Variant report

Variant	nsv897018
Chromosome Location	chr11:17403639-17417337
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1128)
CpG islands
(count:1098)
Chromatin interactive
region (count:43)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1128 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:17410820-17411224	HepG2	liver:	n/a	n/a
2	BACH1	chr11:17410766-17411304	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr11:17408310-17408505	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr11:17411299-17411438	K562	blood:	n/a	n/a
5	BCL3	chr11:17405039-17405432	GM12878	blood:	n/a	n/a
6	BHLHE40	chr11:17410753-17410977	GM12878	blood:	n/a	chr11:17410931-17410947
7	BHLHE40	chr11:17411578-17411679	K562	blood:	n/a	n/a
8	BHLHE40	chr11:17410752-17411308	K562	blood:	n/a	chr11:17410931-17410947
9	BHLHE40	chr11:17408228-17408447	K562	blood:	n/a	n/a
10	BHLHE40	chr11:17405434-17405719	K562	blood:	n/a	n/a
11	BHLHE40	chr11:17405514-17405774	GM12878	blood:	n/a	n/a
12	BRCA1	chr11:17405488-17405821	Hela-S3	cervix:	n/a	n/a
13	CBX3	chr11:17408154-17408559	K562	blood:	n/a	n/a
14	CBX3	chr11:17408259-17408511	K562	blood:	n/a	n/a
15	CCNT2	chr11:17410457-17411257	K562	blood:	n/a	chr11:17410936-17410945 chr11:17411150-17411159 chr11:17410891-17410900
16	CEBPB	chr11:17405117-17405413	IMR90	lung:	n/a	n/a
17	CEBPB	chr11:17411120-17411395	Hela-S3	cervix:	n/a	n/a
18	CEBPD	chr11:17410655-17411204	HepG2	liver:	n/a	n/a
19	CHD2	chr11:17405489-17405689	GM12878	blood:	n/a	n/a
20	CHD2	chr11:17410818-17411371	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD2	chr11:17408293-17408363	HepG2	liver:	n/a	n/a
22	CHD2	chr11:17405615-17405923	K562	blood:	n/a	n/a
23	CHD2	chr11:17411022-17411306	K562	blood:	n/a	n/a
24	CHD2	chr11:17404692-17404807	K562	blood:	n/a	n/a
25	CHD2	chr11:17410514-17411507	Hela-S3	cervix:	n/a	n/a
26	CHD2	chr11:17410797-17411243	GM12878	blood:	n/a	n/a
27	CHD2	chr11:17410993-17411350	HepG2	liver:	n/a	n/a
28	CHD2	chr11:17408404-17408530	K562	blood:	n/a	n/a
29	CREB1	chr11:17410393-17411313	A549	lung:	n/a	n/a
30	CTCF	chr11:17408153-17408549	IMR90	lung:	n/a	n/a
31	CTCF	chr11:17410732-17411016	GM13977	blood:	n/a	chr11:17410902-17410915 chr11:17410902-17410911 chr11:17410899-17410917 chr11:17410900-17410916
32	CTCF	chr11:17416466-17416525	MCF-7	breast:	n/a	n/a
33	CTCF	chr11:17410840-17410990	HVMF	connective:	n/a	chr11:17410902-17410915 chr11:17410902-17410911 chr11:17410899-17410917 chr11:17410900-17410916
34	CTCF	chr11:17405540-17405690	Hela-S3	cervix:	n/a	chr11:17405637-17405658 chr11:17405636-17405652 chr11:17405638-17405651 chr11:17405638-17405651 chr11:17405638-17405646 chr11:17405635-17405653
35	CTCF	chr11:17411217-17411277	Hela-S3	cervix:	n/a	n/a
36	CTCF	chr11:17410800-17410950	HEK293	kidney:	n/a	chr11:17410902-17410915 chr11:17410902-17410911 chr11:17410899-17410917 chr11:17410900-17410916
37	CTCF	chr11:17410800-17410950	HepG2	liver:	n/a	chr11:17410902-17410915 chr11:17410902-17410911 chr11:17410899-17410917 chr11:17410900-17410916
38	CTCF	chr11:17405425-17405766	SK-N-SH_RA	brain:	n/a	chr11:17405637-17405658 chr11:17405750-17405758 chr11:17405636-17405652 chr11:17405638-17405651 chr11:17405638-17405651 chr11:17405638-17405646 chr11:17405635-17405653
39	CTCF	chr11:17410795-17411000	A549	lung:	n/a	chr11:17410902-17410915 chr11:17410902-17410911 chr11:17410899-17410917 chr11:17410900-17410916
40	CTCF	chr11:17409320-17409470	GM06990	blood:	n/a	n/a
41	CTCF	chr11:17410820-17410970	GM12872	blood:	n/a	chr11:17410902-17410915 chr11:17410902-17410911 chr11:17410899-17410917 chr11:17410900-17410916
42	CTCF	chr11:17407900-17408050	AoAF	blood vessel:	n/a	n/a
43	CTCF	chr11:17408060-17408210	HUVEC	blood vessel:	n/a	n/a
44	CTCF	chr11:17405376-17405859	T-47D	breast:	n/a	chr11:17405637-17405658 chr11:17405750-17405758 chr11:17405636-17405652 chr11:17405638-17405651 chr11:17405638-17405651 chr11:17405638-17405646 chr11:17405635-17405653
45	CTCF	chr11:17416489-17416519	Gliobla	brain:	n/a	n/a
46	CTCF	chr11:17405080-17405230	HCPEpiC	choroid plexus:	n/a	n/a
47	CTCF	chr11:17410703-17410958	SK-N-SH_RA	brain:	n/a	chr11:17410902-17410915 chr11:17410902-17410911 chr11:17410899-17410917 chr11:17410900-17410916
48	CTCF	chr11:17410840-17410990	NB4	blood:	n/a	chr11:17410902-17410915 chr11:17410902-17410911 chr11:17410899-17410917 chr11:17410900-17410916
49	CTCF	chr11:17410404-17410536	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr11:17409200-17409350	NHDF-neo	bronchial:	n/a	n/a

(count:1098 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:17411712-17411762	SKMC	muscle:	n/a
2	chr11:17410863-17410913	ovcar-3	ovarian:	n/a
3	chr11:17415270-17415320	IMR90	lung:	fetal
4	chr11:17410554-17410604	ovcar-3	ovarian:	n/a
5	chr11:17411043-17411093	NB4	blood:	n/a
6	chr11:17409644-17409694	SK-N-SH_RA	brain:	n/a
7	chr11:17411043-17411093	HRE	kidney:	n/a
8	chr11:17410182-17410232	NHBE	bronchial:	n/a
9	chr11:17411766-17411816	HPAEpiC	pulmonary alveolar:	n/a
10	chr11:17410554-17410604	PANC-1	pancreas:	n/a
11	chr11:17407432-17407482	SAEC	small airway:	n/a
12	chr11:17409644-17409694	HIPEpiC	eye:	n/a
13	chr11:17409509-17409559	HRCEpiC	kidney:	n/a
14	chr11:17409602-17409652	U87	brain:	n/a
15	chr11:17411043-17411093	MCF-7	breast:	n/a
16	chr11:17411043-17411093	HCF	heart:	n/a
17	chr11:17411766-17411816	U87	brain:	n/a
18	chr11:17409509-17409559	HEK293	kidney:	embryo
19	chr11:17411043-17411093	BJ	skin:	n/a
20	chr11:17409602-17409652	LNCaP	prostate:	n/a
21	chr11:17410182-17410232	PrEC	prostate:	n/a
22	chr11:17408437-17408487	HUVEC	blood vessel:	n/a
23	chr11:17407432-17407482	AG09319	gingival:	n/a
24	chr11:17411006-17411056	MCF-7	breast:	n/a
25	chr11:17410554-17410604	HEEpiC	esophagus:	n/a
26	chr11:17410400-17410450	GM12891	blood:	n/a
27	chr11:17410400-17410450	IMR90	lung:	fetal
28	chr11:17409509-17409559	GM12892	blood:	n/a
29	chr11:17411766-17411816	SKMC	muscle:	n/a
30	chr11:17411071-17411121	K562	blood:	n/a
31	chr11:17408437-17408487	LNCaP	prostate:	n/a
32	chr11:17411766-17411816	AG04449	skin:	fetal
33	chr11:17411006-17411056	HNPCEpiC	eye:	n/a
34	chr11:17415270-17415320	NHDF-neo	bronchial:	n/a
35	chr11:17415270-17415320	MCF10A-Er-Src	breast:	n/a
36	chr11:17415270-17415320	ovcar-3	ovarian:	n/a
37	chr11:17411270-17411320	K562	blood:	n/a
38	chr11:17411766-17411816	Jurkat	blood:	n/a
39	chr11:17411006-17411056	K562	blood:	n/a
40	chr11:17411766-17411816	Hela-S3	cervix:	n/a
41	chr11:17410863-17410913	HL-60	blood:	n/a
42	chr11:17408437-17408487	HEEpiC	esophagus:	n/a
43	chr11:17407432-17407482	K562	blood:	n/a
44	chr11:17411071-17411121	SK-N-SH	brain:	n/a
45	chr11:17410863-17410913	ECC-1	luminal epithelium:	n/a
46	chr11:17411043-17411093	AG09309	skin:	n/a
47	chr11:17407432-17407482	PANC-1	pancreas:	n/a
48	chr11:17411071-17411121	HCPEpiC	choroid plexus:	n/a
49	chr11:17409188-17409238	PrEC	prostate:	n/a
50	chr11:17408437-17408487	NT2-D1	testis:	n/a

(count:43 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:17405017..17406217-chr11:17525833..17526983,7	K562	blood:
2	chr11:17405649..17406157-chr11:17617828..17618472,2	MCF-7	breast:
3	chr11:17404201..17406453-chr11:17548482..17550709,2	K562	blood:
4	chr11:17416000..17416717-chr11:17494745..17495547,2	MCF-7	breast:
5	chr11:17373205..17377100-chr11:17409140..17413152,4	K562	blood:
6	chr11:17375991..17376649-chr11:17405080..17405838,2	MCF-7	breast:
7	chr11:17407926..17410738-chr11:17427633..17429679,2	MCF-7	breast:
8	chr11:17413027..17414952-chr11:17415169..17417199,2	MCF-7	breast:
9	chr11:17405141..17406113-chr11:17549390..17550226,4	K562	blood:
10	chr11:17399571..17401205-chr11:17403779..17406500,2	K562	blood:
11	chr11:17409155..17411686-chr11:17415958..17417919,2	MCF-7	breast:
12	chr11:17404945..17405792-chr11:17525735..17526346,2	MCF-7	breast:
13	chr11:17405950..17408117-chr11:17411030..17412540,2	K562	blood:
14	chr11:17411217..17412789-chr11:17465893..17468748,2	MCF-7	breast:
15	chr11:17405170..17406511-chr11:17549006..17550272,4	MCF-7	breast:
16	chr11:17414116..17415827-chr11:17423109..17425784,2	MCF-7	breast:
17	chr11:17401527..17405179-chr11:17405771..17408702,5	K562	blood:
18	chr11:17405333..17406124-chr11:17519578..17520279,2	MCF-7	breast:
19	chr11:17409155..17411686-chr11:17415958..17417919,2	MCF-7	breast:
20	chr11:17405241..17406227-chr11:17551569..17552408,2	MCF-7	breast:
21	chr11:17405209..17406183-chr11:17527113..17528432,4	MCF-7	breast:
22	chr11:17251318..17252261-chr11:17405052..17406043,5	MCF-7	breast:
23	chr11:17373252..17376530-chr11:17405235..17408726,4	K562	blood:
24	chr11:17405126..17405972-chr11:17525824..17526796,7	MCF-7	breast:
25	chr11:17413027..17414952-chr11:17415169..17417199,2	MCF-7	breast:
26	chr11:17405197..17406140-chr11:17492660..17493631,2	K562	blood:
27	chr11:17405274..17406188-chr11:17494608..17495575,4	MCF-7	breast:
28	chr11:17405241..17405887-chr11:17492811..17493698,3	MCF-7	breast:
29	chr11:17405950..17408117-chr11:17411030..17412540,2	K562	blood:
30	chr11:17377121..17379727-chr11:17413012..17415189,2	K562	blood:
31	chr11:17403459..17406167-chr11:17526057..17528257,2	K562	blood:
32	chr11:17407309..17407849-chr11:17525524..17526306,2	MCF-7	breast:
33	chr11:17229389..17230099-chr11:17410468..17411417,2	K562	blood:
34	chr11:17407226..17410020-chr11:17412106..17414514,2	K562	blood:
35	chr11:17416024..17416970-chr11:17492845..17493349,3	MCF-7	breast:
36	chr11:17405389..17406159-chr11:17523565..17524770,3	K562	blood:
37	chr11:17401527..17405179-chr11:17405771..17408702,5	K562	blood:
38	chr11:17405241..17406080-chr11:17492901..17493668,2	MCF-7	breast:
39	chr11:17403171..17405241-chr11:17406430..17408298,2	MCF-7	breast:
40	chr11:17405620..17406191-chr11:17521835..17522724,2	K562	blood:
41	chr11:17407664..17411994-chr11:17495609..17498712,4	MCF-7	breast:
42	chr11:17411046..17413083-chr11:17494986..17496697,2	K562	blood:
43	chr11:17404429..17405006-chr11:17525398..17526266,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP1-239B22.1.1-1	chr11:17402196-17405078	ENSG00000260196.1
2	lnc-RP1-239B22.1.1-1	chr11:17402953-17405078	NONHSAT018230
3	lnc-ABCC8-1	chr11:17407610-17407859	NONHSAT018231
4	lnc-ABCC8-1	chr11:17408130-17408297	NONHSAT018231

No data

Variant related genes	Relation type
ABCC8	TF binding region
KCNJ11	TF binding region
ABCC8	CpG island
KCNJ11	CpG island
ENSG00000187486	chromatin interactions
ENSG00000188211	chromatin interactions
ENSG00000006071	chromatin interactions
ENSG00000006611	chromatin interactions
ENSG00000260196	chromatin interactions
ENSG00000011405	chromatin interactions
ENSG00000070081	chromatin interactions

Extended variants
information (count: 619 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:619 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1557765	chr11:17403639-17403640	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
2	rs549852641	chr11:17403645-17403646	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs544845692	chr11:17403651-17403652	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs7118875	chr11:17403669-17403670	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs1557764	chr11:17403690-17403691	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs140265660	chr11:17403699-17403700	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs145350762	chr11:17403716-17403717	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs575732382	chr11:17403782-17403783	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs112563965	chr11:17403787-17403788	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs555336918	chr11:17403801-17403802	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs137882285	chr11:17403814-17403815	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs72865059	chr11:17403841-17403842	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs565347194	chr11:17403934-17403935	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs576824057	chr11:17403938-17403939	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs565850217	chr11:17403956-17403957	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs562108557	chr11:17403962-17403963	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs141651678	chr11:17403965-17403966	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs550311604	chr11:17403992-17403993	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs34959959	chr11:17404042-17404043	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs200359798	chr11:17404043-17404044	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs397849267	chr11:17404044-17404045	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs77273626	chr11:17404064-17404065	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs10832784	chr11:17404065-17404066	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs527487967	chr11:17404112-17404113	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs375019371	chr11:17404113-17404114	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs552311562	chr11:17404156-17404157	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs181453869	chr11:17404166-17404167	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs555720613	chr11:17404191-17404192	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs532612500	chr11:17404212-17404213	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs185432782	chr11:17404216-17404217	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs550813761	chr11:17404219-17404220	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs12281940	chr11:17404224-17404225	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs536674013	chr11:17404271-17404272	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs112724306	chr11:17404358-17404359	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs567129606	chr11:17404422-17404423	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs11828705	chr11:17404500-17404501	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs138790950	chr11:17404502-17404503	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs563014285	chr11:17404528-17404529	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs559078121	chr11:17404586-17404587	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs531830721	chr11:17404626-17404627	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs10766393	chr11:17404652-17404653	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs533317104	chr11:17404690-17404691	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs544277833	chr11:17404693-17404694	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs12282247	chr11:17404694-17404695	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs184958778	chr11:17404809-17404810	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs563141843	chr11:17404814-17404815	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs10734252	chr11:17404839-17404840	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs74728365	chr11:17404846-17404847	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs369664847	chr11:17404849-17404850	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs547392996	chr11:17404898-17404899	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Lung adenocarcinoma	17086460	CNVD
Urothelial cell carcinoma	18451213	CNVD
Lung cancer	17086460	CNVD
Uterine serous papillary cancer	19536090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	21865298	CNVD

Chromatin state (count:624 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17394200-17407600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr11:17394400-17405000	Weak transcription	Brain Angular Gyrus	brain
3	chr11:17394400-17410200	Weak transcription	A549	lung
4	chr11:17395200-17405200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr11:17395200-17405800	Weak transcription	Gastric	stomach
6	chr11:17395200-17410200	Weak transcription	Thymus	Thymus
7	chr11:17395600-17406200	Weak transcription	Pancreas	Pancrea
8	chr11:17395600-17410200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr11:17395600-17410400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr11:17395800-17405200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr11:17395800-17405400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr11:17395800-17405400	Weak transcription	Left Ventricle	heart
13	chr11:17395800-17409200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr11:17396000-17408800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:17396600-17404600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr11:17396600-17410200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr11:17397200-17404800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:17397200-17407800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr11:17398200-17410200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr11:17398400-17405400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr11:17398800-17410200	Weak transcription	Primary T cells from cord blood	blood
22	chr11:17399000-17404600	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr11:17399200-17404200	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr11:17400600-17404200	Weak transcription	Ovary	ovary
25	chr11:17400600-17408000	Strong transcription	Fetal Intestine Small	intestine
26	chr11:17400600-17408800	Weak transcription	Brain Germinal Matrix	brain
27	chr11:17400800-17403800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr11:17400800-17407200	Weak transcription	Fetal Brain Female	brain
29	chr11:17400800-17410200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr11:17401000-17405600	Weak transcription	Brain Hippocampus Middle	brain
31	chr11:17401000-17410200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:17401200-17404600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:17401200-17405200	Weak transcription	Brain Anterior Caudate	brain
34	chr11:17401200-17405400	Weak transcription	Psoas Muscle	Psoas
35	chr11:17401200-17407200	Weak transcription	Lung	lung
36	chr11:17401600-17405200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr11:17401600-17405200	Strong transcription	Dnd41	blood
38	chr11:17401600-17410200	Weak transcription	Hela-S3	cervix
39	chr11:17401600-17410200	Weak transcription	K562	blood
40	chr11:17401800-17404000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:17401800-17405200	Weak transcription	NHEK	skin
42	chr11:17401800-17405400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr11:17401800-17405600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:17401800-17407400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:17401800-17407400	Weak transcription	HepG2	liver
46	chr11:17401800-17410200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr11:17402000-17404800	Weak transcription	Fetal Muscle Leg	muscle
48	chr11:17402000-17410200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr11:17402000-17410200	Weak transcription	HMEC	breast
50	chr11:17402400-17404400	Enhancers	NHDF-Ad	bronchial

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