Variant report

Variant	nsv556430
Chromosome Location	chr11:108097333-108175462
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:300)
CpG islands
(count:489)
Chromatin interactive
region (count:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:300 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:108104471-108105043	HepG2	liver:	n/a	n/a
2	ATF2	chr11:108107218-108108114	GM12878	blood:	n/a	n/a
3	ATF2	chr11:108107215-108108207	GM12878	blood:	n/a	n/a
4	ATF3	chr11:108104415-108104593	HepG2	liver:	n/a	n/a
5	BATF	chr11:108173186-108173421	GM12878	blood:	n/a	chr11:108173295-108173306
6	BATF	chr11:108107391-108107690	GM12878	blood:	n/a	n/a
7	BATF	chr11:108173229-108173418	GM12878	blood:	n/a	chr11:108173295-108173306
8	BATF	chr11:108107432-108107708	GM12878	blood:	n/a	n/a
9	BCL11A	chr11:108173189-108173416	GM12878	blood:	n/a	n/a
10	BCL11A	chr11:108107324-108107964	GM12878	blood:	n/a	n/a
11	BCL11A	chr11:108173216-108173417	GM12878	blood:	n/a	n/a
12	BCL3	chr11:108107359-108107651	GM12878	blood:	n/a	n/a
13	BCLAF1	chr11:108107025-108107695	GM12878	blood:	n/a	n/a
14	BCLAF1	chr11:108106880-108108297	GM12878	blood:	n/a	n/a
15	BHLHE40	chr11:108173188-108173386	GM12878	blood:	n/a	n/a
16	BHLHE40	chr11:108107324-108108239	GM12878	blood:	n/a	n/a
17	CEBPB	chr11:108116426-108116793	HepG2	liver:	n/a	n/a
18	CEBPB	chr11:108107433-108107698	GM12878	blood:	n/a	n/a
19	CEBPB	chr11:108162032-108162301	K562	blood:	n/a	n/a
20	CEBPB	chr11:108117640-108117955	HepG2	liver:	n/a	chr11:108117792-108117803
21	CEBPB	chr11:108109506-108109885	HepG2	liver:	n/a	chr11:108109614-108109625
22	CEBPB	chr11:108117630-108117953	IMR90	lung:	n/a	chr11:108117792-108117803
23	CEBPB	chr11:108109597-108109742	K562	blood:	n/a	chr11:108109614-108109625
24	CEBPB	chr11:108109600-108109781	A549	lung:	n/a	chr11:108109614-108109625
25	CEBPB	chr11:108117647-108117961	K562	blood:	n/a	chr11:108117792-108117803
26	CEBPB	chr11:108108521-108108538	K562	blood:	n/a	n/a
27	CEBPB	chr11:108117722-108117911	H1-hESC	embryonic stem cell:	n/a	chr11:108117792-108117803
28	CEBPB	chr11:108162015-108162298	IMR90	lung:	n/a	n/a
29	CEBPB	chr11:108117653-108117963	A549	lung:	n/a	chr11:108117792-108117803
30	CEBPB	chr11:108116537-108116628	K562	blood:	n/a	n/a
31	CEBPB	chr11:108116502-108116702	A549	lung:	n/a	n/a
32	CEBPB	chr11:108117725-108117934	Hela-S3	cervix:	n/a	chr11:108117792-108117803
33	CEBPB	chr11:108107175-108108126	GM12878	blood:	n/a	n/a
34	CEBPB	chr11:108173171-108173440	IMR90	lung:	n/a	n/a
35	CEBPB	chr11:108116509-108116644	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD1	chr11:108107307-108108230	GM12878	blood:	n/a	n/a
37	CREB1	chr11:108112111-108112800	GM12878	blood:	n/a	n/a
38	CTCF	chr11:108107104-108107163	GM10248	blood:	n/a	n/a
39	CTCF	chr11:108114254-108114304	Lung_OC	lung:	n/a	n/a
40	CTCF	chr11:108112435-108112541	GM10248	blood:	n/a	n/a
41	CTCF	chr11:108104120-108104270	HAc	cerebellar:	n/a	n/a
42	CTCF	chr11:108099080-108099230	AG09319	gingival:	n/a	n/a
43	CTCF	chr11:108121800-108121950	HepG2	liver:	n/a	n/a
44	CTCF	chr11:108159020-108159170	HRE	kidney:	n/a	n/a
45	CTCF	chr11:108158596-108158790	GM12878	blood:	n/a	chr11:108158701-108158722 chr11:108158707-108158723 chr11:108158706-108158724
46	CTCF	chr11:108154480-108154630	Caco-2	colon:	n/a	n/a
47	CUX1	chr11:108107431-108108210	GM12878	blood:	n/a	n/a
48	E2F4	chr11:108116242-108116369	MCF10A-Er-Src	breast:	n/a	n/a
49	E2F4	chr11:108109564-108109599	MCF10A-Er-Src	breast:	n/a	n/a
50	EBF1	chr11:108107706-108108078	GM12878	blood:	n/a	chr11:108107864-108107877 chr11:108107865-108107875 chr11:108107864-108107875

(count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:108158382-108158432	HRCEpiC	kidney:	n/a
2	chr11:108158382-108158432	HRCEpiC	kidney:	n/a
3	chr11:108158382-108158432	BJ	skin:	n/a
4	chr11:108158382-108158432	GM12891	blood:	n/a
5	chr11:108157498-108157548	AoSMC	blood vessel:	n/a
6	chr11:108157812-108157862	SK-N-SH	brain:	n/a
7	chr11:108157868-108157918	SK-N-SH_RA	brain:	n/a
8	chr11:108172798-108172848	SK-N-SH_RA	brain:	n/a
9	chr11:108131609-108131659	RPTEC	kidney:	n/a
10	chr11:108157868-108157918	HRE	kidney:	n/a
11	chr11:108157868-108157918	NB4	blood:	n/a
12	chr11:108157868-108157918	Caco-2	colon:	n/a
13	chr11:108157812-108157862	AG09319	gingival:	n/a
14	chr11:108157498-108157548	K562	blood:	n/a
15	chr11:108172798-108172848	AG10803	skin:	n/a
16	chr11:108158382-108158432	ovcar-3	ovarian:	n/a
17	chr11:108157812-108157862	ProgFib	skin:	n/a
18	chr11:108158382-108158432	HEEpiC	esophagus:	n/a
19	chr11:108157498-108157548	AG04449	skin:	fetal
20	chr11:108149307-108149357	SK-N-SH_RA	brain:	n/a
21	chr11:108157868-108157918	HepG2	liver:	n/a
22	chr11:108157868-108157918	HPAEpiC	pulmonary alveolar:	n/a
23	chr11:108149307-108149357	AG04450	lung:	fetal
24	chr11:108172798-108172848	MCF-7	breast:	n/a
25	chr11:108157812-108157862	HCPEpiC	choroid plexus:	n/a
26	chr11:108157868-108157918	ovcar-3	ovarian:	n/a
27	chr11:108172798-108172848	HAEpiC	amniotic membrane:	n/a
28	chr11:108172798-108172848	NB4	blood:	n/a
29	chr11:108157498-108157548	HEEpiC	esophagus:	n/a
30	chr11:108172798-108172848	BE2_C	brain:	n/a
31	chr11:108149307-108149357	GM06990	blood:	n/a
32	chr11:108157428-108157478	MCF10A-Er-Src	breast:	n/a
33	chr11:108157428-108157478	NHBE	bronchial:	n/a
34	chr11:108131609-108131659	AG04450	lung:	fetal
35	chr11:108157868-108157918	ProgFib	skin:	n/a
36	chr11:108157812-108157862	H1-hESC	embryonic stem cell:	embryo
37	chr11:108157428-108157478	HCM	heart:	n/a
38	chr11:108149307-108149357	GM12892	blood:	n/a
39	chr11:108157812-108157862	HAEpiC	amniotic membrane:	n/a
40	chr11:108172798-108172848	HEEpiC	esophagus:	n/a
41	chr11:108131609-108131659	HPAEpiC	pulmonary alveolar:	n/a
42	chr11:108157498-108157548	U87	brain:	n/a
43	chr11:108131609-108131659	U87	brain:	n/a
44	chr11:108157428-108157478	HEEpiC	esophagus:	n/a
45	chr11:108157868-108157918	A549	lung:	n/a
46	chr11:108131609-108131659	AoSMC	blood vessel:	n/a
47	chr11:108157428-108157478	T-47D	breast:	n/a
48	chr11:108149307-108149357	HPAEpiC	pulmonary alveolar:	n/a
49	chr11:108158382-108158432	HAEpiC	amniotic membrane:	n/a
50	chr11:108157868-108157918	AG10803	skin:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr11:108092760..108095657-chr11:108096566..108100675,5	MCF-7	breast:
2	chr11:108090058..108092133-chr11:108101877..108104641,2	K562	blood:
3	chr11:108070782..108073415-chr11:108095744..108098057,2	MCF-7	breast:
4	chr11:108093607..108098073-chr11:108103597..108106614,4	K562	blood:
5	chr11:108124165..108125680-chr11:108126774..108128803,2	K562	blood:
6	chr11:108105917..108107991-chr11:108115089..108117555,3	K562	blood:
7	chr11:107878756..107880670-chr11:108096496..108098082,2	MCF-7	breast:
8	chr11:108114532..108116350-chr11:108118215..108120268,2	K562	blood:
9	chr11:108098561..108100343-chr11:108100494..108102517,2	K562	blood:
10	chr11:108122703..108124366-chr11:108126640..108129579,2	K562	blood:
11	chr11:108114532..108116350-chr11:108118215..108120268,2	K562	blood:
12	chr11:108090010..108092398-chr11:108154692..108157090,2	K562	blood:
13	chr11:107878690..107880748-chr11:108096542..108098522,2	K562	blood:
14	chr11:108089572..108092261-chr11:108170855..108173467,2	K562	blood:
15	chr11:108143540..108146436-chr11:108147074..108149154,2	MCF-7	breast:
16	chr11:108091534..108093578-chr11:108141865..108143860,2	K562	blood:
17	chr11:108096808..108099357-chr11:108117169..108119073,2	K562	blood:
18	chr11:108089780..108091711-chr11:108095775..108097725,2	MCF-7	breast:
19	chr11:108115118..108117123-chr11:108180156..108182499,2	K562	blood:
20	chr11:108105917..108107991-chr11:108115089..108117555,3	K562	blood:
21	chr11:108096808..108099357-chr11:108117169..108119073,2	K562	blood:
22	chr11:108105026..108107991-chr11:108115213..108117724,3	K562	blood:
23	chr11:108116931..108119053-chr11:108122941..108124773,2	K562	blood:
24	chr11:108099276..108102016-chr11:108102518..108104211,2	K562	blood:
25	chr11:108143540..108146436-chr11:108147074..108149154,2	MCF-7	breast:
26	chr11:108091968..108094348-chr11:108112632..108114621,2	K562	blood:
27	chr11:108092532..108097509-chr11:108106620..108109590,6	K562	blood:
28	chr11:108105026..108107991-chr11:108115213..108117724,3	K562	blood:
29	chr11:108124165..108125680-chr11:108126774..108128803,2	K562	blood:

No data

Variant related genes	Relation type
NPAT	TF binding region
ENSG00000269042	TF binding region
ENSG00000206967	TF binding region
ATM	TF binding region
NPAT	CpG island
ENSG00000269042	CpG island
ENSG00000206967	CpG island
ATM	CpG island
ENSG00000149311	chromatin interactions
ENSG00000206967	chromatin interactions
ENSG00000149308	chromatin interactions
ENSG00000166266	chromatin interactions

Extended variants
information (count: 3127 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:3127 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs228591	chr11:108097333-108097334	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs571685683	chr11:108097345-108097346	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs181461633	chr11:108097366-108097367	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs186645311	chr11:108097367-108097368	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs576582617	chr11:108097395-108097396	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs543947123	chr11:108097410-108097411	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs546003407	chr11:108097437-108097438	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs200968985	chr11:108097448-108097449	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs539706167	chr11:108097457-108097458	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs4987894	chr11:108097469-108097470	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs552921591	chr11:108097472-108097473	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs532690992	chr11:108097475-108097476	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs573017868	chr11:108097489-108097490	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs541518420	chr11:108097495-108097496	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs4987895	chr11:108097503-108097504	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs148422122	chr11:108097591-108097592	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs549031215	chr11:108097598-108097599	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs138565518	chr11:108097619-108097620	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs535612974	chr11:108097630-108097631	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs17107820	chr11:108097673-108097674	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs549990072	chr11:108097675-108097676	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs183666845	chr11:108097700-108097701	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs79211913	chr11:108097721-108097722	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs186556743	chr11:108097757-108097758	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs555581243	chr11:108097829-108097830	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs372311489	chr11:108097841-108097842	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs565351707	chr11:108097845-108097846	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs554017848	chr11:108097886-108097887	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs543881744	chr11:108097890-108097891	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs4987896	chr11:108097902-108097903	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs554965680	chr11:108097922-108097923	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs576633037	chr11:108097933-108097934	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs537331506	chr11:108098004-108098005	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs17107823	chr11:108098022-108098023	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs113597677	chr11:108098062-108098063	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs189824486	chr11:108098084-108098085	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs374282794	chr11:108098098-108098099	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs4987897	chr11:108098142-108098143	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs3218693	chr11:108098243-108098244	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs56326800	chr11:108098266-108098267	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs141376974	chr11:108098267-108098268	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs182382127	chr11:108098269-108098270	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs3218703	chr11:108098273-108098274	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs56096834	chr11:108098278-108098279	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs549786728	chr11:108098305-108098306	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs200744434	chr11:108098318-108098319	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs374303671	chr11:108098334-108098335	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs7112053	chr11:108098358-108098359	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs141586345	chr11:108098388-108098389	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs199853729	chr11:108098414-108098415	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mantle cell lymphoma	19029149	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Obesity	19966786	CNVD
Renal cell carcinoma	21668985	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	17440070	CNVD
Chordoma	18071362	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Depressive disorder	21152026	CNVD

Chromatin state (count:2482 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108091000-108097400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:108091800-108098200	Active TSS	Primary T killer memory cells from peripheral blood	blood
3	chr11:108092200-108097800	Active TSS	Thymus	Thymus
4	chr11:108094000-108098200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr11:108094200-108097600	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr11:108094200-108099000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
7	chr11:108094600-108121600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr11:108094800-108100400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:108094800-108100400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:108094800-108116000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:108094800-108147400	Weak transcription	Esophagus	oesophagus
12	chr11:108094800-108244400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:108095000-108100400	Weak transcription	Ovary	ovary
14	chr11:108095000-108121400	Weak transcription	Colonic Mucosa	Colon
15	chr11:108095200-108099000	Weak transcription	Fetal Intestine Large	intestine
16	chr11:108095200-108099000	Weak transcription	Placenta	Placenta
17	chr11:108095200-108100400	Weak transcription	Gastric	stomach
18	chr11:108095200-108106800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr11:108095400-108099000	Weak transcription	Adipose Nuclei	Adipose
20	chr11:108095400-108099000	Weak transcription	Fetal Muscle Leg	muscle
21	chr11:108095400-108099400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr11:108095400-108099800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr11:108095400-108100400	Weak transcription	Fetal Stomach	stomach
24	chr11:108095400-108103800	Weak transcription	Right Ventricle	heart
25	chr11:108095400-108119800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr11:108095600-108097800	Enhancers	HepG2	liver
27	chr11:108095600-108098400	Weak transcription	Fetal Lung	lung
28	chr11:108095600-108099000	Weak transcription	HSMMtube	muscle
29	chr11:108095600-108099200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr11:108095600-108100600	Weak transcription	Aorta	Aorta
31	chr11:108095800-108098200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:108095800-108099000	Weak transcription	NH-A	brain
33	chr11:108095800-108099400	Weak transcription	Colon Smooth Muscle	Colon
34	chr11:108095800-108100200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:108095800-108102400	Weak transcription	Fetal Kidney	kidney
36	chr11:108095800-108119800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr11:108095800-108122400	Weak transcription	Brain Angular Gyrus	brain
38	chr11:108096000-108097600	Weak transcription	HUVEC	blood vessel
39	chr11:108096000-108098400	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr11:108096000-108099200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr11:108096000-108100400	Weak transcription	NHEK	skin
42	chr11:108096000-108102600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr11:108096000-108107800	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr11:108096000-108148600	Weak transcription	Fetal Heart	heart
45	chr11:108096200-108097400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr11:108096200-108097400	Active TSS	Brain Anterior Caudate	brain
47	chr11:108096200-108097600	Transcr. at gene 5' and 3'	Dnd41	blood
48	chr11:108096200-108097800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr11:108096200-108098200	Weak transcription	Osteobl	bone
50	chr11:108096200-108098600	Weak transcription	HMEC	breast

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