Variant report

Variant	nsv555635
Chromosome Location	chr11:85430397-85470893
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:566)
CpG islands
(count:1037)
Chromatin interactive
region (count:88)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:566 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr11:85437160-85437164	K562	blood:	n/a	n/a
2	ATF3	chr11:85430045-85430590	HCT-116	colon:	n/a	n/a
3	ATF3	chr11:85437022-85437235	K562	blood:	n/a	n/a
4	ATF3	chr11:85459311-85459985	A549	lung:	n/a	n/a
5	ATF3	chr11:85429941-85430582	A549	lung:	n/a	n/a
6	BCL3	chr11:85429956-85430607	A549	lung:	n/a	n/a
7	BCL3	chr11:85459306-85460048	A549	lung:	n/a	n/a
8	BCL3	chr11:85429789-85430630	A549	lung:	n/a	n/a
9	CBX3	chr11:85434014-85434630	HCT-116	colon:	n/a	n/a
10	CBX3	chr11:85436571-85437484	HCT-116	colon:	n/a	n/a
11	CBX3	chr11:85429945-85430631	HCT-116	colon:	n/a	n/a
12	CBX3	chr11:85436418-85437521	HCT-116	colon:	n/a	n/a
13	CBX3	chr11:85433968-85434612	HCT-116	colon:	n/a	n/a
14	CEBPB	chr11:85433957-85434215	K562	blood:	n/a	chr11:85434072-85434085 chr11:85434073-85434084 chr11:85434074-85434083
15	CEBPB	chr11:85435856-85436163	IMR90	lung:	n/a	chr11:85435989-85436000
16	CEBPB	chr11:85436954-85437343	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr11:85450575-85450778	K562	blood:	n/a	chr11:85450662-85450673 chr11:85450663-85450674
18	CEBPB	chr11:85460646-85460756	HepG2	liver:	n/a	n/a
19	CEBPB	chr11:85450530-85450847	HepG2	liver:	n/a	chr11:85450662-85450673 chr11:85450663-85450674
20	CEBPB	chr11:85435902-85436102	K562	blood:	n/a	chr11:85435989-85436000
21	CEBPB	chr11:85460665-85460721	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr11:85433923-85434245	IMR90	lung:	n/a	chr11:85434072-85434085 chr11:85434073-85434084 chr11:85434074-85434083
23	CEBPB	chr11:85457839-85458035	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr11:85433970-85434233	A549	lung:	n/a	chr11:85434072-85434085 chr11:85434073-85434084 chr11:85434074-85434083
25	CEBPB	chr11:85453740-85454559	HCT-116	colon:	n/a	n/a
26	CEBPB	chr11:85450545-85450852	Hela-S3	cervix:	n/a	chr11:85450662-85450673 chr11:85450663-85450674
27	CEBPB	chr11:85459303-85459997	A549	lung:	n/a	n/a
28	CEBPB	chr11:85435845-85436161	HepG2	liver:	n/a	chr11:85435989-85436000
29	CEBPB	chr11:85470887-85471251	MCF-7	breast:	n/a	n/a
30	CEBPB	chr11:85436706-85437444	HCT-116	colon:	n/a	n/a
31	CEBPB	chr11:85429913-85430587	A549	lung:	n/a	n/a
32	CEBPB	chr11:85461891-85462184	IMR90	lung:	n/a	n/a
33	CEBPB	chr11:85460565-85460818	A549	lung:	n/a	n/a
34	CEBPB	chr11:85429913-85430649	HCT-116	colon:	n/a	n/a
35	CEBPB	chr11:85433983-85434244	HepG2	liver:	n/a	chr11:85434072-85434085 chr11:85434073-85434084 chr11:85434074-85434083
36	CEBPB	chr11:85429496-85430455	IMR90	lung:	n/a	n/a
37	CEBPB	chr11:85436811-85437316	HCT-116	colon:	n/a	n/a
38	CEBPB	chr11:85433879-85434592	MCF-7	breast:	n/a	chr11:85434072-85434085 chr11:85434073-85434084 chr11:85434074-85434083
39	CEBPB	chr11:85459571-85460198	A549	lung:	n/a	n/a
40	CEBPB	chr11:85451606-85451830	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr11:85450526-85450834	A549	lung:	n/a	chr11:85450662-85450673 chr11:85450663-85450674
42	CEBPB	chr11:85470816-85471428	HCT-116	colon:	n/a	n/a
43	CEBPB	chr11:85435889-85436106	Hela-S3	cervix:	n/a	chr11:85435989-85436000
44	CEBPB	chr11:85469749-85469863	A549	lung:	n/a	chr11:85469817-85469826
45	CEBPB	chr11:85435842-85436151	A549	lung:	n/a	chr11:85435989-85436000
46	CEBPB	chr11:85454000-85454341	Hela-S3	cervix:	n/a	n/a
47	CEBPB	chr11:85433865-85434608	MCF-7	breast:	n/a	chr11:85434072-85434085 chr11:85434073-85434084 chr11:85434074-85434083
48	CTBP2	chr11:85429977-85430772	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr11:85436700-85436850	HMEC	breast:	n/a	n/a
50	CTCF	chr11:85436660-85436810	RPTEC	kidney:	n/a	n/a

(count:1037 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:85430657-85430707	GM19239	blood:	n/a
2	chr11:85430657-85430707	BE2_C	brain:	n/a
3	chr11:85430629-85430679	BE2_C	brain:	n/a
4	chr11:85469117-85469167	RPTEC	kidney:	n/a
5	chr11:85430657-85430707	Hepatocyte	liver:	n/a
6	chr11:85453669-85453719	HNPCEpiC	eye:	n/a
7	chr11:85437589-85437639	HPAEpiC	pulmonary alveolar:	n/a
8	chr11:85469037-85469087	GM06990	blood:	n/a
9	chr11:85436135-85436185	GM12878	blood:	n/a
10	chr11:85469247-85469297	HCF	heart:	n/a
11	chr11:85469117-85469167	NB4	blood:	n/a
12	chr11:85469117-85469167	NH-A	brain:	n/a
13	chr11:85469117-85469167	HCF	heart:	n/a
14	chr11:85430657-85430707	HCF	heart:	n/a
15	chr11:85437579-85437629	U87	brain:	n/a
16	chr11:85470458-85470508	MCF-7	breast:	n/a
17	chr11:85430657-85430707	HCM	heart:	n/a
18	chr11:85437589-85437639	ECC-1	luminal epithelium:	n/a
19	chr11:85430634-85430684	HEK293	kidney:	embryo
20	chr11:85430634-85430684	NH-A	brain:	n/a
21	chr11:85451557-85451607	GM06990	blood:	n/a
22	chr11:85469919-85469969	ProgFib	skin:	n/a
23	chr11:85453669-85453719	CMK	blood:	n/a
24	chr11:85430634-85430684	U87	brain:	n/a
25	chr11:85438818-85438868	HRE	kidney:	n/a
26	chr11:85437579-85437629	PANC-1	pancreas:	n/a
27	chr11:85438818-85438868	HCPEpiC	choroid plexus:	n/a
28	chr11:85437579-85437629	PrEC	prostate:	n/a
29	chr11:85469037-85469087	PFSK-1	brain:	n/a
30	chr11:85436135-85436185	SK-N-SH_RA	brain:	n/a
31	chr11:85469037-85469087	NHBE	bronchial:	n/a
32	chr11:85453669-85453719	HCM	heart:	n/a
33	chr11:85430629-85430679	HMEC	breast:	n/a
34	chr11:85437589-85437639	RPTEC	kidney:	n/a
35	chr11:85469117-85469167	HL-60	blood:	n/a
36	chr11:85460604-85460654	HCPEpiC	choroid plexus:	n/a
37	chr11:85469919-85469969	RPTEC	kidney:	n/a
38	chr11:85437589-85437639	AG04450	lung:	fetal
39	chr11:85436135-85436185	NHDF-neo	bronchial:	n/a
40	chr11:85430634-85430684	CMK	blood:	n/a
41	chr11:85470458-85470508	MCF10A-Er-Src	breast:	n/a
42	chr11:85430634-85430684	HL-60	blood:	n/a
43	chr11:85469247-85469297	ovcar-3	ovarian:	n/a
44	chr11:85430634-85430684	PANC-1	pancreas:	n/a
45	chr11:85437579-85437629	HCPEpiC	choroid plexus:	n/a
46	chr11:85438947-85438997	LNCaP	prostate:	n/a
47	chr11:85430634-85430684	AG09309	skin:	n/a
48	chr11:85469247-85469297	PrEC	prostate:	n/a
49	chr11:85438947-85438997	SK-N-SH	brain:	n/a
50	chr11:85469919-85469969	NH-A	brain:	n/a

(count:88 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:85430781..85433694-chr11:85551714..85553918,2	MCF-7	breast:
2	chr11:85449141..85453316-chr11:85456820..85460896,4	MCF-7	breast:
3	chr11:85374169..85377247-chr11:85434867..85438072,3	MCF-7	breast:
4	chr11:85444504..85447684-chr11:85505412..85508647,3	MCF-7	breast:
5	chr11:85445267..85447565-chr11:85447614..85449688,2	MCF-7	breast:
6	chr11:85459647..85463395-chr11:85466382..85468116,3	K562	blood:
7	chr11:85466013..85467547-chr11:85470379..85472711,2	MCF-7	breast:
8	chr11:85447296..85450521-chr11:85450822..85453106,4	MCF-7	breast:
9	chr11:85432781..85434564-chr11:85442681..85445528,2	MCF-7	breast:
10	chr11:85456882..85459698-chr17:57916750..57918708,2	MCF-7	breast:
11	chr11:85438614..85440584-chr11:85468892..85470720,2	MCF-7	breast:
12	chr11:85414305..85416177-chr11:85432869..85434542,2	MCF-7	breast:
13	chr11:85457148..85461266-chr11:85520193..85525185,6	MCF-7	breast:
14	chr11:85457955..85460944-chr11:85541331..85543778,2	MCF-7	breast:
15	chr11:85447110..85449601-chr11:85539919..85542813,2	MCF-7	breast:
16	chr11:85445751..85448371-chr11:85941133..85943891,2	MCF-7	breast:
17	chr11:85459682..85462503-chr11:85466829..85468700,3	MCF-7	breast:
18	chr11:85338344..85340985-chr11:85434050..85436369,2	K562	blood:
19	chr11:85461323..85463573-chr11:85539177..85540857,2	MCF-7	breast:
20	chr11:85460961..85463869-chr11:85465217..85468287,3	MCF-7	breast:
21	chr11:85438614..85440584-chr11:85468892..85470720,2	MCF-7	breast:
22	chr11:85434348..85438681-chr11:85520824..85523815,4	MCF-7	breast:
23	chr11:85434008..85435703-chr11:85538641..85540808,2	MCF-7	breast:
24	chr11:85446235..85448098-chr11:85532932..85535818,2	MCF-7	breast:
25	chr11:85449141..85453316-chr11:85456820..85460896,4	MCF-7	breast:
26	chr11:85449862..85452666-chr3:62852459..62854509,2	MCF-7	breast:
27	chr11:85456348..85458453-chr11:85459854..85462602,2	K562	blood:
28	chr11:85447416..85450012-chr11:85465090..85467738,2	MCF-7	breast:
29	chr11:85470232..85471819-chr11:85473605..85475832,2	K562	blood:
30	chr11:85433132..85435744-chr11:85522806..85525692,2	MCF-7	breast:
31	chr11:85452340..85455544-chr11:85456750..85459606,3	K562	blood:
32	chr11:85470667..85472897-chr11:85479422..85481165,2	K562	blood:
33	chr11:85456897..85461654-chr11:85539528..85543738,6	MCF-7	breast:
34	chr11:85451589..85453294-chr11:85503015..85505521,2	MCF-7	breast:
35	chr11:85434029..85438059-chr11:85455702..85460015,5	MCF-7	breast:
36	chr11:85447296..85450521-chr11:85450822..85453106,4	MCF-7	breast:
37	chr11:85446570..85449228-chr11:85451047..85454870,3	MCF-7	breast:
38	chr11:85459647..85464805-chr11:85466382..85469125,4	K562	blood:
39	chr11:85374651..85376629-chr11:85434195..85435833,2	MCF-7	breast:
40	chr11:85453893..85455528-chr11:85457587..85459184,2	MCF-7	breast:
41	chr11:85433923..85435734-chr11:85518099..85520604,2	MCF-7	breast:
42	chr11:85404945..85406929-chr11:85457970..85459498,2	MCF-7	breast:
43	chr11:85461055..85463214-chr11:85468718..85471214,2	MCF-7	breast:
44	chr11:85449386..85450931-chr11:85453758..85455391,2	K562	blood:
45	chr11:85453675..85456598-chr11:85463651..85465546,2	MCF-7	breast:
46	chr11:85459647..85463395-chr11:85466382..85468116,3	K562	blood:
47	chr11:85427809..85429920-chr11:85433567..85435878,3	MCF-7	breast:
48	chr11:85434042..85436173-chr11:85445300..85448317,5	MCF-7	breast:
49	chr11:85456923..85462918-chr11:85517727..85523482,9	MCF-7	breast:
50	chr11:85456354..85459698-chr11:85460209..85463531,4	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC89-7	chr11:85455444-85456066	expReg_chr11_8320_-
2	lnc-AP000974.1-1	chr11:85468803-85469112	NONHSAT023448
3	lnc-CCDC89-6	chr11:85452619-85452847	expReg_chr11_8315_-

No data

Variant related genes	Relation type
SYTL2	TF binding region
SYTL2	CpG island
ENSG00000171204	chromatin interactions
ENSG00000137504	chromatin interactions
ENSG00000199004	chromatin interactions
ENSG00000137501	chromatin interactions
ENSG00000150672	chromatin interactions

Extended variants
information (count: 1656 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1656 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs678376	chr11:85430397-85430398	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs547726011	chr11:85430411-85430412	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs566018715	chr11:85430414-85430415	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs536474757	chr11:85430427-85430428	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs555111333	chr11:85430433-85430434	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs547828170	chr11:85430437-85430438	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs537107751	chr11:85430439-85430440	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs3216102	chr11:85430443-85430444	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs570060856	chr11:85430485-85430486	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs595340	chr11:85430488-85430489	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs113467944	chr11:85430522-85430523	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs507737	chr11:85430536-85430537	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs559089215	chr11:85430538-85430539	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs577349700	chr11:85430543-85430544	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs570242591	chr11:85430548-85430549	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs183207231	chr11:85430551-85430552	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs371833910	chr11:85430558-85430559	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs112447673	chr11:85430570-85430571	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs555444831	chr11:85430608-85430609	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs187942451	chr11:85430635-85430636	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs541677404	chr11:85430638-85430639	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs563459704	chr11:85430727-85430728	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs192514812	chr11:85430774-85430775	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs545988296	chr11:85430793-85430794	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs545932802	chr11:85430807-85430808	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs147216872	chr11:85430857-85430858	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs185123723	chr11:85430861-85430862	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs546168289	chr11:85430867-85430868	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs566053757	chr11:85430936-85430937	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs530378106	chr11:85431038-85431039	Enhancers Weak transcription Strong transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs201710921	chr11:85431074-85431075	Enhancers Weak transcription Strong transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs562599374	chr11:85431098-85431099	Enhancers Weak transcription Strong transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs548500538	chr11:85431110-85431111	Enhancers Weak transcription Strong transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs539292544	chr11:85431119-85431120	Enhancers Weak transcription Strong transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs374939045	chr11:85431167-85431168	Enhancers Weak transcription Strong transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs576168071	chr11:85431178-85431179	Enhancers Weak transcription Strong transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs376762225	chr11:85431237-85431238	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs144182163	chr11:85431249-85431250	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs79628503	chr11:85431309-85431310	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs113150175	chr11:85431310-85431311	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs570934529	chr11:85431312-85431313	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs188459920	chr11:85431315-85431316	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs553366743	chr11:85431380-85431381	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs290194	chr11:85431413-85431414	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs192869268	chr11:85431491-85431492	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs115321812	chr11:85431549-85431550	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs575438510	chr11:85431575-85431576	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs368635381	chr11:85431634-85431635	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs545580127	chr11:85431743-85431744	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs7116742	chr11:85431755-85431756	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	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
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Colorectal cancer	16912164	CNVD
Mental retardation	17847001	CNVD
Melanoma	19509136	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ductal carcinoma	22052326	CNVD
Obesity	20622171	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Attention deficit hyperactivity disorder	22241247	CNVD
Breast cancer	21958427	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	17440070	CNVD

Chromatin state (count:1119 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85397200-85438600	Weak transcription	Colonic Mucosa	Colon
2	chr11:85412000-85436800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr11:85412000-85438000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr11:85417600-85453000	Weak transcription	Gastric	stomach
5	chr11:85418400-85436400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr11:85422600-85448600	Weak transcription	Fetal Intestine Large	intestine
7	chr11:85422800-85448200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr11:85424000-85448600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr11:85427000-85430600	Strong transcription	Rectal Mucosa Donor 31	rectum
10	chr11:85427200-85430600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr11:85427200-85430600	Active TSS	Fetal Muscle Trunk	muscle
12	chr11:85427200-85433000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:85427400-85430600	Active TSS	HSMMtube	muscle
14	chr11:85427600-85430400	Active TSS	NHDF-Ad	bronchial
15	chr11:85427800-85430600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:85428200-85430600	Active TSS	HSMM	muscle
17	chr11:85428400-85430600	Active TSS	Brain Angular Gyrus	brain
18	chr11:85428600-85430800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr11:85428600-85431000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:85428600-85432000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr11:85428800-85430400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:85429000-85430600	Active TSS	Brain Hippocampus Middle	brain
23	chr11:85429000-85430600	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr11:85429000-85430600	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr11:85429400-85430400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:85429400-85430800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:85429400-85431000	Enhancers	HMEC	breast
28	chr11:85429400-85431200	Active TSS	Brain Anterior Caudate	brain
29	chr11:85429400-85432200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:85429600-85430400	Flanking Active TSS	Fetal Heart	heart
31	chr11:85429600-85430400	Active TSS	Right Atrium	heart
32	chr11:85429600-85430600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr11:85429600-85430600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr11:85429600-85430600	Active TSS	Brain Substantia Nigra	brain
35	chr11:85429600-85430800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:85429600-85430800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr11:85429600-85430800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr11:85429600-85430800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr11:85429600-85430800	Flanking Active TSS	Fetal Muscle Leg	muscle
40	chr11:85429600-85430800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr11:85429600-85432000	Strong transcription	Primary T cells from cord blood	blood
42	chr11:85429800-85430400	Flanking Active TSS	H9 Cell Line	embryonic stem cell
43	chr11:85429800-85430400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr11:85429800-85430400	Active TSS	Aorta	Aorta
45	chr11:85429800-85430400	Flanking Active TSS	Brain Germinal Matrix	brain
46	chr11:85429800-85430400	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
47	chr11:85429800-85430400	Active TSS	Rectal Smooth Muscle	rectum
48	chr11:85429800-85430400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr11:85429800-85430400	Genic enhancers	Stomach Mucosa	stomach
50	chr11:85429800-85430600	Active TSS	ES-WA7 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links