Variant report

Variant	nsv467713
Chromosome Location	chr11:17408025-17440473
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1164)
CpG islands
(count:1102)
Chromatin interactive
region (count:41)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1164 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

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	ATF3	chr11:17429170-17429391	K562	blood:	n/a	n/a
3	BACH1	chr11:17427153-17427597	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr11:17410766-17411304	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr11:17411299-17411438	K562	blood:	n/a	n/a
6	BACH1	chr11:17408310-17408505	H1-hESC	embryonic stem cell:	n/a	n/a
7	BATF	chr11:17421940-17422180	GM12878	blood:	n/a	n/a
8	BHLHE40	chr11:17425607-17425753	HepG2	liver:	n/a	n/a
9	BHLHE40	chr11:17410752-17411308	K562	blood:	n/a	chr11:17410931-17410947
10	BHLHE40	chr11:17427215-17427415	K562	blood:	n/a	chr11:17427351-17427367
11	BHLHE40	chr11:17410753-17410977	GM12878	blood:	n/a	chr11:17410931-17410947
12	BHLHE40	chr11:17434331-17434486	K562	blood:	n/a	n/a
13	BHLHE40	chr11:17425529-17425838	K562	blood:	n/a	n/a
14	BHLHE40	chr11:17411578-17411679	K562	blood:	n/a	n/a
15	BHLHE40	chr11:17429181-17429394	K562	blood:	n/a	n/a
16	BHLHE40	chr11:17408228-17408447	K562	blood:	n/a	n/a
17	CBX3	chr11:17408154-17408559	K562	blood:	n/a	n/a
18	CBX3	chr11:17429164-17429523	K562	blood:	n/a	n/a
19	CBX3	chr11:17408259-17408511	K562	blood:	n/a	n/a
20	CCNT2	chr11:17410457-17411257	K562	blood:	n/a	chr11:17410936-17410945 chr11:17411150-17411159 chr11:17410891-17410900
21	CEBPB	chr11:17425598-17425895	K562	blood:	n/a	chr11:17425733-17425744
22	CEBPB	chr11:17411120-17411395	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr11:17425580-17425875	HepG2	liver:	n/a	chr11:17425733-17425744
24	CEBPB	chr11:17429307-17429473	K562	blood:	n/a	n/a
25	CEBPB	chr11:17425609-17425889	A549	lung:	n/a	chr11:17425733-17425744
26	CEBPB	chr11:17425560-17425913	Hela-S3	cervix:	n/a	chr11:17425733-17425744
27	CEBPB	chr11:17425589-17425914	ECC-1	luminal epithelium:	n/a	chr11:17425733-17425744
28	CEBPB	chr11:17425581-17425896	IMR90	lung:	n/a	chr11:17425733-17425744
29	CEBPB	chr11:17425527-17425936	ECC-1	luminal epithelium:	n/a	chr11:17425733-17425744
30	CEBPD	chr11:17410655-17411204	HepG2	liver:	n/a	n/a
31	CHD2	chr11:17410993-17411350	HepG2	liver:	n/a	n/a
32	CHD2	chr11:17410818-17411371	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD2	chr11:17410797-17411243	GM12878	blood:	n/a	n/a
34	CHD2	chr11:17421690-17421783	GM12878	blood:	n/a	n/a
35	CHD2	chr11:17410514-17411507	Hela-S3	cervix:	n/a	n/a
36	CHD2	chr11:17408293-17408363	HepG2	liver:	n/a	n/a
37	CHD2	chr11:17408404-17408530	K562	blood:	n/a	n/a
38	CHD2	chr11:17411022-17411306	K562	blood:	n/a	n/a
39	CREB1	chr11:17410393-17411313	A549	lung:	n/a	n/a
40	CREB1	chr11:17427225-17427522	A549	lung:	n/a	n/a
41	CTCF	chr11:17410380-17410530	HEK293	kidney:	n/a	n/a
42	CTCF	chr11:17416460-17416610	HRE	kidney:	n/a	n/a
43	CTCF	chr11:17408260-17408410	SAEC	small airway:	n/a	n/a
44	CTCF	chr11:17410742-17411011	H1-hESC	embryonic stem cell:	n/a	chr11:17410902-17410915 chr11:17410902-17410911 chr11:17410899-17410917 chr11:17410900-17410916
45	CTCF	chr11:17410820-17410970	HRPEpiC	eye:	n/a	chr11:17410902-17410915 chr11:17410902-17410911 chr11:17410899-17410917 chr11:17410900-17410916
46	CTCF	chr11:17410820-17410970	GM12873	blood:	n/a	chr11:17410902-17410915 chr11:17410902-17410911 chr11:17410899-17410917 chr11:17410900-17410916
47	CTCF	chr11:17427261-17427347	LNCaP	prostate:	n/a	n/a
48	CTCF	chr11:17427180-17427330	AG04449	skin:	n/a	n/a
49	CTCF	chr11:17416400-17416550	MCF-7	breast:	n/a	n/a
50	CTCF	chr11:17410724-17411028	Spleen_OC	spleen:	n/a	chr11:17410902-17410915 chr11:17410902-17410911 chr11:17410899-17410917 chr11:17410900-17410916

(count:1102 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:17410863-17410913	LNCaP	prostate:	n/a
2	chr11:17411071-17411121	RPTEC	kidney:	n/a
3	chr11:17411712-17411762	ECC-1	luminal epithelium:	n/a
4	chr11:17410554-17410604	T-47D	breast:	n/a
5	chr11:17410863-17410913	LNCaP	prostate:	n/a
6	chr11:17411071-17411121	RPTEC	kidney:	n/a
7	chr11:17411712-17411762	ECC-1	luminal epithelium:	n/a
8	chr11:17410554-17410604	T-47D	breast:	n/a
9	chr11:17409602-17409652	NB4	blood:	n/a
10	chr11:17411766-17411816	BE2_C	brain:	n/a
11	chr11:17410863-17410913	HPAEpiC	pulmonary alveolar:	n/a
12	chr11:17411712-17411762	AG04450	lung:	fetal
13	chr11:17409188-17409238	GM12891	blood:	n/a
14	chr11:17409602-17409652	HEK293	kidney:	embryo
15	chr11:17409509-17409559	BE2_C	brain:	n/a
16	chr11:17415270-17415320	H1-hESC	embryonic stem cell:	embryo
17	chr11:17411006-17411056	HCT-116	colon:	n/a
18	chr11:17410182-17410232	HL-60	blood:	n/a
19	chr11:17409509-17409559	Hela-S3	cervix:	n/a
20	chr11:17411270-17411320	HMEC	breast:	n/a
21	chr11:17410400-17410450	HRCEpiC	kidney:	n/a
22	chr11:17409602-17409652	SK-N-SH_RA	brain:	n/a
23	chr11:17409509-17409559	HCT-116	colon:	n/a
24	chr11:17409509-17409559	NH-A	brain:	n/a
25	chr11:17410863-17410913	HEK293	kidney:	embryo
26	chr11:17415270-17415320	PrEC	prostate:	n/a
27	chr11:17409644-17409694	CMK	blood:	n/a
28	chr11:17408437-17408487	HRPEpiC	eye:	n/a
29	chr11:17410400-17410450	HCF	heart:	n/a
30	chr11:17411766-17411816	HCM	heart:	n/a
31	chr11:17410863-17410913	BE2_C	brain:	n/a
32	chr11:17410400-17410450	GM12892	blood:	n/a
33	chr11:17410863-17410913	H1-hESC	embryonic stem cell:	embryo
34	chr11:17409188-17409238	SK-N-SH	brain:	n/a
35	chr11:17411712-17411762	AG09319	gingival:	n/a
36	chr11:17408437-17408487	GM19239	blood:	n/a
37	chr11:17409188-17409238	AG10803	skin:	n/a
38	chr11:17415270-17415320	SKMC	muscle:	n/a
39	chr11:17409602-17409652	HRPEpiC	eye:	n/a
40	chr11:17410380-17410430	H1-hESC	embryonic stem cell:	embryo
41	chr11:17410182-17410232	Hepatocyte	liver:	n/a
42	chr11:17409602-17409652	SKMC	muscle:	n/a
43	chr11:17411071-17411121	AG10803	skin:	n/a
44	chr11:17411270-17411320	PFSK-1	brain:	n/a
45	chr11:17411270-17411320	GM19239	blood:	n/a
46	chr11:17410554-17410604	AG09309	skin:	n/a
47	chr11:17411270-17411320	ECC-1	luminal epithelium:	n/a
48	chr11:17411270-17411320	AG04449	skin:	fetal
49	chr11:17409602-17409652	HL-60	blood:	n/a
50	chr11:17408437-17408487	AG09309	skin:	n/a

(count:41 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:17431085..17433114-chr11:17442252..17444693,2	K562	blood:
2	chr11:17416000..17416717-chr11:17494745..17495547,2	MCF-7	breast:
3	chr11:17425857..17428826-chr11:17463749..17466704,2	K562	blood:
4	chr11:17409155..17411686-chr11:17415958..17417919,2	MCF-7	breast:
5	chr11:17373252..17376530-chr11:17405235..17408726,4	K562	blood:
6	chr11:17229389..17230099-chr11:17410468..17411417,2	K562	blood:
7	chr11:17407926..17410738-chr11:17427633..17429679,2	MCF-7	breast:
8	chr11:16977896..16978867-chr11:17426967..17427690,6	MCF-7	breast:
9	chr11:17413027..17414952-chr11:17415169..17417199,2	MCF-7	breast:
10	chr11:17373205..17377100-chr11:17409140..17413152,4	K562	blood:
11	chr11:17433977..17434919-chr11:17492806..17493693,3	MCF-7	breast:
12	chr11:17427284..17427815-chr11:17946414..17946944,2	MCF-7	breast:
13	chr11:17438853..17441304-chr11:17442560..17445643,3	K562	blood:
14	chr11:17407226..17410020-chr11:17412106..17414514,2	K562	blood:
15	chr11:17437268..17438845-chr11:17442068..17444697,2	K562	blood:
16	chr11:17411046..17413083-chr11:17494986..17496697,2	K562	blood:
17	chr11:17405950..17408117-chr11:17411030..17412540,2	K562	blood:
18	chr11:17405950..17408117-chr11:17411030..17412540,2	K562	blood:
19	chr11:17435065..17437385-chr11:17449381..17451000,2	MCF-7	breast:
20	chr11:17377121..17379727-chr11:17413012..17415189,2	K562	blood:
21	chr11:17426991..17427860-chr11:17946039..17946557,2	MCF-7	breast:
22	chr11:17427066..17427830-chr11:17464406..17465035,2	MCF-7	breast:
23	chr11:17409155..17411686-chr11:17415958..17417919,2	MCF-7	breast:
24	chr11:17418305..17421610-chr11:17424187..17428054,3	K562	blood:
25	chr11:17407664..17411994-chr11:17495609..17498712,4	MCF-7	breast:
26	chr11:17413027..17414952-chr11:17415169..17417199,2	MCF-7	breast:
27	chr11:17433944..17434545-chr11:17525877..17526642,2	MCF-7	breast:
28	chr11:17410494..17411550-chr11:17427166..17427685,3	MCF-7	breast:
29	chr11:17427090..17427897-chr18:46517244..46517764,2	MCF-7	breast:
30	chr11:17260522..17261598-chr11:17427013..17427898,6	MCF-7	breast:
31	chr11:17416024..17416970-chr11:17492845..17493349,3	MCF-7	breast:
32	chr11:17401527..17405179-chr11:17405771..17408702,5	K562	blood:
33	chr11:17414116..17415827-chr11:17423109..17425784,2	MCF-7	breast:
34	chr11:16977896..16978786-chr11:17426967..17427655,5	MCF-7	breast:
35	chr11:17411217..17412789-chr11:17465893..17468748,2	MCF-7	breast:
36	chr11:17434007..17434879-chr11:17494696..17495665,4	MCF-7	breast:
37	chr11:17426978..17427915-chr11:17791365..17792205,5	MCF-7	breast:
38	chr11:17407926..17410738-chr11:17427633..17429679,2	MCF-7	breast:
39	chr11:17425700..17429161-chr11:17431287..17434837,3	K562	blood:
40	chr11:17426978..17427915-chr11:17791365..17792221,7	MCF-7	breast:
41	chr11:17418305..17421610-chr11:17424187..17428054,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ABCC8-1	chr11:17408130-17408297	NONHSAT018231
2	lnc-KCNJ11-2	chr11:17439193-17439882	NONHSAT018233

No data

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

Extended variants
information (count: 1492 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:1492 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2285676	chr11:17408025-17408026	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs35294169	chr11:17408030-17408031	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs148712397	chr11:17408032-17408033	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs576026175	chr11:17408063-17408064	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs5208	chr11:17408090-17408091	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs561755715	chr11:17408106-17408107	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs529498937	chr11:17408107-17408108	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs372737066	chr11:17408129-17408130	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs541725017	chr11:17408130-17408131	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
10	rs118179872	chr11:17408131-17408132	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
11	rs533601283	chr11:17408147-17408148	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
12	rs5209	chr11:17408178-17408179	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs113019623	chr11:17408179-17408180	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
14	rs185542065	chr11:17408202-17408203	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
15	rs5210	chr11:17408251-17408252	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs115811959	chr11:17408254-17408255	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
17	rs567290120	chr11:17408293-17408294	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
18	rs5211	chr11:17408294-17408295	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
19	rs77674298	chr11:17408305-17408306	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs139391954	chr11:17408358-17408359	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs5212	chr11:17408374-17408375	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs193076739	chr11:17408390-17408391	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs557821086	chr11:17408401-17408402	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs5213	chr11:17408404-17408405	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs555307205	chr11:17408428-17408429	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs199834960	chr11:17408435-17408436	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs370047076	chr11:17408437-17408438	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs372394648	chr11:17408438-17408439	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs375713439	chr11:17408452-17408453	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs560039845	chr11:17408453-17408454	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs41282930	chr11:17408485-17408486	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs184094021	chr11:17408487-17408488	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs557050704	chr11:17408488-17408489	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs141904039	chr11:17408489-17408490	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs8175351	chr11:17408496-17408497	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs114613745	chr11:17408533-17408534	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs371275937	chr11:17408534-17408535	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs138168190	chr11:17408540-17408541	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs149141985	chr11:17408543-17408544	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs143276279	chr11:17408544-17408545	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs5214	chr11:17408550-17408551	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs375859605	chr11:17408551-17408552	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs146255794	chr11:17408600-17408601	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs114215135	chr11:17408605-17408606	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs138125678	chr11:17408623-17408624	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs5215	chr11:17408630-17408631	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
47	rs538566992	chr11:17408631-17408632	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs193929358	chr11:17408638-17408639	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs193929357	chr11:17408642-17408643	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs193929356	chr11:17408650-17408651	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

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

Chromatin state (count:822 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17394400-17410200	Weak transcription	A549	lung
2	chr11:17395200-17410200	Weak transcription	Thymus	Thymus
3	chr11:17395600-17410200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr11:17395600-17410400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr11:17395800-17409200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr11:17396000-17408800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:17396600-17410200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr11:17398200-17410200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr11:17398800-17410200	Weak transcription	Primary T cells from cord blood	blood
10	chr11:17400600-17408800	Weak transcription	Brain Germinal Matrix	brain
11	chr11:17400800-17410200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr11:17401000-17410200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr11:17401600-17410200	Weak transcription	Hela-S3	cervix
14	chr11:17401600-17410200	Weak transcription	K562	blood
15	chr11:17401800-17410200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr11:17402000-17410200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr11:17402000-17410200	Weak transcription	HMEC	breast
18	chr11:17403000-17410400	Weak transcription	Aorta	Aorta
19	chr11:17403600-17408600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr11:17403800-17410400	Weak transcription	HSMMtube	muscle
21	chr11:17404200-17410200	Weak transcription	HSMM	muscle
22	chr11:17405000-17408600	Enhancers	Brain Angular Gyrus	brain
23	chr11:17405200-17412000	Enhancers	Fetal Brain Male	brain
24	chr11:17405400-17408200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr11:17405400-17409800	Transcr. at gene 5' and 3'	Dnd41	blood
26	chr11:17405600-17408800	Weak transcription	Esophagus	oesophagus
27	chr11:17405600-17409200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
28	chr11:17406000-17408800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr11:17406000-17410200	Weak transcription	Brain Hippocampus Middle	brain
30	chr11:17406200-17408400	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr11:17406600-17408200	Active TSS	Brain Anterior Caudate	brain
32	chr11:17407200-17408200	Active TSS	Fetal Brain Female	brain
33	chr11:17407200-17408200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
34	chr11:17407200-17408200	Flanking Active TSS	Fetal Muscle Leg	muscle
35	chr11:17407200-17410200	Enhancers	Lung	lung
36	chr11:17407400-17408200	Active TSS	Psoas Muscle	Psoas
37	chr11:17407400-17408200	Enhancers	HepG2	liver
38	chr11:17407400-17408400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr11:17407400-17408400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:17407600-17408200	Enhancers	Brain Cingulate Gyrus	brain
41	chr11:17407600-17408200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
42	chr11:17407600-17408200	Flanking Active TSS	Right Ventricle	heart
43	chr11:17407600-17408400	Enhancers	Stomach Smooth Muscle	stomach
44	chr11:17407800-17408200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr11:17407800-17408200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr11:17407800-17408200	Active TSS	Left Ventricle	heart
47	chr11:17407800-17408600	Enhancers	Fetal Intestine Large	intestine
48	chr11:17407800-17409200	Enhancers	GM12878-XiMat	blood
49	chr11:17407800-17410400	Enhancers	Fetal Heart	heart
50	chr11:17408000-17408200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links