21	CEBPB	chr13:111296399-111296684	HepG2	liver:	n/a	chr13:111296543-111296552 chr13:111296543-111296552 chr13:111296541-111296552 chr13:111296543-111296552 chr13:111296541-111296552 chr13:111296542-111296553 chr13:111296543-111296552 chr13:111296541-111296554 chr13:111296541-111296554
22	CEBPB	chr13:111296411-111296698	K562	blood:	n/a	chr13:111296543-111296552 chr13:111296543-111296552 chr13:111296541-111296552 chr13:111296543-111296552 chr13:111296541-111296552 chr13:111296542-111296553 chr13:111296543-111296552 chr13:111296541-111296554 chr13:111296541-111296554
23	CEBPB	chr13:111296368-111296718	A549	lung:	n/a	chr13:111296543-111296552 chr13:111296543-111296552 chr13:111296541-111296552 chr13:111296543-111296552 chr13:111296541-111296552 chr13:111296542-111296553 chr13:111296543-111296552 chr13:111296541-111296554 chr13:111296541-111296554
24	CEBPB	chr13:111297942-111298042	K562	blood:	n/a	n/a
25	CEBPB	chr13:111297861-111298066	HepG2	liver:	n/a	chr13:111297935-111297948 chr13:111297935-111297948 chr13:111297935-111297946
26	CEBPB	chr13:111297784-111298052	Hela-S3	cervix:	n/a	chr13:111297935-111297948 chr13:111297935-111297948 chr13:111297935-111297946
27	CEBPB	chr13:111297872-111298004	H1-hESC	embryonic stem cell:	n/a	chr13:111297935-111297948 chr13:111297935-111297948 chr13:111297935-111297946
28	CEBPB	chr13:111281706-111282042	K562	blood:	n/a	chr13:111281729-111281740
29	CEBPB	chr13:111281662-111281925	HepG2	liver:	n/a	chr13:111281729-111281740
30	CHD1	chr13:111297274-111297466	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD2	chr13:111297248-111297539	H1-hESC	embryonic stem cell:	n/a	n/a
32	CHD2	chr13:111297277-111297291	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr13:111297260-111297410	BJ	skin:	n/a	chr13:111297321-111297342
34	CTCF	chr13:111290257-111290401	GM19238	blood:	n/a	n/a
35	CTCF	chr13:111299620-111299770	WERI-Rb-1	eye:	n/a	n/a
36	CTCF	chr13:111297280-111297430	GM12865	blood:	n/a	chr13:111297321-111297342
37	CTCF	chr13:111297220-111297370	GM12868	blood:	n/a	chr13:111297321-111297342
38	CTCF	chr13:111297540-111297690	AG04450	lung:	n/a	chr13:111297601-111297614 chr13:111297601-111297614 chr13:111297606-111297614
39	CTCF	chr13:111297300-111297450	NB4	blood:	n/a	chr13:111297321-111297342
40	CTCF	chr13:111297220-111297370	GM12865	blood:	n/a	chr13:111297321-111297342
41	CTCF	chr13:111297519-111297686	Pancreas_OC	pancreas:	n/a	chr13:111297601-111297614 chr13:111297601-111297614 chr13:111297606-111297614
42	CTCF	chr13:111297540-111297690	AG09319	gingival:	n/a	chr13:111297601-111297614 chr13:111297601-111297614 chr13:111297606-111297614
43	CTCF	chr13:111297206-111297458	GM12878	blood:	n/a	chr13:111297321-111297342
44	CTCF	chr13:111297588-111297670	Kidney_OC	kidney:	n/a	chr13:111297601-111297614 chr13:111297601-111297614 chr13:111297606-111297614
45	CTCF	chr13:111297260-111297410	GM12869	blood:	n/a	chr13:111297321-111297342
46	CTCF	chr13:111297450-111297458	Lung_OC	lung:	n/a	n/a
47	CTCF	chr13:111297480-111297630	HMF	breast:	n/a	chr13:111297601-111297614 chr13:111297601-111297614 chr13:111297606-111297614
48	CTCF	chr13:111297540-111297690	MCF-7	breast:	n/a	chr13:111297601-111297614 chr13:111297601-111297614 chr13:111297606-111297614
49	CTCF	chr13:111297540-111297690	BE2_C	brain:	n/a	chr13:111297601-111297614 chr13:111297601-111297614 chr13:111297606-111297614
50	CTCF	chr13:111284933-111285006	GM13976	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:111306312-111306362	HRCEpiC	kidney:	n/a
2	chr13:111297551-111297601	T-47D	breast:	n/a
3	chr13:111288438-111288488	HMEC	breast:	n/a
4	chr13:111303698-111303748	Jurkat	blood:	n/a
5	chr13:111291316-111291366	HEEpiC	esophagus:	n/a
6	chr13:111306312-111306362	HRCEpiC	kidney:	n/a
7	chr13:111297551-111297601	T-47D	breast:	n/a
8	chr13:111288438-111288488	HMEC	breast:	n/a
9	chr13:111303698-111303748	Jurkat	blood:	n/a
10	chr13:111291316-111291366	HEEpiC	esophagus:	n/a
11	chr13:111303423-111303473	HCPEpiC	choroid plexus:	n/a
12	chr13:111281479-111281529	HMEC	breast:	n/a
13	chr13:111305805-111305855	RPTEC	kidney:	n/a
14	chr13:111301487-111301537	Caco-2	colon:	n/a
15	chr13:111290755-111290805	HCF	heart:	n/a
16	chr13:111295728-111295778	T-47D	breast:	n/a
17	chr13:111306273-111306323	HCM	heart:	n/a
18	chr13:111297400-111297450	SK-N-SH_RA	brain:	n/a
19	chr13:111281384-111281434	U87	brain:	n/a
20	chr13:111297551-111297601	LNCaP	prostate:	n/a
21	chr13:111294884-111294934	NB4	blood:	n/a
22	chr13:111286999-111287049	GM06990	blood:	n/a
23	chr13:111281129-111281179	HUVEC	blood vessel:	n/a
24	chr13:111301317-111301367	HCF	heart:	n/a
25	chr13:111303789-111303839	BJ	skin:	n/a
26	chr13:111303789-111303839	NH-A	brain:	n/a
27	chr13:111301576-111301626	U87	brain:	n/a
28	chr13:111281479-111281529	HEK293	kidney:	embryo
29	chr13:111306312-111306362	NH-A	brain:	n/a
30	chr13:111297551-111297601	ECC-1	luminal epithelium:	n/a
31	chr13:111290667-111290717	BJ	skin:	n/a
32	chr13:111291582-111291632	NH-A	brain:	n/a
33	chr13:111303423-111303473	HNPCEpiC	eye:	n/a
34	chr13:111285565-111285615	GM12892	blood:	n/a
35	chr13:111281384-111281434	NHBE	bronchial:	n/a
36	chr13:111288032-111288082	HUVEC	blood vessel:	n/a
37	chr13:111306273-111306323	NHDF-neo	bronchial:	n/a
38	chr13:111303244-111303294	HIPEpiC	eye:	n/a
39	chr13:111281384-111281434	HAEpiC	amniotic membrane:	n/a
40	chr13:111281479-111281529	HCM	heart:	n/a
41	chr13:111281144-111281194	GM12892	blood:	n/a
42	chr13:111281324-111281374	MCF10A-Er-Src	breast:	n/a
43	chr13:111281324-111281374	SK-N-SH	brain:	n/a
44	chr13:111294884-111294934	LNCaP	prostate:	n/a
45	chr13:111303340-111303390	Jurkat	blood:	n/a
46	chr13:111287117-111287167	Caco-2	colon:	n/a
47	chr13:111301576-111301626	HUVEC	blood vessel:	n/a
48	chr13:111287117-111287167	T-47D	breast:	n/a
49	chr13:111305863-111305913	PrEC	prostate:	n/a
50	chr13:111291685-111291735	HPAEpiC	pulmonary alveolar:	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:111303184..111305252-chr13:111363759..111366267,2	MCF-7	breast:
2	chr13:111277332..111280156-chr13:111289105..111290945,2	MCF-7	breast:
3	chr13:111295643..111300120-chr13:111365518..111369026,8	MCF-7	breast:
4	chr13:111280819..111283163-chr13:111298869..111301563,3	K562	blood:
5	chr13:111292709..111295545-chr13:111300565..111303424,2	MCF-7	breast:
6	chr13:111294769..111302902-chr13:111363368..111369699,14	K562	blood:
7	chr13:111297577..111299513-chr13:111565470..111567515,2	MCF-7	breast:
8	chr13:111280796..111283636-chr13:111367642..111369332,2	K562	blood:
9	chr13:111287423..111289848-chr13:111365878..111368153,2	MCF-7	breast:
10	chr13:111295716..111298451-chr13:111301231..111303223,3	MCF-7	breast:
11	chr13:111287003..111289809-chr13:111566070..111568939,2	K562	blood:
12	chr13:111303282..111307425-chr13:111364172..111367673,6	MCF-7	breast:
13	chr13:111299507..111301801-chr13:111367049..111369699,2	K562	blood:
14	chr13:111308870..111310970-chr13:111364817..111367512,2	MCF-7	breast:
15	chr13:111245045..111250011-chr13:111292249..111295847,5	MCF-7	breast:
16	chr13:111285638..111287730-chr13:111364678..111367940,3	MCF-7	breast:
17	chr13:111288106..111291537-chr13:111365021..111367152,3	K562	blood:
18	chr13:111294769..111296453-chr13:111366037..111368687,3	K562	blood:
19	chr13:111266306..111273367-chr13:111274094..111280494,12	K562	blood:
20	chr13:111267921..111270163-chr13:111289347..111290890,2	MCF-7	breast:
21	chr13:111300583..111303510-chr13:111304221..111307506,4	K562	blood:
22	chr13:111282173..111283948-chr13:111364006..111365721,2	K562	blood:
23	chr13:111304729..111307376-chr13:111307813..111310341,2	K562	blood:
24	chr13:111301542..111303222-chr13:111306066..111307646,2	MCF-7	breast:
25	chr13:111266944..111268705-chr13:111296076..111298471,2	K562	blood:
26	chr13:111296887..111299817-chr13:111365376..111368411,4	MCF-7	breast:
27	chr13:111292549..111296522-chr13:111365011..111368169,4	MCF-7	breast:
28	chr13:111302128..111303846-chr13:111308672..111310987,2	K562	blood:
29	chr13:111107824..111108748-chr13:111297271..111297854,2	MCF-7	breast:
30	chr13:111295887..111296636-chr19:10443828..10444619,2	NB4	blood:
31	chr13:111292910..111295041-chr13:111296553..111298081,2	MCF-7	breast:
32	chr13:111286262..111288544-chr13:111335123..111337975,2	K562	blood:
33	chr13:111266314..111268979-chr13:111280505..111282766,2	K562	blood:
34	chr13:111287671..111291034-chr13:111291640..111294816,4	MCF-7	breast:
35	chr13:111293993..111296064-chr13:111303671..111305521,2	K562	blood:
36	chr13:111300252..111302823-chr17:62160230..62162389,2	MCF-7	breast:
37	chr13:111299129..111300874-chr13:111356502..111358469,2	K562	blood:
38	chr13:111266587..111269411-chr13:111303946..111305704,2	K562	blood:
39	chr13:111266655..111268705-chr13:111294879..111298471,3	K562	blood:
40	chr13:111266678..111269187-chr13:111295319..111298212,3	MCF-7	breast:
41	chr13:111277332..111280156-chr13:111289105..111290945,2	MCF-7	breast:
42	chr13:111300583..111303510-chr13:111304221..111307506,4	K562	blood:
43	chr13:111287671..111291034-chr13:111291640..111294816,4	MCF-7	breast:
44	chr13:111292709..111295545-chr13:111300565..111303424,2	MCF-7	breast:
45	chr13:111265898..111273230-chr13:111273500..111281065,16	MCF-7	breast:
46	chr13:111266604..111270536-chr13:111275017..111281975,10	MCF-7	breast:
47	chr13:111305324..111306927-chr13:111562816..111565000,2	MCF-7	breast:
48	chr13:111301542..111303222-chr13:111306066..111307646,2	MCF-7	breast:
49	chr13:111280819..111283163-chr13:111298869..111301563,3	K562	blood:
50	chr13:111267955..111269613-chr13:111288415..111289925,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CARKD-1	chr13:111291555-111292340	NONHSAT035156

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	CARS2	hsa-miR-155-5p	chr13:111293778-111293799

Variant related genes	Relation type
CARS2	TF binding region
ENSG00000255831	TF binding region
CARS2	CpG island
ENSG00000255831	CpG island
ENSG00000088448	chromatin interactions
ENSG00000153487	chromatin interactions
ENSG00000213995	chromatin interactions
ENSG00000255831	chromatin interactions
ENSG00000134905	chromatin interactions
ENSG00000161847	chromatin interactions
ENSG00000196177	chromatin interactions

Extended variants
information (count: 1661 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1661 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3742193	chr13:111280002-111280003	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs376375207	chr13:111280013-111280014	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs549417346	chr13:111280037-111280038	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs561062257	chr13:111280070-111280071	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs12184786	chr13:111280075-111280076	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs3742194	chr13:111280078-111280079	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs546818831	chr13:111280089-111280090	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs417714	chr13:111280190-111280191	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs558927886	chr13:111280283-111280284	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs3825465	chr13:111280284-111280285	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs79085219	chr13:111280306-111280307	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs558539015	chr13:111280320-111280321	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs542296961	chr13:111280354-111280355	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs536649186	chr13:111280355-111280356	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs193250124	chr13:111280367-111280368	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs115871027	chr13:111280373-111280374	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs534797042	chr13:111280379-111280380	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs562087067	chr13:111280460-111280461	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs185714226	chr13:111280469-111280470	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs143775857	chr13:111280474-111280475	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs148127770	chr13:111280503-111280504	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs563445688	chr13:111280532-111280533	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs575560712	chr13:111280543-111280544	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs527649023	chr13:111280544-111280545	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs542677289	chr13:111280631-111280632	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs114516054	chr13:111280671-111280672	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs541338289	chr13:111280699-111280700	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs528596156	chr13:111280710-111280711	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs1041143	chr13:111280712-111280713	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs2011692	chr13:111280738-111280739	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs144139383	chr13:111280742-111280743	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs542308219	chr13:111280747-111280748	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs575502113	chr13:111280800-111280801	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs563663388	chr13:111280832-111280833	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs569464282	chr13:111280856-111280857	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs186706269	chr13:111280859-111280860	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs549035962	chr13:111280912-111280913	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs567361399	chr13:111280923-111280924	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs9515260	chr13:111280950-111280951	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs146903377	chr13:111280954-111280955	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs577727875	chr13:111281020-111281021	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs552252765	chr13:111281089-111281090	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs538470957	chr13:111281097-111281098	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs330556	chr13:111281105-111281106	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs575476918	chr13:111281180-111281181	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs138683851	chr13:111281183-111281184	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs7995119	chr13:111281252-111281253	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs572996999	chr13:111281254-111281255	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs75818740	chr13:111281291-111281292	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs142688440	chr13:111281306-111281307	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Cancer	20164919	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
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Gastric cancer	17908304	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
Acute myeloid leukemia	21251322	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Burkitt''s lymphoma	20823134	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Burkitt''s lymphoma	19759907	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Medulloblastoma	19270706	CNVD
Mental retardation	17124404	CNVD
Leukemia	18688285	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21858162	CNVD
Melanoma	17363583	CNVD
Developmental delay	21147756	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	16608533	CNVD
Glioblastoma multiforme	22286061	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
abnormal development	18461090	CNVD
Malignant glioma	17146433	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Glioma	17123091	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	20409316	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Neurocytoma	17123091	CNVD
Mantle cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD

Chromatin state (count:1284 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111269000-111287000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:111269400-111286600	Weak transcription	Fetal Brain Male	brain
3	chr13:111269400-111287200	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr13:111270400-111280200	Weak transcription	Fetal Heart	heart
5	chr13:111270400-111282800	Weak transcription	Fetal Kidney	kidney
6	chr13:111270800-111296800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr13:111271200-111287000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr13:111271400-111281400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr13:111271600-111281600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr13:111273400-111281200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr13:111274400-111284400	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr13:111274600-111281200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr13:111274600-111281400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr13:111274600-111281600	Strong transcription	Brain Anterior Caudate	brain
15	chr13:111274600-111281800	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr13:111274600-111282200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr13:111274600-111282200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr13:111274600-111282400	Strong transcription	NHLF	lung
19	chr13:111274600-111283600	Strong transcription	Thymus	Thymus
20	chr13:111274600-111284200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr13:111274600-111284200	Strong transcription	Adipose Nuclei	Adipose
22	chr13:111274600-111284200	Strong transcription	Duodenum Mucosa	Duodenum
23	chr13:111274600-111284400	Strong transcription	Placenta	Placenta
24	chr13:111274600-111284400	Strong transcription	Dnd41	blood
25	chr13:111274600-111285000	Strong transcription	Primary B cells from peripheral blood	blood
26	chr13:111274800-111280200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr13:111274800-111284000	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr13:111274800-111284200	Strong transcription	Primary T cells from cord blood	blood
29	chr13:111274800-111284400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr13:111274800-111284400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr13:111275000-111281600	Strong transcription	Fetal Brain Female	brain
32	chr13:111275600-111287400	Weak transcription	K562	blood
33	chr13:111275800-111280600	Weak transcription	NHDF-Ad	bronchial
34	chr13:111275800-111281800	Weak transcription	HSMMtube	muscle
35	chr13:111276000-111280200	Weak transcription	Psoas Muscle	Psoas
36	chr13:111276000-111280800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr13:111276000-111286000	Weak transcription	HUVEC	blood vessel
38	chr13:111276000-111286200	Weak transcription	A549	lung
39	chr13:111276200-111281000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr13:111277000-111281400	Strong transcription	Brain Germinal Matrix	brain
41	chr13:111277000-111282400	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr13:111277000-111284200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr13:111277200-111281400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr13:111277400-111280800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr13:111277600-111281800	Weak transcription	Primary B cells from cord blood	blood
46	chr13:111277800-111281200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr13:111277800-111283000	Weak transcription	Hela-S3	cervix
48	chr13:111277800-111284400	Strong transcription	Fetal Muscle Leg	muscle
49	chr13:111277800-111286800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr13:111278000-111286600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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