Variant report

Variant	nsv540951
Chromosome Location	chr11:17404438-17422755
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1142)
CpG islands
(count:1100)
Chromatin interactive
region (count:44)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1142 , 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	chr11:17408310-17408505	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr11:17411299-17411438	K562	blood:	n/a	n/a
4	BACH1	chr11:17410766-17411304	H1-hESC	embryonic stem cell:	n/a	n/a
5	BATF	chr11:17421940-17422180	GM12878	blood:	n/a	n/a
6	BCL3	chr11:17405039-17405432	GM12878	blood:	n/a	n/a
7	BHLHE40	chr11:17410752-17411308	K562	blood:	n/a	chr11:17410931-17410947
8	BHLHE40	chr11:17411578-17411679	K562	blood:	n/a	n/a
9	BHLHE40	chr11:17405514-17405774	GM12878	blood:	n/a	n/a
10	BHLHE40	chr11:17405434-17405719	K562	blood:	n/a	n/a
11	BHLHE40	chr11:17410753-17410977	GM12878	blood:	n/a	chr11:17410931-17410947
12	BHLHE40	chr11:17408228-17408447	K562	blood:	n/a	n/a
13	BRCA1	chr11:17405488-17405821	Hela-S3	cervix:	n/a	n/a
14	CBX3	chr11:17408259-17408511	K562	blood:	n/a	n/a
15	CBX3	chr11:17408154-17408559	K562	blood:	n/a	n/a
16	CCNT2	chr11:17410457-17411257	K562	blood:	n/a	chr11:17410936-17410945 chr11:17411150-17411159 chr11:17410891-17410900
17	CEBPB	chr11:17405117-17405413	IMR90	lung:	n/a	n/a
18	CEBPB	chr11:17411120-17411395	Hela-S3	cervix:	n/a	n/a
19	CEBPD	chr11:17410655-17411204	HepG2	liver:	n/a	n/a
20	CHD2	chr11:17410797-17411243	GM12878	blood:	n/a	n/a
21	CHD2	chr11:17405489-17405689	GM12878	blood:	n/a	n/a
22	CHD2	chr11:17410514-17411507	Hela-S3	cervix:	n/a	n/a
23	CHD2	chr11:17408404-17408530	K562	blood:	n/a	n/a
24	CHD2	chr11:17421690-17421783	GM12878	blood:	n/a	n/a
25	CHD2	chr11:17410818-17411371	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD2	chr11:17405615-17405923	K562	blood:	n/a	n/a
27	CHD2	chr11:17408293-17408363	HepG2	liver:	n/a	n/a
28	CHD2	chr11:17410993-17411350	HepG2	liver:	n/a	n/a
29	CHD2	chr11:17404692-17404807	K562	blood:	n/a	n/a
30	CHD2	chr11:17411022-17411306	K562	blood:	n/a	n/a
31	CREB1	chr11:17410393-17411313	A549	lung:	n/a	n/a
32	CTCF	chr11:17405560-17405710	BE2_C	brain:	n/a	chr11:17405637-17405658 chr11:17405636-17405652 chr11:17405638-17405651 chr11:17405638-17405651 chr11:17405638-17405646 chr11:17405635-17405653
33	CTCF	chr11:17410688-17410994	LNCaP	prostate:	n/a	chr11:17410902-17410915 chr11:17410902-17410911 chr11:17410899-17410917 chr11:17410900-17410916
34	CTCF	chr11:17410515-17410667	Spleen_OC	spleen:	n/a	n/a
35	CTCF	chr11:17408630-17408637	GM19238	blood:	n/a	n/a
36	CTCF	chr11:17408260-17408410	HUVEC	blood vessel:	n/a	n/a
37	CTCF	chr11:17410820-17410970	GM12875	blood:	n/a	chr11:17410902-17410915 chr11:17410902-17410911 chr11:17410899-17410917 chr11:17410900-17410916
38	CTCF	chr11:17405560-17405710	HMEC	breast:	n/a	chr11:17405637-17405658 chr11:17405636-17405652 chr11:17405638-17405651 chr11:17405638-17405651 chr11:17405638-17405646 chr11:17405635-17405653
39	CTCF	chr11:17405504-17405773	HepG2	liver:	n/a	chr11:17405637-17405658 chr11:17405750-17405758 chr11:17405636-17405652 chr11:17405638-17405651 chr11:17405638-17405651 chr11:17405638-17405646 chr11:17405635-17405653
40	CTCF	chr11:17404920-17405070	NHDF-neo	bronchial:	n/a	n/a
41	CTCF	chr11:17408300-17408450	AoAF	blood vessel:	n/a	n/a
42	CTCF	chr11:17410780-17410930	Hela-S3	cervix:	n/a	chr11:17410902-17410915 chr11:17410902-17410911 chr11:17410899-17410917 chr11:17410900-17410916
43	CTCF	chr11:17410820-17410970	MCF-7	breast:	n/a	chr11:17410902-17410915 chr11:17410902-17410911 chr11:17410899-17410917 chr11:17410900-17410916
44	CTCF	chr11:17407780-17407930	WI-38	lung:	n/a	n/a
45	CTCF	chr11:17410405-17410570	MCF-7	breast:	n/a	n/a
46	CTCF	chr11:17410780-17410930	HBMEC	blood vessel:	n/a	chr11:17410902-17410915 chr11:17410902-17410911 chr11:17410899-17410917 chr11:17410900-17410916
47	CTCF	chr11:17408199-17408500	Fibrobl	skin:	n/a	n/a
48	CTCF	chr11:17405660-17405810	WI-38	lung:	n/a	chr11:17405750-17405758
49	CTCF	chr11:17416485-17416508	GM12891	blood:	n/a	n/a
50	CTCF	chr11:17405488-17405801	A549	lung:	n/a	chr11:17405637-17405658 chr11:17405750-17405758 chr11:17405636-17405652 chr11:17405638-17405651 chr11:17405638-17405651 chr11:17405638-17405646 chr11:17405635-17405653

(count:1100 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:17411071-17411121	A549	lung:	n/a
2	chr11:17409509-17409559	NH-A	brain:	n/a
3	chr11:17411071-17411121	A549	lung:	n/a
4	chr11:17409509-17409559	NH-A	brain:	n/a
5	chr11:17410554-17410604	HCPEpiC	choroid plexus:	n/a
6	chr11:17410380-17410430	Jurkat	blood:	n/a
7	chr11:17409188-17409238	NH-A	brain:	n/a
8	chr11:17410400-17410450	AG10803	skin:	n/a
9	chr11:17410400-17410450	HL-60	blood:	n/a
10	chr11:17409188-17409238	HRE	kidney:	n/a
11	chr11:17409188-17409238	HIPEpiC	eye:	n/a
12	chr11:17411043-17411093	SK-N-SH_RA	brain:	n/a
13	chr11:17411006-17411056	GM12891	blood:	n/a
14	chr11:17407432-17407482	T-47D	breast:	n/a
15	chr11:17409602-17409652	SKMC	muscle:	n/a
16	chr11:17410863-17410913	SKMC	muscle:	n/a
17	chr11:17411071-17411121	Jurkat	blood:	n/a
18	chr11:17410863-17410913	ECC-1	luminal epithelium:	n/a
19	chr11:17409602-17409652	PANC-1	pancreas:	n/a
20	chr11:17409509-17409559	NB4	blood:	n/a
21	chr11:17408437-17408487	AoSMC	blood vessel:	n/a
22	chr11:17411071-17411121	AG10803	skin:	n/a
23	chr11:17411712-17411762	U87	brain:	n/a
24	chr11:17411006-17411056	SK-N-SH	brain:	n/a
25	chr11:17410182-17410232	HEEpiC	esophagus:	n/a
26	chr11:17411712-17411762	NHBE	bronchial:	n/a
27	chr11:17411766-17411816	LNCaP	prostate:	n/a
28	chr11:17411270-17411320	H1-hESC	embryonic stem cell:	embryo
29	chr11:17415270-17415320	SKMC	muscle:	n/a
30	chr11:17407432-17407482	PANC-1	pancreas:	n/a
31	chr11:17411043-17411093	NHDF-neo	bronchial:	n/a
32	chr11:17411043-17411093	Hepatocyte	liver:	n/a
33	chr11:17409644-17409694	LNCaP	prostate:	n/a
34	chr11:17409509-17409559	HCPEpiC	choroid plexus:	n/a
35	chr11:17411071-17411121	NT2-D1	testis:	n/a
36	chr11:17409509-17409559	GM12891	blood:	n/a
37	chr11:17410380-17410430	T-47D	breast:	n/a
38	chr11:17409188-17409238	SKMC	muscle:	n/a
39	chr11:17409188-17409238	MCF10A-Er-Src	breast:	n/a
40	chr11:17407432-17407482	PrEC	prostate:	n/a
41	chr11:17410400-17410450	A549	lung:	n/a
42	chr11:17409188-17409238	NHBE	bronchial:	n/a
43	chr11:17410182-17410232	ovcar-3	ovarian:	n/a
44	chr11:17411006-17411056	K562	blood:	n/a
45	chr11:17410182-17410232	HMEC	breast:	n/a
46	chr11:17410863-17410913	RPTEC	kidney:	n/a
47	chr11:17415270-17415320	PFSK-1	brain:	n/a
48	chr11:17411766-17411816	HPAEpiC	pulmonary alveolar:	n/a
49	chr11:17410182-17410232	HCPEpiC	choroid plexus:	n/a
50	chr11:17411270-17411320	ovcar-3	ovarian:	n/a

(count:44 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:17405141..17406113-chr11:17549390..17550226,4	K562	blood:
2	chr11:17405241..17406080-chr11:17492901..17493668,2	MCF-7	breast:
3	chr11:17251318..17252261-chr11:17405052..17406043,5	MCF-7	breast:
4	chr11:17407664..17411994-chr11:17495609..17498712,4	MCF-7	breast:
5	chr11:17229389..17230099-chr11:17410468..17411417,2	K562	blood:
6	chr11:17405017..17406217-chr11:17525833..17526983,7	K562	blood:
7	chr11:17405197..17406140-chr11:17492660..17493631,2	K562	blood:
8	chr11:17373252..17376530-chr11:17405235..17408726,4	K562	blood:
9	chr11:17403171..17405241-chr11:17406430..17408298,2	MCF-7	breast:
10	chr11:17405209..17406183-chr11:17527113..17528432,4	MCF-7	breast:
11	chr11:17411217..17412789-chr11:17465893..17468748,2	MCF-7	breast:
12	chr11:17403459..17406167-chr11:17526057..17528257,2	K562	blood:
13	chr11:17407226..17410020-chr11:17412106..17414514,2	K562	blood:
14	chr11:17407926..17410738-chr11:17427633..17429679,2	MCF-7	breast:
15	chr11:17405170..17406511-chr11:17549006..17550272,4	MCF-7	breast:
16	chr11:17405333..17406124-chr11:17519578..17520279,2	MCF-7	breast:
17	chr11:17405274..17406188-chr11:17494608..17495575,4	MCF-7	breast:
18	chr11:17401527..17405179-chr11:17405771..17408702,5	K562	blood:
19	chr11:17416000..17416717-chr11:17494745..17495547,2	MCF-7	breast:
20	chr11:17416024..17416970-chr11:17492845..17493349,3	MCF-7	breast:
21	chr11:17405389..17406159-chr11:17523565..17524770,3	K562	blood:
22	chr11:17404201..17406453-chr11:17548482..17550709,2	K562	blood:
23	chr11:17401527..17405179-chr11:17405771..17408702,5	K562	blood:
24	chr11:17404945..17405792-chr11:17525735..17526346,2	MCF-7	breast:
25	chr11:17413027..17414952-chr11:17415169..17417199,2	MCF-7	breast:
26	chr11:17405241..17406227-chr11:17551569..17552408,2	MCF-7	breast:
27	chr11:17418305..17421610-chr11:17424187..17428054,3	K562	blood:
28	chr11:17399571..17401205-chr11:17403779..17406500,2	K562	blood:
29	chr11:17414116..17415827-chr11:17423109..17425784,2	MCF-7	breast:
30	chr11:17409155..17411686-chr11:17415958..17417919,2	MCF-7	breast:
31	chr11:17413027..17414952-chr11:17415169..17417199,2	MCF-7	breast:
32	chr11:17405649..17406157-chr11:17617828..17618472,2	MCF-7	breast:
33	chr11:17377121..17379727-chr11:17413012..17415189,2	K562	blood:
34	chr11:17405950..17408117-chr11:17411030..17412540,2	K562	blood:
35	chr11:17405126..17405972-chr11:17525824..17526796,7	MCF-7	breast:
36	chr11:17404429..17405006-chr11:17525398..17526266,2	K562	blood:
37	chr11:17407309..17407849-chr11:17525524..17526306,2	MCF-7	breast:
38	chr11:17375991..17376649-chr11:17405080..17405838,2	MCF-7	breast:
39	chr11:17409155..17411686-chr11:17415958..17417919,2	MCF-7	breast:
40	chr11:17411046..17413083-chr11:17494986..17496697,2	K562	blood:
41	chr11:17405950..17408117-chr11:17411030..17412540,2	K562	blood:
42	chr11:17405241..17405887-chr11:17492811..17493698,3	MCF-7	breast:
43	chr11:17373205..17377100-chr11:17409140..17413152,4	K562	blood:
44	chr11:17405620..17406191-chr11:17521835..17522724,2	K562	blood:

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

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

No data

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

Extended variants
information (count: 853 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:853 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	rs138790950	chr11:17404502-17404503	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs563014285	chr11:17404528-17404529	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs559078121	chr11:17404586-17404587	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs531830721	chr11:17404626-17404627	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	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
7	rs533317104	chr11:17404690-17404691	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs544277833	chr11:17404693-17404694	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	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
10	rs184958778	chr11:17404809-17404810	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs563141843	chr11:17404814-17404815	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	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
13	rs74728365	chr11:17404846-17404847	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs369664847	chr11:17404849-17404850	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs547392996	chr11:17404898-17404899	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs527537722	chr11:17404963-17404964	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs567538641	chr11:17404980-17404981	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs536085892	chr11:17405027-17405028	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs549563047	chr11:17405028-17405029	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs545802654	chr11:17405055-17405056	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs531108688	chr11:17405062-17405063	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs531441815	chr11:17405164-17405165	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs150584891	chr11:17405168-17405169	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs1557763	chr11:17405208-17405209	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs530226945	chr11:17405268-17405269	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs10832785	chr11:17405333-17405334	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs1002227	chr11:17405347-17405348	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs117885200	chr11:17405364-17405365	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs530572512	chr11:17405405-17405406	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs571001452	chr11:17405406-17405407	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs538100726	chr11:17405417-17405418	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs11604345	chr11:17405442-17405443	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs574157938	chr11:17405480-17405481	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs373612918	chr11:17405499-17405500	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs553325620	chr11:17405500-17405501	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs371022299	chr11:17405506-17405507	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs571964579	chr11:17405517-17405518	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs534594930	chr11:17405531-17405532	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs1002226	chr11:17405617-17405618	Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs549270382	chr11:17405619-17405620	Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs372123073	chr11:17405633-17405634	Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs576183985	chr11:17405638-17405639	Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs543682617	chr11:17405647-17405648	Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs112511660	chr11:17405649-17405650	Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs574269857	chr11:17405651-17405652	Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs560521924	chr11:17405673-17405674	Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs5789984	chr11:17405843-17405844	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs186169949	chr11:17405844-17405845	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs398097390	chr11:17405845-17405846	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs190906188	chr11:17405846-17405847	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 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:660 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

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	chr11:17400600-17408000	Strong transcription	Fetal Intestine Small	intestine
24	chr11:17400600-17408800	Weak transcription	Brain Germinal Matrix	brain
25	chr11:17400800-17407200	Weak transcription	Fetal Brain Female	brain
26	chr11:17400800-17410200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr11:17401000-17405600	Weak transcription	Brain Hippocampus Middle	brain
28	chr11:17401000-17410200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:17401200-17404600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr11:17401200-17405200	Weak transcription	Brain Anterior Caudate	brain
31	chr11:17401200-17405400	Weak transcription	Psoas Muscle	Psoas
32	chr11:17401200-17407200	Weak transcription	Lung	lung
33	chr11:17401600-17405200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:17401600-17405200	Strong transcription	Dnd41	blood
35	chr11:17401600-17410200	Weak transcription	Hela-S3	cervix
36	chr11:17401600-17410200	Weak transcription	K562	blood
37	chr11:17401800-17405200	Weak transcription	NHEK	skin
38	chr11:17401800-17405400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr11:17401800-17405600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr11:17401800-17407400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:17401800-17407400	Weak transcription	HepG2	liver
42	chr11:17401800-17410200	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr11:17402000-17404800	Weak transcription	Fetal Muscle Leg	muscle
44	chr11:17402000-17410200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr11:17402000-17410200	Weak transcription	HMEC	breast
46	chr11:17402400-17407800	Weak transcription	Fetal Intestine Large	intestine
47	chr11:17402600-17404600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:17403000-17405000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:17403000-17405400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr11:17403000-17410400	Weak transcription	Aorta	Aorta

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