Variant report

Variant	nsv832168
Chromosome Location	chr11:58394060-58564651
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2502)
CpG islands
(count:672)
Chromatin interactive
region (count:94)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:2502 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:58539357-58539557	K562	blood:	n/a	n/a
2	ARID3A	chr11:58537620-58537935	K562	blood:	n/a	n/a
3	ARID3A	chr11:58421558-58421758	HepG2	liver:	n/a	n/a
4	ARID3A	chr11:58541793-58542131	K562	blood:	n/a	n/a
5	ARID3A	chr11:58511006-58511441	K562	blood:	n/a	n/a
6	ARID3A	chr11:58494499-58494904	K562	blood:	n/a	n/a
7	ARID3A	chr11:58544320-58544736	K562	blood:	n/a	n/a
8	ARID3A	chr11:58538249-58538649	K562	blood:	n/a	n/a
9	ARID3A	chr11:58529753-58530625	HepG2	liver:	n/a	chr11:58530557-58530573 chr11:58530596-58530612
10	ARID3A	chr11:58555898-58556206	K562	blood:	n/a	n/a
11	ARID3A	chr11:58531947-58532147	K562	blood:	n/a	n/a
12	ARID3A	chr11:58512868-58514002	K562	blood:	n/a	n/a
13	ARID3A	chr11:58507269-58507354	K562	blood:	n/a	n/a
14	ATF1	chr11:58544343-58544716	K562	blood:	n/a	n/a
15	ATF1	chr11:58541771-58542006	K562	blood:	n/a	n/a
16	ATF1	chr11:58538250-58538779	K562	blood:	n/a	n/a
17	ATF1	chr11:58479287-58479599	K562	blood:	n/a	n/a
18	ATF1	chr11:58537653-58537949	K562	blood:	n/a	n/a
19	ATF1	chr11:58513252-58513919	K562	blood:	n/a	n/a
20	ATF1	chr11:58507205-58507478	K562	blood:	n/a	n/a
21	ATF1	chr11:58555827-58556233	K562	blood:	n/a	n/a
22	ATF1	chr11:58494581-58494997	K562	blood:	n/a	n/a
23	ATF2	chr11:58414456-58415252	GM12878	blood:	n/a	n/a
24	ATF2	chr11:58414540-58415283	GM12878	blood:	n/a	n/a
25	ATF2	chr11:58542649-58543207	GM12878	blood:	n/a	n/a
26	ATF3	chr11:58555952-58556165	K562	blood:	n/a	n/a
27	ATF3	chr11:58538300-58538666	K562	blood:	n/a	n/a
28	ATF3	chr11:58443095-58443255	K562	blood:	n/a	n/a
29	ATF3	chr11:58555887-58556150	K562	blood:	n/a	n/a
30	BACH1	chr11:58397606-58397654	K562	blood:	n/a	n/a
31	BACH1	chr11:58544587-58544608	K562	blood:	n/a	n/a
32	BACH1	chr11:58541528-58542135	K562	blood:	n/a	n/a
33	BACH1	chr11:58545467-58545513	K562	blood:	n/a	n/a
34	BACH1	chr11:58554173-58554519	K562	blood:	n/a	n/a
35	BACH1	chr11:58513073-58513273	K562	blood:	n/a	n/a
36	BATF	chr11:58509629-58509956	GM12878	blood:	n/a	n/a
37	BATF	chr11:58542744-58543140	GM12878	blood:	n/a	n/a
38	BATF	chr11:58552466-58552804	GM12878	blood:	n/a	n/a
39	BATF	chr11:58509652-58509970	GM12878	blood:	n/a	n/a
40	BATF	chr11:58542759-58543208	GM12878	blood:	n/a	n/a
41	BATF	chr11:58513628-58513904	GM12878	blood:	n/a	n/a
42	BATF	chr11:58414606-58415288	GM12878	blood:	n/a	n/a
43	BATF	chr11:58552489-58552838	GM12878	blood:	n/a	n/a
44	BATF	chr11:58414703-58415208	GM12878	blood:	n/a	n/a
45	BCL11A	chr11:58509694-58509971	GM12878	blood:	n/a	n/a
46	BCL11A	chr11:58414652-58415247	GM12878	blood:	n/a	n/a
47	BCL11A	chr11:58542801-58543149	GM12878	blood:	n/a	n/a
48	BCL11A	chr11:58414626-58415247	GM12878	blood:	n/a	n/a
49	BCL3	chr11:58437259-58437685	GM12878	blood:	n/a	n/a
50	BCL3	chr11:58414614-58415068	GM12878	blood:	n/a	n/a

(count:672 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:58500455-58500505	AG10803	skin:	n/a
2	chr11:58500455-58500505	AG10803	skin:	n/a
3	chr11:58500455-58500505	PANC-1	pancreas:	n/a
4	chr11:58494370-58494420	GM19239	blood:	n/a
5	chr11:58477085-58477135	H1-hESC	embryonic stem cell:	embryo
6	chr11:58499533-58499583	HRE	kidney:	n/a
7	chr11:58499533-58499583	HCT-116	colon:	n/a
8	chr11:58500455-58500505	T-47D	breast:	n/a
9	chr11:58477085-58477135	LNCaP	prostate:	n/a
10	chr11:58400854-58400904	PrEC	prostate:	n/a
11	chr11:58494370-58494420	Jurkat	blood:	n/a
12	chr11:58494370-58494420	GM12878	blood:	n/a
13	chr11:58395628-58395678	HRPEpiC	eye:	n/a
14	chr11:58477085-58477135	Jurkat	blood:	n/a
15	chr11:58483730-58483780	Hepatocyte	liver:	n/a
16	chr11:58483730-58483780	AoSMC	blood vessel:	n/a
17	chr11:58395628-58395678	MCF-7	breast:	n/a
18	chr11:58477379-58477429	SK-N-SH_RA	brain:	n/a
19	chr11:58494370-58494420	HEEpiC	esophagus:	n/a
20	chr11:58499533-58499583	BE2_C	brain:	n/a
21	chr11:58500021-58500071	SAEC	small airway:	n/a
22	chr11:58499409-58499459	RPTEC	kidney:	n/a
23	chr11:58477085-58477135	NHDF-neo	bronchial:	n/a
24	chr11:58400854-58400904	BE2_C	brain:	n/a
25	chr11:58420680-58420730	NH-A	brain:	n/a
26	chr11:58420680-58420730	PFSK-1	brain:	n/a
27	chr11:58483730-58483780	NH-A	brain:	n/a
28	chr11:58477379-58477429	MCF10A-Er-Src	breast:	n/a
29	chr11:58400854-58400904	HCPEpiC	choroid plexus:	n/a
30	chr11:58494370-58494420	HCM	heart:	n/a
31	chr11:58494370-58494420	ProgFib	skin:	n/a
32	chr11:58395628-58395678	Hepatocyte	liver:	n/a
33	chr11:58400854-58400904	GM06990	blood:	n/a
34	chr11:58499533-58499583	HUVEC	blood vessel:	n/a
35	chr11:58494370-58494420	AG09309	skin:	n/a
36	chr11:58483730-58483780	HL-60	blood:	n/a
37	chr11:58483730-58483780	HepG2	liver:	n/a
38	chr11:58494370-58494420	BJ	skin:	n/a
39	chr11:58477085-58477135	AG09309	skin:	n/a
40	chr11:58477085-58477135	HNPCEpiC	eye:	n/a
41	chr11:58420680-58420730	HCF	heart:	n/a
42	chr11:58500021-58500071	ECC-1	luminal epithelium:	n/a
43	chr11:58500455-58500505	K562	blood:	n/a
44	chr11:58494370-58494420	HRPEpiC	eye:	n/a
45	chr11:58499533-58499583	SK-N-SH_RA	brain:	n/a
46	chr11:58499409-58499459	HRE	kidney:	n/a
47	chr11:58499409-58499459	HEK293	kidney:	embryo
48	chr11:58500021-58500071	Hepatocyte	liver:	n/a
49	chr11:58400854-58400904	AG04450	lung:	fetal
50	chr11:58420680-58420730	HPAEpiC	pulmonary alveolar:	n/a

(count:94 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:58546256..58548670-chr11:58549514..58551227,2	K562	blood:
2	chr11:58344606..58345552-chr11:58442971..58443635,2	K562	blood:
3	chr11:58421221..58422040-chr11:58442879..58443634,3	MCF-7	breast:
4	chr11:58421175..58421959-chr11:58555571..58556541,3	MCF-7	breast:
5	chr11:58335102..58336073-chr11:58397057..58397758,3	K562	blood:
6	chr11:58309862..58312416-chr11:58401344..58403309,2	K562	blood:
7	chr11:58344656..58347386-chr11:58396033..58399081,4	K562	blood:
8	chr11:58421187..58422454-chr11:58442760..58443739,3	MCF-7	breast:
9	chr11:58344844..58347176-chr11:58392286..58394519,2	K562	blood:
10	chr11:58335090..58336072-chr11:58555654..58556534,3	K562	blood:
11	chr1:149213382..149215537-chr11:58543195..58544714,2	MCF-7	breast:
12	chr11:58421187..58422454-chr11:58442760..58443739,3	MCF-7	breast:
13	chr11:58530284..58532765-chr11:58534043..58536278,2	K562	blood:
14	chr11:58504167..58506937-chr11:58509438..58511944,2	K562	blood:
15	chr11:58513430..58516648-chr11:58544097..58546491,4	K562	blood:
16	chr11:58396664..58398524-chr11:58408556..58410829,2	K562	blood:
17	chr11:58551491..58553930-chr11:58557459..58559749,2	K562	blood:
18	chr11:58539643..58542298-chr11:58554397..58556445,2	K562	blood:
19	chr11:58469853..58471664-chr11:58475530..58477386,2	K562	blood:
20	chr11:58512569..58514471-chr11:58539113..58540674,2	K562	blood:
21	chr11:58488336..58491210-chr11:58491852..58494782,2	K562	blood:
22	chr11:58512630..58515481-chr11:68881211..68883922,2	MCF-7	breast:
23	chr11:58386568..58389944-chr11:58391542..58395484,7	K562	blood:
24	chr11:58397520..58400716-chr11:58402056..58406653,5	K562	blood:
25	chr11:58376475..58380283-chr11:58392724..58395037,3	K562	blood:
26	chr11:58345996..58348302-chr11:58399595..58402081,2	MCF-7	breast:
27	chr11:58342748..58344272-chr11:58413170..58414792,2	K562	blood:
28	chr11:58391033..58393588-chr11:58395119..58397288,2	MCF-7	breast:
29	chr11:58455564..58457856-chr11:58460321..58462093,2	K562	blood:
30	chr11:58488336..58491210-chr11:58491852..58494782,2	K562	blood:
31	chr11:58344812..58347551-chr11:58552824..58556823,4	K562	blood:
32	chr11:58344069..58346210-chr11:58507261..58510600,3	K562	blood:
33	chr11:58345323..58347198-chr11:58413010..58415739,2	K562	blood:
34	chr11:58396664..58398524-chr11:58408556..58410829,2	K562	blood:
35	chr11:58343949..58346815-chr11:58430372..58432698,2	K562	blood:
36	chr11:58492036..58493774-chr11:58500571..58503538,2	K562	blood:
37	chr11:58402145..58403700-chr11:58406157..58408220,2	K562	blood:
38	chr11:58403712..58404296-chr11:58442788..58443644,2	MCF-7	breast:
39	chr11:58399679..58402149-chr11:58838160..58840024,2	K562	blood:
40	chr11:58492036..58493774-chr11:58500571..58503538,2	K562	blood:
41	chr11:58534531..58540413-chr11:58541939..58546893,7	K562	blood:
42	chr11:58345133..58347436-chr11:58512907..58514967,3	K562	blood:
43	chr11:58539643..58542298-chr11:58554397..58556445,2	K562	blood:
44	chr11:58469853..58471664-chr11:58475530..58477386,2	K562	blood:
45	chr11:58551491..58553930-chr11:58557459..58559749,2	K562	blood:
46	chr11:58397577..58400348-chr11:58551728..58554179,2	K562	blood:
47	chr11:58516354..58518194-chr11:58526636..58529153,2	K562	blood:
48	chr11:58507981..58510600-chr11:58513137..58516099,3	K562	blood:
49	chr11:58507981..58510600-chr11:58513137..58516099,3	K562	blood:
50	chr11:58395680..58396185-chr11:58403814..58404411,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GLYATL2-6	chr11:58491708-58491984	NONHSAT021481
2	lnc-CNTF-2	chr11:58394908-58396001	NONHSAT021478
3	lnc-GLYATL2-3	chr11:58563710-58564327	NONHSAT021482
4	lnc-GLYATL2-6	chr11:58499308-58499401	NONHSAT021481

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	GLYAT	hsa-miR-30a-5p	chr11:58476269-58476290
2	GLYAT	hsa-miR-30b-5p	chr11:58476269-58476289

Variant related genes	Relation type
ENSG00000265783	TF binding region
ENSG00000197254	TF binding region
TMA16P1	TF binding region
ENSG00000254926	TF binding region
GLYAT	TF binding region
ENSG00000265783	CpG island
ENSG00000197254	CpG island
TMA16P1	CpG island
ENSG00000254926	CpG island
GLYAT	CpG island
ENSG00000149124	chromatin interactions
ENSG00000254926	chromatin interactions
ENSG00000110031	chromatin interactions
ENSG00000269570	chromatin interactions
ENSG00000252826	chromatin interactions
ENSG00000197254	chromatin interactions
ENSG00000255073	chromatin interactions
ENSG00000242689	chromatin interactions
ENSG00000186660	chromatin interactions

Extended variants
information (count: 5408 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:5408 , 50 per page) page: 1 2 3 4 5 6 7 ... 109

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183489375	chr11:58394075-58394076	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs397974697	chr11:58394153-58394154	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs550942	chr11:58394154-58394155	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs141725555	chr11:58394173-58394174	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs538506226	chr11:58394180-58394181	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs560582790	chr11:58394193-58394194	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs553568917	chr11:58394248-58394249	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs572180399	chr11:58394251-58394252	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs10896796	chr11:58394256-58394257	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs189390382	chr11:58394295-58394296	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs377435103	chr11:58394328-58394329	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs146284504	chr11:58394335-58394336	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs554405881	chr11:58394352-58394353	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs112090488	chr11:58394420-58394421	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs12295771	chr11:58394465-58394466	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs192384640	chr11:58394504-58394505	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs138084277	chr11:58394548-58394549	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs560549051	chr11:58394604-58394605	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs527868340	chr11:58394605-58394606	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs76791362	chr11:58394606-58394607	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs113690926	chr11:58394638-58394639	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs567350306	chr11:58394718-58394719	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs531263322	chr11:58394725-58394726	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs549377034	chr11:58394784-58394785	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs184437095	chr11:58394854-58394855	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs190189700	chr11:58394859-58394860	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs181442814	chr11:58394872-58394873	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs553628759	chr11:58394970-58394971	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
29	rs186544368	chr11:58394977-58394978	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
30	rs536438957	chr11:58394981-58394982	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
31	rs555627818	chr11:58394994-58394995	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
32	rs574087123	chr11:58395006-58395007	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
33	rs17568220	chr11:58395023-58395024	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs372439588	chr11:58395035-58395036	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
35	rs149524989	chr11:58395054-58395055	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs189393984	chr11:58395079-58395080	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs180922914	chr11:58395112-58395113	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs185197571	chr11:58395176-58395177	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs2507763	chr11:58395191-58395192	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs191134850	chr11:58395221-58395222	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs80031672	chr11:58395266-58395267	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs561286163	chr11:58395294-58395295	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs566299604	chr11:58395334-58395335	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs531322604	chr11:58395370-58395371	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs373949043	chr11:58395510-58395511	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs549440462	chr11:58395528-58395529	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs564569624	chr11:58395537-58395538	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs369491140	chr11:58395548-58395549	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs374434101	chr11:58395579-58395580	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs376399346	chr11:58395580-58395581	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	20067559	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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

Chromatin state (count:813 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58376600-58395800	Strong transcription	Fetal Thymus	thymus
2	chr11:58376600-58396200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:58376800-58395200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr11:58376800-58395600	Strong transcription	Dnd41	blood
5	chr11:58377000-58394600	Strong transcription	K562	blood
6	chr11:58377200-58394400	Strong transcription	A549	lung
7	chr11:58377200-58394600	Strong transcription	H1 Cell Line	embryonic stem cell
8	chr11:58377200-58394800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr11:58377200-58394800	Strong transcription	Fetal Muscle Trunk	muscle
10	chr11:58377200-58397200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:58377400-58394600	Strong transcription	Primary hematopoietic stem cells	blood
12	chr11:58377400-58394600	Strong transcription	Fetal Intestine Large	intestine
13	chr11:58377400-58394800	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr11:58377400-58394800	Strong transcription	Duodenum Mucosa	Duodenum
15	chr11:58377400-58395200	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr11:58377600-58395200	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr11:58379000-58394600	Strong transcription	Fetal Muscle Leg	muscle
18	chr11:58381400-58395000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr11:58385200-58394200	Strong transcription	Placenta	Placenta
20	chr11:58385200-58397000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:58385600-58400400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr11:58386800-58400000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr11:58388000-58394400	Weak transcription	Fetal Heart	heart
24	chr11:58388600-58395200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr11:58388800-58394600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr11:58389800-58394600	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr11:58390000-58394600	Strong transcription	Primary T cells from cord blood	blood
28	chr11:58390000-58395200	Strong transcription	GM12878-XiMat	blood
29	chr11:58391800-58394600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:58391800-58397400	Genic enhancers	HSMM	muscle
31	chr11:58392000-58394400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr11:58392000-58394600	Weak transcription	HepG2	liver
33	chr11:58392000-58394800	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr11:58392000-58396000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:58392000-58397000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:58392000-58406000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr11:58392200-58394400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr11:58392200-58394400	Weak transcription	Small Intestine	intestine
39	chr11:58392200-58394600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr11:58392200-58394600	Genic enhancers	Muscle Satellite Cultured Cells	--
41	chr11:58392200-58394600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr11:58392200-58394800	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr11:58392200-58394800	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr11:58392200-58394800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr11:58392200-58397600	Weak transcription	Esophagus	oesophagus
46	chr11:58392200-58399200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr11:58392200-58400800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr11:58392400-58394200	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr11:58392400-58394400	Weak transcription	HUVEC	blood vessel
50	chr11:58392400-58395400	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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