Variant report

Variant	nsv897683
Chromosome Location	chr11:64000087-64006292
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:417)
CpG islands
(count:551)
Chromatin interactive
region (count:24)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:417 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr11:64001575-64001910	A549	lung:	n/a	chr11:64001891-64001904 chr11:64001884-64001897 chr11:64001889-64001898
2	BHLHE40	chr11:64002377-64002511	K562	blood:	n/a	n/a
3	BHLHE40	chr11:64002338-64002552	HepG2	liver:	n/a	n/a
4	BHLHE40	chr11:64001843-64002037	GM12878	blood:	n/a	n/a
5	BHLHE40	chr11:64002339-64002547	GM12878	blood:	n/a	n/a
6	CBX3	chr11:64002990-64003263	K562	blood:	n/a	n/a
7	CBX3	chr11:64002916-64003287	K562	blood:	n/a	n/a
8	CCNT2	chr11:64001644-64001953	K562	blood:	n/a	chr11:64001788-64001797
9	CCNT2	chr11:64002284-64002654	K562	blood:	n/a	chr11:64002598-64002607
10	CEBPB	chr11:64000677-64000846	K562	blood:	n/a	n/a
11	CEBPD	chr11:64002472-64002793	HepG2	liver:	n/a	n/a
12	CHD2	chr11:64001702-64001939	Hela-S3	cervix:	n/a	chr11:64001894-64001904
13	CHD2	chr11:64001736-64001910	GM12878	blood:	n/a	chr11:64001894-64001904
14	CHD2	chr11:64005061-64005383	HepG2	liver:	n/a	n/a
15	CHD2	chr11:64002527-64002571	GM12878	blood:	n/a	n/a
16	CHD2	chr11:64002374-64002624	Hela-S3	cervix:	n/a	n/a
17	CREB1	chr11:64001604-64002013	A549	lung:	n/a	n/a
18	CREB1	chr11:64002264-64002615	A549	lung:	n/a	n/a
19	CTCF	chr11:64002311-64002320	GM12892	blood:	n/a	n/a
20	CTCF	chr11:64002289-64002320	K562	blood:	n/a	n/a
21	CTCF	chr11:64002260-64002410	HCPEpiC	choroid plexus:	n/a	n/a
22	CTCF	chr11:64002200-64002350	GM12875	blood:	n/a	n/a
23	CTCF	chr11:64002291-64002369	Kidney_OC	kidney:	n/a	n/a
24	CTCF	chr11:64005020-64005170	HepG2	liver:	n/a	n/a
25	CTCF	chr11:64005146-64005252	Pancreas_OC	pancreas:	n/a	chr11:64005201-64005219 chr11:64005204-64005217
26	CTCF	chr11:64002240-64002390	GM12865	blood:	n/a	n/a
27	CTCF	chr11:64002300-64002450	GM12878	blood:	n/a	n/a
28	CTCF	chr11:64001485-64001919	H1-hESC	embryonic stem cell:	n/a	chr11:64001892-64001905
29	CTCF	chr11:64002240-64002390	GM12871	blood:	n/a	n/a
30	CTCF	chr11:64002050-64002571	K562	blood:	n/a	chr11:64002513-64002526
31	CTCF	chr11:64002220-64002370	HUVEC	blood vessel:	n/a	n/a
32	CTCF	chr11:64002176-64002461	IMR90	lung:	n/a	n/a
33	CTCF	chr11:64002260-64002410	NHEK	skin:	n/a	n/a
34	CTCF	chr11:64002280-64002430	HEK293	kidney:	n/a	n/a
35	CTCF	chr11:64002241-64002407	GM19238	blood:	n/a	n/a
36	CTCF	chr11:64002220-64002370	AoAF	blood vessel:	n/a	n/a
37	CTCF	chr11:64002200-64002350	HepG2	liver:	n/a	n/a
38	CTCF	chr11:64002220-64002370	GM12873	blood:	n/a	n/a
39	CTCF	chr11:64002233-64002371	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr11:64002300-64002332	Fibrobl	skin:	n/a	n/a
41	CTCF	chr11:64002500-64002650	AG04449	skin:	n/a	chr11:64002513-64002526
42	CTCF	chr11:64002310-64002345	NHEK	skin:	n/a	n/a
43	CTCF	chr11:64002220-64002370	WERI-Rb-1	eye:	n/a	n/a
44	CTCF	chr11:64005060-64005210	SAEC	small airway:	n/a	n/a
45	CTCF	chr11:64002300-64002337	MCF-7	breast:	n/a	n/a
46	CTCF	chr11:64002200-64002350	GM12864	blood:	n/a	n/a
47	CTCF	chr11:64002400-64002550	GM12866	blood:	n/a	chr11:64002513-64002526
48	CTCF	chr11:64002200-64002350	SAEC	small airway:	n/a	n/a
49	CTCF	chr11:64002096-64002476	K562	blood:	n/a	n/a
50	CTCF	chr11:64002240-64002390	HepG2	liver:	n/a	n/a

(count:551 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:64002635-64002685	Caco-2	colon:	n/a
2	chr11:64001996-64002046	NT2-D1	testis:	n/a
3	chr11:64002635-64002685	Caco-2	colon:	n/a
4	chr11:64001996-64002046	NT2-D1	testis:	n/a
5	chr11:64001712-64001762	SKMC	muscle:	n/a
6	chr11:64002635-64002685	IMR90	lung:	fetal
7	chr11:64001094-64001144	PANC-1	pancreas:	n/a
8	chr11:64002754-64002804	SK-N-SH_RA	brain:	n/a
9	chr11:64001712-64001762	PANC-1	pancreas:	n/a
10	chr11:64001712-64001762	HCPEpiC	choroid plexus:	n/a
11	chr11:64002635-64002685	HCT-116	colon:	n/a
12	chr11:64001996-64002046	HRCEpiC	kidney:	n/a
13	chr11:64002754-64002804	Hela-S3	cervix:	n/a
14	chr11:64001094-64001144	GM06990	blood:	n/a
15	chr11:64001712-64001762	HRCEpiC	kidney:	n/a
16	chr11:64002298-64002348	HCF	heart:	n/a
17	chr11:64001994-64002044	PFSK-1	brain:	n/a
18	chr11:64002298-64002348	HAEpiC	amniotic membrane:	n/a
19	chr11:64001712-64001762	IMR90	lung:	fetal
20	chr11:64001996-64002046	HCM	heart:	n/a
21	chr11:64002754-64002804	GM12892	blood:	n/a
22	chr11:64002754-64002804	ECC-1	luminal epithelium:	n/a
23	chr11:64001094-64001144	HRCEpiC	kidney:	n/a
24	chr11:64001994-64002044	ECC-1	luminal epithelium:	n/a
25	chr11:64002298-64002348	PANC-1	pancreas:	n/a
26	chr11:64002295-64002345	PrEC	prostate:	n/a
27	chr11:64002635-64002685	NT2-D1	testis:	n/a
28	chr11:64005428-64005478	CMK	blood:	n/a
29	chr11:64001994-64002044	NT2-D1	testis:	n/a
30	chr11:64001996-64002046	HNPCEpiC	eye:	n/a
31	chr11:64002298-64002348	HPAEpiC	pulmonary alveolar:	n/a
32	chr11:64002635-64002685	K562	blood:	n/a
33	chr11:64005428-64005478	HRCEpiC	kidney:	n/a
34	chr11:64002295-64002345	HL-60	blood:	n/a
35	chr11:64002754-64002804	NHDF-neo	bronchial:	n/a
36	chr11:64002635-64002685	NH-A	brain:	n/a
37	chr11:64005428-64005478	PFSK-1	brain:	n/a
38	chr11:64001712-64001762	T-47D	breast:	n/a
39	chr11:64001712-64001762	HNPCEpiC	eye:	n/a
40	chr11:64002754-64002804	SKMC	muscle:	n/a
41	chr11:64001712-64001762	AoSMC	blood vessel:	n/a
42	chr11:64002295-64002345	HepG2	liver:	n/a
43	chr11:64001994-64002044	PrEC	prostate:	n/a
44	chr11:64001712-64001762	HepG2	liver:	n/a
45	chr11:64002298-64002348	HepG2	liver:	n/a
46	chr11:64002635-64002685	ECC-1	luminal epithelium:	n/a
47	chr11:64002754-64002804	Caco-2	colon:	n/a
48	chr11:64002298-64002348	HMEC	breast:	n/a
49	chr11:64005428-64005478	MCF-7	breast:	n/a
50	chr11:64001994-64002044	CMK	blood:	n/a

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64001331..64003379-chr11:64062439..64064683,2	MCF-7	breast:
2	chr11:63952913..63955052-chr11:64000550..64003768,4	MCF-7	breast:
3	chr11:64000315..64002426-chr11:64053899..64055582,2	MCF-7	breast:
4	chr11:64006071..64007767-chr11:64081275..64082893,2	MCF-7	breast:
5	chr11:63998837..64000808-chr11:64079142..64081596,2	MCF-7	breast:
6	chr11:64000008..64002901-chr11:64125113..64127418,2	MCF-7	breast:
7	chr11:64001193..64003368-chr11:64108712..64111498,2	MCF-7	breast:
8	chr11:64005251..64012775-chr11:64065543..64076594,19	MCF-7	breast:
9	chr11:63931932..63936018-chr11:63996543..64001155,4	MCF-7	breast:
10	chr11:63932405..63934131-chr11:64004230..64006451,2	MCF-7	breast:
11	chr11:64003822..64006272-chr11:64058913..64060452,2	MCF-7	breast:
12	chr11:64003628..64022712-chr11:64064086..64078429,56	MCF-7	breast:
13	chr11:64001215..64003769-chr11:64062719..64064324,2	MCF-7	breast:
14	chr11:64001124..64003237-chr5:180669340..180672210,2	MCF-7	breast:
15	chr11:63950870..63952881-chr11:64001401..64003560,2	MCF-7	breast:
16	chr11:63994757..64000133-chr11:64050787..64054663,5	MCF-7	breast:
17	chr11:64001901..64002697-chr15:65596667..65597412,2	HCT-116	colon:
18	chr11:63933271..63935059-chr11:64002653..64006652,3	MCF-7	breast:
19	chr11:64004816..64010809-chr11:64048058..64057254,13	MCF-7	breast:
20	chr11:64006100..64009452-chr11:64096947..64099274,3	K562	blood:
21	chr11:64001731..64003390-chr11:64072435..64074262,2	MCF-7	breast:
22	chr11:64001770..64003427-chr11:64071826..64073538,2	MCF-7	breast:
23	chr11:64004012..64005762-chr11:64124323..64126720,2	MCF-7	breast:
24	chr11:63997990..64000103-chr11:64070945..64073334,3	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DNAJC4-3	chr11:64005828-64006259	NONHSAT021969
2	lnc-DNAJC4-3	chr11:64004993-64005127	NONHSAT021969
3	lnc-TRPT1-1	chr11:64001666-64001824	ENSG00000256116.1
4	lnc-DNAJC4-1	chr11:64000964-64001452	NONHSAT021966
5	lnc-DNAJC4-1	chr11:64001545-64001758	NONHSAT021966
6	lnc-DNAJC4-3	chr11:64004599-64004694	NONHSAT021969

No data

Variant related genes	Relation type
FKBP2	TF binding region
DNAJC4	TF binding region
ENSG00000256116	TF binding region
VEGFB	TF binding region
FKBP2	CpG island
DNAJC4	CpG island
ENSG00000256116	CpG island
VEGFB	CpG island
ENSG00000182450	chromatin interactions
ENSG00000133315	chromatin interactions
ENSG00000236935	chromatin interactions
ENSG00000204628	chromatin interactions
ENSG00000219435	chromatin interactions
ENSG00000200156	chromatin interactions
ENSG00000257069	chromatin interactions
ENSG00000173264	chromatin interactions
ENSG00000168439	chromatin interactions
ENSG00000162302	chromatin interactions
ENSG00000002330	chromatin interactions
ENSG00000264549	chromatin interactions
ENSG00000207024	chromatin interactions
ENSG00000173153	chromatin interactions
ENSG00000168071	chromatin interactions

Extended variants
information (count: 392 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:392 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113915915	chr11:64000087-64000088	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs150439143	chr11:64000114-64000115	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs372252507	chr11:64000194-64000195	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs375673802	chr11:64000203-64000204	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs200012234	chr11:64000210-64000211	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs372029552	chr11:64000221-64000222	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs375366918	chr11:64000232-64000233	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs569307400	chr11:64000245-64000246	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs528015044	chr11:64000278-64000279	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs369087127	chr11:64000299-64000300	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs373704240	chr11:64000307-64000308	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs376654464	chr11:64000308-64000309	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs369841577	chr11:64000325-64000326	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs373570962	chr11:64000347-64000348	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs199630430	chr11:64000352-64000353	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs185194474	chr11:64000356-64000357	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs61760059	chr11:64000368-64000369	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs537305641	chr11:64000371-64000372	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs373287362	chr11:64000374-64000375	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs556644416	chr11:64000388-64000389	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs3179076	chr11:64000403-64000404	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs1058735	chr11:64000410-64000411	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs545554393	chr11:64000421-64000422	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs570661860	chr11:64000432-64000433	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs370652618	chr11:64000452-64000453	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs572467394	chr11:64000462-64000463	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs539669155	chr11:64000595-64000596	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs35090903	chr11:64000598-64000599	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs61761261	chr11:64000646-64000647	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs530370909	chr11:64000667-64000668	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs138210317	chr11:64000671-64000672	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs607873	chr11:64000744-64000745	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs550861201	chr11:64000767-64000768	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs61761262	chr11:64000802-64000803	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	mRNA abundance
35	rs551727059	chr11:64000847-64000848	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs372289342	chr11:64000858-64000859	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs565654126	chr11:64000871-64000872	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs534676053	chr11:64000883-64000884	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs547852910	chr11:64000951-64000952	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs559820688	chr11:64001002-64001003	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
41	rs34564522	chr11:64001039-64001040	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
42	rs548086475	chr11:64001064-64001065	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
43	rs188525586	chr11:64001127-64001128	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
44	rs537387369	chr11:64001152-64001153	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
45	rs557279661	chr11:64001216-64001217	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
46	rs61761263	chr11:64001237-64001238	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs527443627	chr11:64001244-64001245	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
48	rs558950079	chr11:64001248-64001249	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
49	rs751154	chr11:64001291-64001292	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
50	rs572448625	chr11:64001305-64001306	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Acute myeloid leukemia	20729466	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
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	21785460	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Prostate cancer	18779856	CNVD
Cancer	17160897	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD

Chromatin state (count:951 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63994600-64001200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:63998200-64001000	Enhancers	Fetal Brain Male	brain
3	chr11:63998600-64000200	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr11:63998600-64000400	Enhancers	Gastric	stomach
5	chr11:63998600-64001000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr11:63998600-64001000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr11:63998600-64001200	Weak transcription	Aorta	Aorta
8	chr11:63998600-64001200	Weak transcription	Small Intestine	intestine
9	chr11:63998600-64001400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr11:63998600-64001400	Enhancers	Lung	lung
11	chr11:63998800-64000200	Enhancers	Primary T cells from cord blood	blood
12	chr11:63998800-64000200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:63998800-64000400	Enhancers	Stomach Mucosa	stomach
14	chr11:63998800-64000600	Enhancers	Right Ventricle	heart
15	chr11:63998800-64000600	Enhancers	A549	lung
16	chr11:63998800-64000800	Weak transcription	NHLF	lung
17	chr11:63998800-64001000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr11:63998800-64001000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:63998800-64001000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr11:63998800-64001000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr11:63998800-64001000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:63998800-64001000	Weak transcription	Adipose Nuclei	Adipose
23	chr11:63998800-64001000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:63998800-64001000	Weak transcription	Brain Substantia Nigra	brain
25	chr11:63998800-64001000	Enhancers	Colon Smooth Muscle	Colon
26	chr11:63998800-64001000	Enhancers	Esophagus	oesophagus
27	chr11:63998800-64001000	Weak transcription	Fetal Kidney	kidney
28	chr11:63998800-64001000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr11:63998800-64001000	Enhancers	Placenta	Placenta
30	chr11:63998800-64001000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr11:63998800-64001000	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr11:63998800-64001000	Weak transcription	HUVEC	blood vessel
33	chr11:63998800-64001200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr11:63998800-64001200	Enhancers	Primary T cells fromperipheralblood	blood
35	chr11:63998800-64001200	Enhancers	Primary hematopoietic stem cells	blood
36	chr11:63998800-64001200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr11:63998800-64001200	Enhancers	Fetal Heart	heart
38	chr11:63998800-64001200	Enhancers	Fetal Intestine Large	intestine
39	chr11:63998800-64001200	Enhancers	Fetal Muscle Trunk	muscle
40	chr11:63998800-64001200	Enhancers	Fetal Muscle Leg	muscle
41	chr11:63998800-64001200	Enhancers	Pancreas	Pancrea
42	chr11:63998800-64001200	Weak transcription	Right Atrium	heart
43	chr11:63998800-64001200	Weak transcription	HMEC	breast
44	chr11:63998800-64001200	Weak transcription	HSMM	muscle
45	chr11:63998800-64001200	Weak transcription	HSMMtube	muscle
46	chr11:63998800-64001200	Weak transcription	NH-A	brain
47	chr11:63998800-64001400	Enhancers	Primary B cells from peripheral blood	blood
48	chr11:63998800-64001400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr11:63998800-64001400	Enhancers	Fetal Thymus	thymus
50	chr11:63998800-64001400	Weak transcription	Psoas Muscle	Psoas

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