Variant report

Variant	nsv1042232
Chromosome Location	chr13:111282123-111348475
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1836)
CpG islands
(count:4586)
Chromatin interactive
region (count:89)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:1836 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr13:111336891-111337374	HepG2	liver:	n/a	n/a
2	ARID3A	chr13:111335600-111336012	HepG2	liver:	n/a	n/a
3	ATF2	chr13:111310393-111311021	GM12878	blood:	n/a	n/a
4	ATF2	chr13:111328300-111329671	GM12878	blood:	n/a	n/a
5	ATF2	chr13:111292717-111293400	GM12878	blood:	n/a	n/a
6	ATF2	chr13:111328388-111328778	GM12878	blood:	n/a	n/a
7	ATF2	chr13:111297171-111297695	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr13:111291711-111291958	GM12878	blood:	n/a	n/a
9	ATF2	chr13:111310549-111311028	GM12878	blood:	n/a	n/a
10	ATF2	chr13:111297005-111297508	GM12878	blood:	n/a	n/a
11	BACH1	chr13:111297197-111297370	H1-hESC	embryonic stem cell:	n/a	n/a
12	BATF	chr13:111310573-111310884	GM12878	blood:	n/a	n/a
13	BATF	chr13:111329690-111330085	GM12878	blood:	n/a	n/a
14	BATF	chr13:111328517-111328988	GM12878	blood:	n/a	n/a
15	BATF	chr13:111310577-111310834	GM12878	blood:	n/a	n/a
16	BCL11A	chr13:111328428-111328936	GM12878	blood:	n/a	n/a
17	BCL11A	chr13:111329451-111330173	GM12878	blood:	n/a	n/a
18	BCL11A	chr13:111305620-111305918	GM12878	blood:	n/a	n/a
19	BCL3	chr13:111296950-111297667	GM12878	blood:	n/a	chr13:111297442-111297455 chr13:111297171-111297180
20	BCL3	chr13:111290622-111290977	GM12878	blood:	n/a	n/a
21	BCL3	chr13:111294690-111295365	GM12878	blood:	n/a	n/a
22	BCL3	chr13:111288436-111289023	GM12878	blood:	n/a	n/a
23	BCL3	chr13:111288430-111289017	GM12878	blood:	n/a	n/a
24	BCL3	chr13:111292574-111293622	GM12878	blood:	n/a	n/a
25	BCL3	chr13:111328387-111328879	GM12878	blood:	n/a	n/a
26	BCLAF1	chr13:111297119-111297528	GM12878	blood:	n/a	chr13:111297442-111297455 chr13:111297171-111297180
27	BCLAF1	chr13:111310470-111310931	GM12878	blood:	n/a	n/a
28	BCLAF1	chr13:111328295-111329322	GM12878	blood:	n/a	n/a
29	BCLAF1	chr13:111328372-111329520	GM12878	blood:	n/a	n/a
30	BHLHE40	chr13:111305676-111305930	GM12878	blood:	n/a	n/a
31	BHLHE40	chr13:111310473-111310899	GM12878	blood:	n/a	n/a
32	BHLHE40	chr13:111293527-111293717	K562	blood:	n/a	n/a
33	BHLHE40	chr13:111328344-111329778	GM12878	blood:	n/a	chr13:111328790-111328806 chr13:111328782-111328798
34	BHLHE40	chr13:111305214-111305424	GM12878	blood:	n/a	n/a
35	BHLHE40	chr13:111297241-111297508	GM12878	blood:	n/a	n/a
36	BRCA1	chr13:111328583-111329166	GM12878	blood:	n/a	n/a
37	BRCA1	chr13:111297153-111297341	H1-hESC	embryonic stem cell:	n/a	n/a
38	CCNT2	chr13:111300553-111300752	K562	blood:	n/a	n/a
39	CEBPB	chr13:111297861-111298066	HepG2	liver:	n/a	chr13:111297935-111297948 chr13:111297935-111297948 chr13:111297935-111297946
40	CEBPB	chr13:111297242-111297484	H1-hESC	embryonic stem cell:	n/a	n/a
41	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
42	CEBPB	chr13:111335776-111336154	HepG2	liver:	n/a	n/a
43	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
44	CEBPB	chr13:111335784-111336094	A549	lung:	n/a	n/a
45	CEBPB	chr13:111297784-111298052	Hela-S3	cervix:	n/a	chr13:111297935-111297948 chr13:111297935-111297948 chr13:111297935-111297946
46	CEBPB	chr13:111310783-111310860	K562	blood:	n/a	n/a
47	CEBPB	chr13:111336870-111336959	HepG2	liver:	n/a	n/a
48	CEBPB	chr13:111335778-111336129	K562	blood:	n/a	n/a
49	CEBPB	chr13:111297942-111298042	K562	blood:	n/a	n/a
50	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

(count:4586 , 50 per page) page: 1 2 3 4 5 6 7 ... 92

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:111340409-111340459	HRE	kidney:	n/a
2	chr13:111288822-111288872	BJ	skin:	n/a
3	chr13:111336430-111336480	SK-N-SH	brain:	n/a
4	chr13:111290748-111290798	SK-N-SH_RA	brain:	n/a
5	chr13:111305805-111305855	PANC-1	pancreas:	n/a
6	chr13:111303698-111303748	HRE	kidney:	n/a
7	chr13:111305863-111305913	HPAEpiC	pulmonary alveolar:	n/a
8	chr13:111299462-111299512	PFSK-1	brain:	n/a
9	chr13:111291685-111291735	HepG2	liver:	n/a
10	chr13:111330699-111330749	HEK293	kidney:	embryo
11	chr13:111303244-111303294	LNCaP	prostate:	n/a
12	chr13:111340409-111340459	HRE	kidney:	n/a
13	chr13:111288822-111288872	BJ	skin:	n/a
14	chr13:111336430-111336480	SK-N-SH	brain:	n/a
15	chr13:111290748-111290798	SK-N-SH_RA	brain:	n/a
16	chr13:111305805-111305855	PANC-1	pancreas:	n/a
17	chr13:111303698-111303748	HRE	kidney:	n/a
18	chr13:111305863-111305913	HPAEpiC	pulmonary alveolar:	n/a
19	chr13:111299462-111299512	PFSK-1	brain:	n/a
20	chr13:111291685-111291735	HepG2	liver:	n/a
21	chr13:111330699-111330749	HEK293	kidney:	embryo
22	chr13:111303244-111303294	LNCaP	prostate:	n/a
23	chr13:111291685-111291735	A549	lung:	n/a
24	chr13:111330434-111330484	NHBE	bronchial:	n/a
25	chr13:111301317-111301367	ovcar-3	ovarian:	n/a
26	chr13:111314707-111314757	HUVEC	blood vessel:	n/a
27	chr13:111303789-111303839	A549	lung:	n/a
28	chr13:111318555-111318605	Hepatocyte	liver:	n/a
29	chr13:111318640-111318690	SK-N-MC	brain:	n/a
30	chr13:111289041-111289091	NHBE	bronchial:	n/a
31	chr13:111303789-111303839	AoSMC	blood vessel:	n/a
32	chr13:111331324-111331374	Hepatocyte	liver:	n/a
33	chr13:111288032-111288082	GM12878	blood:	n/a
34	chr13:111331255-111331305	AG10803	skin:	n/a
35	chr13:111291582-111291632	U87	brain:	n/a
36	chr13:111293846-111293896	K562	blood:	n/a
37	chr13:111329221-111329271	Jurkat	blood:	n/a
38	chr13:111305863-111305913	MCF-7	breast:	n/a
39	chr13:111288822-111288872	HCPEpiC	choroid plexus:	n/a
40	chr13:111301379-111301429	A549	lung:	n/a
41	chr13:111295728-111295778	AG09309	skin:	n/a
42	chr13:111295081-111295131	HCT-116	colon:	n/a
43	chr13:111318640-111318690	HCPEpiC	choroid plexus:	n/a
44	chr13:111285565-111285615	HRE	kidney:	n/a
45	chr13:111288438-111288488	HL-60	blood:	n/a
46	chr13:111290755-111290805	GM12878	blood:	n/a
47	chr13:111291582-111291632	Caco-2	colon:	n/a
48	chr13:111291685-111291735	HEK293	kidney:	embryo
49	chr13:111334467-111334517	AoSMC	blood vessel:	n/a
50	chr13:111331255-111331305	Caco-2	colon:	n/a

(count:89 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr13:111293993..111296064-chr13:111303671..111305521,2	K562	blood:
2	chr13:111304729..111307376-chr13:111307813..111310341,2	K562	blood:
3	chr13:111280819..111283163-chr13:111298869..111301563,3	K562	blood:
4	chr13:111341286..111343605-chr13:111352948..111355342,2	K562	blood:
5	chr13:111345499..111348039-chr13:111356467..111358973,3	K562	blood:
6	chr13:111287671..111291034-chr13:111291640..111294816,4	MCF-7	breast:
7	chr13:111344285..111345813-chr13:111363151..111365831,2	MCF-7	breast:
8	chr13:111280796..111283636-chr13:111367642..111369332,2	K562	blood:
9	chr13:111338558..111340999-chr13:111366379..111367908,2	MCF-7	breast:
10	chr13:111305324..111306927-chr13:111562816..111565000,2	MCF-7	breast:
11	chr13:111287003..111289809-chr13:111566070..111568939,2	K562	blood:
12	chr13:111339506..111342066-chr13:111350294..111353169,2	MCF-7	breast:
13	chr13:111334321..111336628-chr13:111364897..111367415,3	MCF-7	breast:
14	chr13:111280819..111283163-chr13:111298869..111301563,3	K562	blood:
15	chr13:111295643..111300120-chr13:111365518..111369026,8	MCF-7	breast:
16	chr13:111294769..111296453-chr13:111366037..111368687,3	K562	blood:
17	chr13:111300583..111303510-chr13:111304221..111307506,4	K562	blood:
18	chr13:111301542..111303222-chr13:111306066..111307646,2	MCF-7	breast:
19	chr13:111320304..111323011-chr13:111365996..111367898,2	K562	blood:
20	chr13:111303184..111305252-chr13:111363759..111366267,2	MCF-7	breast:
21	chr13:111299129..111300874-chr13:111356502..111358469,2	K562	blood:
22	chr13:111267955..111269613-chr13:111288415..111289925,2	K562	blood:
23	chr13:111339852..111341870-chr13:111364379..111365979,2	K562	blood:
24	chr13:111319875..111322001-chr13:111366343..111369154,2	MCF-7	breast:
25	chr13:111266944..111268705-chr13:111296076..111298471,2	K562	blood:
26	chr13:111300583..111303510-chr13:111304221..111307506,4	K562	blood:
27	chr13:111292549..111296522-chr13:111365011..111368169,4	MCF-7	breast:
28	chr13:111308870..111310970-chr13:111364817..111367512,2	MCF-7	breast:
29	chr13:111277332..111280156-chr13:111289105..111290945,2	MCF-7	breast:
30	chr13:111289947..111291840-chr13:111364201..111367983,3	MCF-7	breast:
31	chr13:111281708..111283812-chr13:111291061..111293411,2	K562	blood:
32	chr13:111304729..111307376-chr13:111307813..111310341,2	K562	blood:
33	chr13:111303282..111307425-chr13:111364172..111367673,6	MCF-7	breast:
34	chr13:111332786..111335109-chr13:111356617..111359801,4	MCF-7	breast:
35	chr13:111286170..111289373-chr13:111362877..111366767,3	K562	blood:
36	chr13:111294769..111302902-chr13:111363368..111369699,14	K562	blood:
37	chr13:111292709..111295545-chr13:111300565..111303424,2	MCF-7	breast:
38	chr13:111331059..111333327-chr13:111365310..111368139,4	MCF-7	breast:
39	chr13:111330512..111332280-chr13:111367075..111369007,2	K562	blood:
40	chr13:111339867..111342003-chr13:111356640..111358659,2	MCF-7	breast:
41	chr10:124768484..124768999-chr13:111291105..111291975,2	NB4	blood:
42	chr13:111299374..111301363-chr13:111356502..111358209,2	K562	blood:
43	chr13:111335534..111341041-chr13:111341252..111346282,8	K562	blood:
44	chr13:111284778..111286525-chr13:111522479..111525295,2	K562	blood:
45	chr13:111328800..111332502-chr13:111363272..111367932,6	K562	blood:
46	chr13:111314783..111317177-chr13:111319064..111320921,2	K562	blood:
47	chr13:111297109..111298768-chr13:111365572..111368457,2	K562	blood:
48	chr13:111266587..111269411-chr13:111303946..111305704,2	K562	blood:
49	chr13:111292910..111295041-chr13:111296553..111298081,2	MCF-7	breast:
50	chr13:111331878..111333857-chr13:111363101..111365113,2	MCF-7	breast:

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

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

No data

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

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
ENSG00000134905	chromatin interactions
ENSG00000088448	chromatin interactions
ENSG00000153487	chromatin interactions
ENSG00000255831	chromatin interactions
ENSG00000213995	chromatin interactions
ENSG00000161847	chromatin interactions
ENSG00000196177	chromatin interactions

Extended variants
information (count: 3194 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:3194 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536044678	chr13:111282193-111282194	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs554406643	chr13:111282197-111282198	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs566449583	chr13:111282198-111282199	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs533920196	chr13:111282219-111282220	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs118003130	chr13:111282220-111282221	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs577268300	chr13:111282235-111282236	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs537908252	chr13:111282265-111282266	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs562197492	chr13:111282310-111282311	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs376437422	chr13:111282352-111282353	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs147716532	chr13:111282361-111282362	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs556627857	chr13:111282375-111282376	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs575052740	chr13:111282421-111282422	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs146750557	chr13:111282430-111282431	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs140042422	chr13:111282437-111282438	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs143608828	chr13:111282438-111282439	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs151240983	chr13:111282562-111282563	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs564774649	chr13:111282606-111282607	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs4771701	chr13:111282609-111282610	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs55949519	chr13:111282618-111282619	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs185279836	chr13:111282621-111282622	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs371107984	chr13:111282622-111282623	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs190160854	chr13:111282634-111282635	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs36093837	chr13:111282650-111282651	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs548007641	chr13:111282654-111282655	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs566422790	chr13:111282671-111282672	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs201060235	chr13:111282677-111282678	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs35705657	chr13:111282692-111282693	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs563017613	chr13:111282708-111282709	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs533882504	chr13:111282720-111282721	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs7322067	chr13:111282749-111282750	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs376657303	chr13:111282751-111282752	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs369703740	chr13:111282795-111282796	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs538254224	chr13:111282809-111282810	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs556354377	chr13:111282817-111282818	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs150418471	chr13:111282818-111282819	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs536043465	chr13:111282853-111282854	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs9583517	chr13:111282869-111282870	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs572772586	chr13:111282935-111282936	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs533263416	chr13:111282963-111282964	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs182329780	chr13:111282975-111282976	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs564810333	chr13:111282978-111282979	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs11841212	chr13:111283064-111283065	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs544213998	chr13:111283096-111283097	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs142514926	chr13:111283114-111283115	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs186372706	chr13:111283134-111283135	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs146913390	chr13:111283158-111283159	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs559871919	chr13:111283178-111283179	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs574014815	chr13:111283192-111283193	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs200654379	chr13:111283257-111283258	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs9588210	chr13:111283273-111283274	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Hepatocellular carcinoma	22267523	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:2394 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

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	chr13:111270400-111282800	Weak transcription	Fetal Kidney	kidney
5	chr13:111270800-111296800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr13:111271200-111287000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr13:111274400-111284400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr13:111274600-111282200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr13:111274600-111282200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr13:111274600-111282400	Strong transcription	NHLF	lung
11	chr13:111274600-111283600	Strong transcription	Thymus	Thymus
12	chr13:111274600-111284200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr13:111274600-111284200	Strong transcription	Adipose Nuclei	Adipose
14	chr13:111274600-111284200	Strong transcription	Duodenum Mucosa	Duodenum
15	chr13:111274600-111284400	Strong transcription	Placenta	Placenta
16	chr13:111274600-111284400	Strong transcription	Dnd41	blood
17	chr13:111274600-111285000	Strong transcription	Primary B cells from peripheral blood	blood
18	chr13:111274800-111284000	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr13:111274800-111284200	Strong transcription	Primary T cells from cord blood	blood
20	chr13:111274800-111284400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr13:111274800-111284400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr13:111275600-111287400	Weak transcription	K562	blood
23	chr13:111276000-111286000	Weak transcription	HUVEC	blood vessel
24	chr13:111276000-111286200	Weak transcription	A549	lung
25	chr13:111277000-111282400	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr13:111277000-111284200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr13:111277800-111283000	Weak transcription	Hela-S3	cervix
28	chr13:111277800-111284400	Strong transcription	Fetal Muscle Leg	muscle
29	chr13:111277800-111286800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr13:111278000-111286600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr13:111278000-111286600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr13:111278200-111283600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr13:111278200-111286800	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr13:111278400-111284200	Strong transcription	Fetal Muscle Trunk	muscle
35	chr13:111278400-111287200	Weak transcription	Small Intestine	intestine
36	chr13:111278600-111286800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr13:111278800-111285200	Strong transcription	Fetal Intestine Small	intestine
38	chr13:111279200-111284200	Strong transcription	Lung	lung
39	chr13:111279200-111285000	Strong transcription	Fetal Intestine Large	intestine
40	chr13:111279400-111282400	Strong transcription	Fetal Lung	lung
41	chr13:111279400-111283600	Strong transcription	HepG2	liver
42	chr13:111279400-111284600	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr13:111279600-111284200	Strong transcription	Fetal Thymus	thymus
44	chr13:111279600-111284800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr13:111279600-111286800	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr13:111279600-111286800	Weak transcription	Stomach Mucosa	stomach
47	chr13:111279800-111282400	Strong transcription	Colonic Mucosa	Colon
48	chr13:111279800-111282400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
49	chr13:111279800-111283600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr13:111279800-111283600	Genic enhancers	Gastric	stomach

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