Variant report

Variant	esv3322945
Chromosome Location	chr11:64110026-64111024
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:361)
CpG islands
(count:244)
Chromatin interactive
region (count:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:361 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr11:64109867-64110157	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr11:64110643-64110839	K562	blood:	n/a	n/a
3	BHLHE40	chr11:64109847-64110235	K562	blood:	n/a	n/a
4	BRCA1	chr11:64109942-64110279	Hela-S3	cervix:	n/a	n/a
5	BRCA1	chr11:64109886-64110172	H1-hESC	embryonic stem cell:	n/a	n/a
6	CBX3	chr11:64109747-64110298	K562	blood:	n/a	n/a
7	CCNT2	chr11:64109507-64110283	K562	blood:	n/a	chr11:64109713-64109722
8	CEBPB	chr11:64109948-64110065	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr11:64109959-64110215	Hela-S3	cervix:	n/a	n/a
10	CHD2	chr11:64109944-64110047	HepG2	liver:	n/a	n/a
11	CHD2	chr11:64109919-64110132	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD2	chr11:64109908-64110186	K562	blood:	n/a	chr11:64110174-64110184
13	CHD2	chr11:64109713-64110306	Hela-S3	cervix:	n/a	chr11:64110174-64110184
14	CREB1	chr11:64109875-64110311	A549	lung:	n/a	n/a
15	CTCF	chr11:64109929-64110215	Spleen_OC	spleen:	n/a	chr11:64110186-64110199
16	CTCF	chr11:64109980-64110130	HepG2	liver:	n/a	n/a
17	CTCF	chr11:64110020-64110170	GM12872	blood:	n/a	n/a
18	CTCF	chr11:64109980-64110130	HPF	lung:	n/a	n/a
19	CTCF	chr11:64109940-64110090	GM12878	blood:	n/a	n/a
20	CTCF	chr11:64110000-64110150	GM12870	blood:	n/a	n/a
21	CTCF	chr11:64110040-64110190	GM12874	blood:	n/a	n/a
22	CTCF	chr11:64109960-64110110	HEK293	kidney:	n/a	n/a
23	CTCF	chr11:64109784-64110329	MCF-7	breast:	n/a	chr11:64110186-64110199
24	CTCF	chr11:64109880-64110030	A549	lung:	n/a	n/a
25	CTCF	chr11:64109796-64110273	K562	blood:	n/a	chr11:64110186-64110199
26	CTCF	chr11:64110020-64110170	AG04450	lung:	n/a	n/a
27	CTCF	chr11:64109980-64110130	HPAF	blood vessel:	n/a	n/a
28	CTCF	chr11:64109922-64110197	LNCaP	prostate:	n/a	n/a
29	CTCF	chr11:64110020-64110170	GM12875	blood:	n/a	n/a
30	CTCF	chr11:64109920-64110070	MCF-7	breast:	n/a	n/a
31	CTCF	chr11:64110000-64110150	GM12866	blood:	n/a	n/a
32	CTCF	chr11:64110000-64110150	AG09319	gingival:	n/a	n/a
33	CTCF	chr11:64110040-64110190	MCF-7	breast:	n/a	n/a
34	CTCF	chr11:64110040-64110190	HMEC	breast:	n/a	n/a
35	CTCF	chr11:64109953-64110184	ProgFib	skin:	n/a	n/a
36	CTCF	chr11:64109920-64110070	AG04450	lung:	n/a	n/a
37	CTCF	chr11:64109940-64110090	AG09309	skin:	n/a	n/a
38	CTCF	chr11:64110000-64110150	GM12864	blood:	n/a	n/a
39	CTCF	chr11:64109980-64110130	HUVEC	blood vessel:	n/a	n/a
40	CTCF	chr11:64110000-64110150	HEK293	kidney:	n/a	n/a
41	CTCF	chr11:64110000-64110150	HA-sp	spinal cord:	n/a	n/a
42	CTCF	chr11:64110060-64110210	GM06990	blood:	n/a	chr11:64110186-64110199
43	CTCF	chr11:64109964-64110176	Gliobla	brain:	n/a	n/a
44	CTCF	chr11:64110040-64110190	HFF-Myc	foreskin:	n/a	n/a
45	CTCF	chr11:64110020-64110170	NHDF-neo	bronchial:	n/a	n/a
46	CTCF	chr11:64110020-64110170	HPAF	blood vessel:	n/a	n/a
47	CTCF	chr11:64109982-64110195	GM12892	blood:	n/a	n/a
48	CTCF	chr11:64110080-64110230	WI-38	lung:	n/a	chr11:64110186-64110199
49	CTCF	chr11:64109900-64110050	A549	lung:	n/a	n/a
50	CTCF	chr11:64110000-64110150	AG04449	skin:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:64110731-64110781	SKMC	muscle:	n/a
2	chr11:64110785-64110835	SKMC	muscle:	n/a
3	chr11:64110178-64110228	HCF	heart:	n/a
4	chr11:64110657-64110707	HUVEC	blood vessel:	n/a
5	chr11:64110785-64110835	HL-60	blood:	n/a
6	chr11:64110657-64110707	T-47D	breast:	n/a
7	chr11:64110785-64110835	HCPEpiC	choroid plexus:	n/a
8	chr11:64110178-64110228	SK-N-SH_RA	brain:	n/a
9	chr11:64110178-64110228	HL-60	blood:	n/a
10	chr11:64110657-64110707	GM19239	blood:	n/a
11	chr11:64110731-64110781	NH-A	brain:	n/a
12	chr11:64110178-64110228	HRE	kidney:	n/a
13	chr11:64110178-64110228	ECC-1	luminal epithelium:	n/a
14	chr11:64110731-64110781	AG04450	lung:	fetal
15	chr11:64110657-64110707	IMR90	lung:	fetal
16	chr11:64110731-64110781	SK-N-MC	brain:	n/a
17	chr11:64110178-64110228	MCF10A-Er-Src	breast:	n/a
18	chr11:64110731-64110781	H1-hESC	embryonic stem cell:	embryo
19	chr11:64110657-64110707	NH-A	brain:	n/a
20	chr11:64110178-64110228	GM12878	blood:	n/a
21	chr11:64110731-64110781	GM19239	blood:	n/a
22	chr11:64110785-64110835	MCF-7	breast:	n/a
23	chr11:64110731-64110781	A549	lung:	n/a
24	chr11:64110657-64110707	GM12878	blood:	n/a
25	chr11:64110657-64110707	AG10803	skin:	n/a
26	chr11:64110657-64110707	HPAEpiC	pulmonary alveolar:	n/a
27	chr11:64110731-64110781	BJ	skin:	n/a
28	chr11:64110785-64110835	U87	brain:	n/a
29	chr11:64110731-64110781	NHBE	bronchial:	n/a
30	chr11:64110178-64110228	NHBE	bronchial:	n/a
31	chr11:64110785-64110835	CMK	blood:	n/a
32	chr11:64110657-64110707	AG09309	skin:	n/a
33	chr11:64110785-64110835	K562	blood:	n/a
34	chr11:64110785-64110835	ProgFib	skin:	n/a
35	chr11:64110178-64110228	SKMC	muscle:	n/a
36	chr11:64110178-64110228	CMK	blood:	n/a
37	chr11:64110785-64110835	HRPEpiC	eye:	n/a
38	chr11:64110178-64110228	AG04450	lung:	fetal
39	chr11:64110657-64110707	AG04450	lung:	fetal
40	chr11:64110731-64110781	Hela-S3	cervix:	n/a
41	chr11:64110657-64110707	ProgFib	skin:	n/a
42	chr11:64110657-64110707	HIPEpiC	eye:	n/a
43	chr11:64110731-64110781	HCM	heart:	n/a
44	chr11:64110178-64110228	PrEC	prostate:	n/a
45	chr11:64110785-64110835	H1-hESC	embryonic stem cell:	embryo
46	chr11:64110785-64110835	ECC-1	luminal epithelium:	n/a
47	chr11:64110785-64110835	HepG2	liver:	n/a
48	chr11:64110178-64110228	AG04449	skin:	fetal
49	chr11:64110731-64110781	HEEpiC	esophagus:	n/a
50	chr11:64110731-64110781	HCF	heart:	n/a

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64012324..64016807-chr11:64110478..64112580,4	MCF-7	breast:
2	chr11:64109881..64111855-chr11:64133926..64136409,2	K562	blood:
3	chr11:64109671..64110552-chr11:64122307..64123186,2	K562	blood:
4	chr11:64008607..64011562-chr11:64108610..64113296,4	MCF-7	breast:
5	chr11:64036423..64038929-chr11:64108620..64112959,5	K562	blood:
6	chr11:64110456..64113002-chr11:64125236..64127679,2	MCF-7	breast:
7	chr11:64109688..64110714-chr11:64122196..64123136,4	MCF-7	breast:
8	chr11:64083618..64086276-chr11:64108878..64111761,4	K562	blood:
9	chr11:64072715..64075742-chr11:64108562..64111155,5	MCF-7	breast:
10	chr11:64109881..64112376-chr11:64133926..64136409,3	K562	blood:
11	chr11:64035871..64037932-chr11:64108620..64111379,2	K562	blood:
12	chr11:64108620..64111741-chr11:64119418..64122798,4	MCF-7	breast:
13	chr11:64108003..64110489-chr11:64126101..64127976,2	MCF-7	breast:
14	chr11:63932620..63934152-chr11:64110470..64112736,2	MCF-7	breast:
15	chr11:63951267..63954594-chr11:64105049..64110612,5	MCF-7	breast:
16	chr11:64085064..64087232-chr11:64106469..64111767,5	MCF-7	breast:
17	chr11:63972230..63976425-chr11:64106710..64112651,7	K562	blood:
18	chr11:64001193..64003368-chr11:64108712..64111498,2	MCF-7	breast:
19	chr11:64070411..64072227-chr11:64108642..64111595,2	MCF-7	breast:
20	chr10:74450774..74453542-chr11:64109200..64111337,2	MCF-7	breast:
21	chr11:64109644..64110611-chr6:2999990..3000529,2	Hela-S3	cervix:
22	chr11:63984496..63987106-chr11:64110759..64113104,2	K562	blood:
23	chr11:64068655..64075946-chr11:64105786..64111623,11	K562	blood:
24	chr11:64109734..64110285-chr11:64215936..64216556,2	MCF-7	breast:
25	chr11:64078839..64083408-chr11:64108257..64111409,4	MCF-7	breast:
26	chr11:64109106..64114264-chr11:64115033..64120054,6	MCF-7	breast:
27	chr11:64109596..64110152-chr19:11492123..11492864,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
CCDC88B	TF binding region
CCDC88B	CpG island
ENSG00000156026	chromatin interactions
ENSG00000173113	chromatin interactions
ENSG00000124588	chromatin interactions
ENSG00000168071	chromatin interactions
ENSG00000256116	chromatin interactions
ENSG00000173511	chromatin interactions
ENSG00000162302	chromatin interactions
ENSG00000168439	chromatin interactions
ENSG00000221273	chromatin interactions
ENSG00000173486	chromatin interactions
ENSG00000181908	chromatin interactions
ENSG00000219435	chromatin interactions
ENSG00000149781	chromatin interactions
ENSG00000133315	chromatin interactions
ENSG00000173457	chromatin interactions
ENSG00000173264	chromatin interactions
ENSG00000126432	chromatin interactions
ENSG00000256940	chromatin interactions
ENSG00000173153	chromatin interactions

Extended variants
information (count: 48 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556838773	chr11:64110063-64110064	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
2	rs576572742	chr11:64110069-64110070	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
3	rs545538481	chr11:64110077-64110078	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
4	rs559011810	chr11:64110093-64110094	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
5	rs572682028	chr11:64110094-64110095	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
6	rs540695935	chr11:64110164-64110165	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
7	rs34678200	chr11:64110173-64110174	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
8	rs560540780	chr11:64110243-64110244	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
9	rs200244966	chr11:64110345-64110346	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
10	rs201381960	chr11:64110346-64110347	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
11	rs199606445	chr11:64110348-64110349	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
12	rs543122145	chr11:64110349-64110350	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
13	rs562996940	chr11:64110351-64110352	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
14	rs532228213	chr11:64110352-64110353	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
15	rs552313782	chr11:64110354-64110355	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
16	rs528367654	chr11:64110361-64110362	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
17	rs547858488	chr11:64110421-64110422	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
18	rs11601860	chr11:64110422-64110423	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs151020179	chr11:64110440-64110441	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
20	rs373637964	chr11:64110451-64110452	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
21	rs368639585	chr11:64110484-64110485	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
22	rs570108090	chr11:64110497-64110498	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
23	rs538877550	chr11:64110540-64110541	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
24	rs559083938	chr11:64110541-64110542	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
25	rs572695383	chr11:64110582-64110583	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
26	rs534974036	chr11:64110598-64110599	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
27	rs78042412	chr11:64110614-64110615	Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
28	rs77179073	chr11:64110626-64110627	Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
29	rs542984933	chr11:64110630-64110631	Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
30	rs563252980	chr11:64110636-64110637	Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
31	rs201489781	chr11:64110638-64110639	Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
32	rs574835	chr11:64110668-64110669	Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs479552	chr11:64110683-64110684	Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs139453508	chr11:64110689-64110690	Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
35	rs371409114	chr11:64110768-64110769	Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
36	rs548514744	chr11:64110785-64110786	Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
37	rs561918725	chr11:64110796-64110797	Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
38	rs35692796	chr11:64110805-64110806	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs368605372	chr11:64110833-64110834	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
40	rs372368269	chr11:64110834-64110835	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
41	rs550167204	chr11:64110837-64110838	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
42	rs200238832	chr11:64110838-64110839	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
43	rs539116396	chr11:64110886-64110887	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
44	rs552535568	chr11:64110892-64110893	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
45	rs143193161	chr11:64110929-64110930	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
46	rs12808002	chr11:64110932-64110933	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs61354326	chr11:64110955-64110956	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
48	rs141405442	chr11:64110994-64110995	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	17 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:247 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64106800-64110400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr11:64108000-64110400	Active TSS	H9 Cell Line	embryonic stem cell
3	chr11:64108000-64110800	Enhancers	Lung	lung
4	chr11:64108200-64110200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr11:64108200-64111200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:64108200-64111800	Enhancers	Placenta	Placenta
7	chr11:64108400-64110400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr11:64108600-64110200	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr11:64108600-64110800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr11:64108600-64110800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr11:64108600-64111000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr11:64108800-64110200	Enhancers	Primary B cells from cord blood	blood
13	chr11:64108800-64110200	Flanking Active TSS	Colonic Mucosa	Colon
14	chr11:64108800-64111000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr11:64108800-64111600	Genic enhancers	Primary B cells from peripheral blood	blood
16	chr11:64108800-64111600	Genic enhancers	Spleen	Spleen
17	chr11:64109000-64110800	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr11:64109000-64110800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:64109400-64110200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr11:64109400-64110200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr11:64109400-64110200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr11:64109400-64110200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr11:64109400-64110200	Enhancers	Fetal Heart	heart
24	chr11:64109400-64110200	Flanking Active TSS	Stomach Smooth Muscle	stomach
25	chr11:64109600-64110200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr11:64109600-64110200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr11:64109600-64110200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:64109600-64110200	Active TSS	Brain Cingulate Gyrus	brain
29	chr11:64109600-64110200	Flanking Active TSS	Esophagus	oesophagus
30	chr11:64109600-64110200	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr11:64109600-64110200	Flanking Active TSS	HMEC	breast
32	chr11:64109600-64110200	Enhancers	NH-A	brain
33	chr11:64109600-64110400	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr11:64109600-64110400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr11:64109600-64110400	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr11:64109600-64110400	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr11:64109600-64110800	Bivalent Enhancer	Fetal Brain Male	brain
38	chr11:64109600-64111000	Enhancers	Liver	Liver
39	chr11:64109600-64111400	Enhancers	Gastric	stomach
40	chr11:64109800-64110200	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
41	chr11:64109800-64110200	Active TSS	Aorta	Aorta
42	chr11:64109800-64110200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr11:64109800-64110200	Flanking Active TSS	Fetal Muscle Leg	muscle
44	chr11:64109800-64110200	Flanking Active TSS	Pancreas	Pancrea
45	chr11:64109800-64110200	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
46	chr11:64109800-64110200	Active TSS	Small Intestine	intestine
47	chr11:64109800-64110400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr11:64109800-64110400	Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr11:64109800-64110400	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr11:64109800-64110400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links