Variant report

Variant	nsv897778
Chromosome Location	chr11:66044882-66066349
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1850)
CpG islands
(count:3055)
Chromatin interactive
region (count:59)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1850 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:66056286-66057054	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:66049989-66050204	HepG2	liver:	n/a	n/a
3	ARID3A	chr11:66047671-66047721	HepG2	liver:	n/a	n/a
4	ARID3A	chr11:66056521-66056775	K562	blood:	n/a	n/a
5	ARID3A	chr11:66049946-66050211	K562	blood:	n/a	n/a
6	ATF1	chr11:66056424-66057308	K562	blood:	n/a	n/a
7	ATF2	chr11:66056229-66057350	GM12878	blood:	n/a	n/a
8	ATF2	chr11:66049849-66050377	GM12878	blood:	n/a	n/a
9	ATF2	chr11:66049909-66050365	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr11:66056258-66057329	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr11:66059433-66059860	H1-hESC	embryonic stem cell:	n/a	chr11:66059805-66059819 chr11:66059807-66059818
12	ATF2	chr11:66049900-66050284	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr11:66056321-66057167	GM12878	blood:	n/a	n/a
14	ATF2	chr11:66056355-66057394	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF3	chr11:66049845-66050348	A549	lung:	n/a	n/a
16	ATF3	chr11:66049913-66050320	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF3	chr11:66049927-66050308	H1-hESC	embryonic stem cell:	n/a	n/a
18	ATF3	chr11:66049867-66050330	A549	lung:	n/a	n/a
19	ATF3	chr11:66049875-66050271	K562	blood:	n/a	n/a
20	ATF3	chr11:66049943-66050219	GM12878	blood:	n/a	n/a
21	ATF3	chr11:66056451-66056757	K562	blood:	n/a	chr11:66056608-66056619 chr11:66056607-66056621
22	ATF3	chr11:66049902-66050307	GM12878	blood:	n/a	n/a
23	ATF3	chr11:66049879-66050175	K562	blood:	n/a	n/a
24	BACH1	chr11:66056204-66057653	H1-hESC	embryonic stem cell:	n/a	chr11:66057485-66057499
25	BACH1	chr11:66056342-66056567	K562	blood:	n/a	n/a
26	BCL3	chr11:66056325-66057498	A549	lung:	n/a	chr11:66056840-66056853
27	BCL3	chr11:66056405-66057087	A549	lung:	n/a	chr11:66056840-66056853
28	BCL3	chr11:66060334-66060683	A549	lung:	n/a	n/a
29	BCL3	chr11:66049803-66050440	A549	lung:	n/a	n/a
30	BCL3	chr11:66045213-66045834	GM12878	blood:	n/a	n/a
31	BCL3	chr11:66049854-66050316	GM12878	blood:	n/a	n/a
32	BCL3	chr11:66045256-66045588	GM12878	blood:	n/a	n/a
33	BCL3	chr11:66062039-66062306	GM12878	blood:	n/a	n/a
34	BCL3	chr11:66049879-66050365	A549	lung:	n/a	n/a
35	BCLAF1	chr11:66045262-66045585	GM12878	blood:	n/a	n/a
36	BCLAF1	chr11:66049891-66050397	GM12878	blood:	n/a	n/a
37	BHLHE40	chr11:66060240-66060618	K562	blood:	n/a	n/a
38	BHLHE40	chr11:66056265-66057260	GM12878	blood:	n/a	n/a
39	BHLHE40	chr11:66060189-66060701	HepG2	liver:	n/a	n/a
40	BHLHE40	chr11:66056066-66056174	K562	blood:	n/a	n/a
41	BHLHE40	chr11:66060249-66060579	GM12878	blood:	n/a	n/a
42	BHLHE40	chr11:66049925-66050279	K562	blood:	n/a	n/a
43	BHLHE40	chr11:66049934-66050289	HepG2	liver:	n/a	n/a
44	BHLHE40	chr11:66056407-66057240	K562	blood:	n/a	n/a
45	BHLHE40	chr11:66049904-66050304	GM12878	blood:	n/a	n/a
46	BRCA1	chr11:66056446-66057183	Hela-S3	cervix:	n/a	n/a
47	BRCA1	chr11:66049951-66050309	H1-hESC	embryonic stem cell:	n/a	n/a
48	BRCA1	chr11:66049946-66050259	Hela-S3	cervix:	n/a	n/a
49	BRCA1	chr11:66056613-66056686	HepG2	liver:	n/a	n/a
50	BRCA1	chr11:66049993-66050332	HepG2	liver:	n/a	n/a

(count:3055 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:66045486-66045536	HepG2	liver:	n/a
2	chr11:66046770-66046820	Jurkat	blood:	n/a
3	chr11:66056587-66056637	HRE	kidney:	n/a
4	chr11:66056787-66056837	T-47D	breast:	n/a
5	chr11:66051638-66051688	HCPEpiC	choroid plexus:	n/a
6	chr11:66045486-66045536	HepG2	liver:	n/a
7	chr11:66046770-66046820	Jurkat	blood:	n/a
8	chr11:66056587-66056637	HRE	kidney:	n/a
9	chr11:66056787-66056837	T-47D	breast:	n/a
10	chr11:66051638-66051688	HCPEpiC	choroid plexus:	n/a
11	chr11:66059156-66059206	NHDF-neo	bronchial:	n/a
12	chr11:66056771-66056821	Jurkat	blood:	n/a
13	chr11:66056572-66056622	NHDF-neo	bronchial:	n/a
14	chr11:66056787-66056837	K562	blood:	n/a
15	chr11:66062536-66062586	SK-N-MC	brain:	n/a
16	chr11:66045500-66045550	AG04450	lung:	fetal
17	chr11:66055236-66055286	MCF10A-Er-Src	breast:	n/a
18	chr11:66049855-66049905	NB4	blood:	n/a
19	chr11:66045512-66045562	HL-60	blood:	n/a
20	chr11:66059129-66059179	ProgFib	skin:	n/a
21	chr11:66064082-66064132	HEK293	kidney:	embryo
22	chr11:66055170-66055220	HCPEpiC	choroid plexus:	n/a
23	chr11:66056828-66056878	AG04449	skin:	fetal
24	chr11:66056587-66056637	Caco-2	colon:	n/a
25	chr11:66062536-66062586	K562	blood:	n/a
26	chr11:66064082-66064132	Hepatocyte	liver:	n/a
27	chr11:66046770-66046820	CMK	blood:	n/a
28	chr11:66062536-66062586	Hepatocyte	liver:	n/a
29	chr11:66051638-66051688	HRE	kidney:	n/a
30	chr11:66045564-66045614	BE2_C	brain:	n/a
31	chr11:66048759-66048809	MCF10A-Er-Src	breast:	n/a
32	chr11:66045500-66045550	BJ	skin:	n/a
33	chr11:66045506-66045556	T-47D	breast:	n/a
34	chr11:66059064-66059114	MCF10A-Er-Src	breast:	n/a
35	chr11:66045564-66045614	NB4	blood:	n/a
36	chr11:66049756-66049806	HPAEpiC	pulmonary alveolar:	n/a
37	chr11:66063091-66063141	SKMC	muscle:	n/a
38	chr11:66062710-66062760	ECC-1	luminal epithelium:	n/a
39	chr11:66045564-66045614	HCF	heart:	n/a
40	chr11:66050123-66050173	HIPEpiC	eye:	n/a
41	chr11:66057277-66057327	HCT-116	colon:	n/a
42	chr11:66045718-66045768	LNCaP	prostate:	n/a
43	chr11:66045718-66045768	BE2_C	brain:	n/a
44	chr11:66045506-66045556	SK-N-MC	brain:	n/a
45	chr11:66050123-66050173	HL-60	blood:	n/a
46	chr11:66045494-66045544	Hela-S3	cervix:	n/a
47	chr11:66056751-66056801	HUVEC	blood vessel:	n/a
48	chr11:66045500-66045550	LNCaP	prostate:	n/a
49	chr11:66046083-66046133	GM12891	blood:	n/a
50	chr11:66045718-66045768	ovcar-3	ovarian:	n/a

(count:59 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:66025441..66025972-chr11:66049706..66050228,2	MCF-7	breast:
2	chr11:66054900..66056693-chr11:66099016..66101180,2	K562	blood:
3	chr11:65265719..65267339-chr11:66055130..66057723,2	K562	blood:
4	chr11:66056386..66058686-chr11:66082623..66084625,3	MCF-7	breast:
5	chr11:66056148..66056859-chr7:105172413..105173177,2	Hela-S3	cervix:
6	chr11:66054488..66057665-chr11:66080176..66082833,4	K562	blood:
7	chr11:66048311..66050019-chr11:66510408..66513165,2	K562	blood:
8	chr11:65818576..65820605-chr11:66044652..66046444,2	MCF-7	breast:
9	chr11:66054404..66057808-chr11:66078165..66081775,4	MCF-7	breast:
10	chr11:65987811..65990997-chr11:66051307..66054931,3	MCF-7	breast:
11	chr11:66028824..66031136-chr11:66055300..66057117,2	MCF-7	breast:
12	chr11:66054499..66057435-chr11:66115136..66117035,2	MCF-7	breast:
13	chr11:66064946..66066447-chr11:66077154..66079441,2	K562	blood:
14	chr11:66055270..66057597-chr11:66112530..66115409,2	K562	blood:
15	chr1:247495103..247495785-chr11:66056230..66056965,2	Hela-S3	cervix:
16	chr11:66062349..66065142-chr11:66111136..66113988,2	MCF-7	breast:
17	chr11:66023140..66025945-chr11:66052736..66056629,3	MCF-7	breast:
18	chr11:66023062..66027568-chr11:66043406..66047432,6	MCF-7	breast:
19	chr11:66054081..66055900-chr11:66092894..66095581,2	MCF-7	breast:
20	chr11:66053447..66056540-chr11:66100445..66105768,7	MCF-7	breast:
21	chr11:66043530..66045792-chr11:66110035..66112602,2	MCF-7	breast:
22	chr11:66055819..66057691-chr11:66103911..66105498,2	K562	blood:
23	chr11:66055492..66057185-chr11:66510556..66513409,3	K562	blood:
24	chr11:66054859..66059696-chr11:66135983..66141726,7	K562	blood:
25	chr11:66056831..66061115-chr11:66109718..66114909,6	MCF-7	breast:
26	chr11:66063247..66065157-chr11:66079220..66081935,2	MCF-7	breast:
27	chr11:66054162..66056937-chr11:66109546..66111530,2	K562	blood:
28	chr11:66055291..66058281-chr11:66079576..66082924,5	MCF-7	breast:
29	chr11:66062414..66065711-chr11:66071500..66075146,4	K562	blood:
30	chr11:66047571..66049763-chr11:66079162..66081273,2	K562	blood:
31	chr11:66025864..66027446-chr11:66054760..66056847,2	MCF-7	breast:
32	chr11:66049515..66053153-chr11:66136549..66141980,4	K562	blood:
33	chr11:66029401..66032337-chr11:66048852..66051047,2	MCF-7	breast:
34	chr11:66055638..66057992-chr11:66113909..66116651,3	K562	blood:
35	chr11:66054894..66059478-chr11:66060686..66065105,11	MCF-7	breast:
36	chr11:65625599..65627439-chr11:66053239..66055711,2	K562	blood:
37	chr11:66052361..66057023-chr11:66137906..66140994,4	MCF-7	breast:
38	chr11:66056443..66058001-chr11:66233294..66235684,2	MCF-7	breast:
39	chr11:66054433..66056920-chr11:66384363..66386136,2	K562	blood:
40	chr11:65837641..65839546-chr11:66050688..66053288,2	K562	blood:
41	chr11:66049888..66052811-chr11:66137402..66139383,3	MCF-7	breast:
42	chr11:66006716..66009009-chr11:66056097..66058334,2	MCF-7	breast:
43	chr11:66056885..66058669-chr11:66106452..66107991,2	K562	blood:
44	chr11:66053947..66059144-chr11:66077550..66083439,18	K562	blood:
45	chr11:66054909..66058395-chr11:66084021..66087571,3	K562	blood:
46	chr11:66047213..66049788-chr11:66097470..66100241,3	K562	blood:
47	chr11:66063271..66066176-chr11:66078750..66080840,2	K562	blood:
48	chr11:65624126..65626253-chr11:66048758..66051466,2	K562	blood:
49	chr11:66034858..66038328-chr11:66053749..66060447,9	MCF-7	breast:
50	chr11:65999678..66002038-chr11:66045531..66047368,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-YIF1A-1	chr11:66044640-66044963	ENSG00000254452.1
2	lnc-YIF1A-1	chr11:66044771-66044958	ENSG00000254452.1

No data

Variant related genes	Relation type
TMEM151A	TF binding region
ENSG00000254452	TF binding region
ENSG00000245156	TF binding region
CNIH2	TF binding region
YIF1A	TF binding region
TMEM151A	CpG island
ENSG00000254452	CpG island
ENSG00000245156	CpG island
CNIH2	CpG island
YIF1A	CpG island
ENSG00000185324	chromatin interactions
ENSG00000087365	chromatin interactions
ENSG00000260259	chromatin interactions
ENSG00000172732	chromatin interactions
ENSG00000179292	chromatin interactions
ENSG00000174903	chromatin interactions
ENSG00000100890	chromatin interactions
ENSG00000174547	chromatin interactions
ENSG00000254458	chromatin interactions
ENSG00000135249	chromatin interactions
ENSG00000254762	chromatin interactions
ENSG00000092020	chromatin interactions
ENSG00000111057	chromatin interactions
ENSG00000174744	chromatin interactions
ENSG00000175115	chromatin interactions
ENSG00000162714	chromatin interactions
ENSG00000254461	chromatin interactions
ENSG00000255468	chromatin interactions
ENSG00000173715	chromatin interactions
ENSG00000251562	chromatin interactions
ENSG00000174851	chromatin interactions
ENSG00000174791	chromatin interactions
ENSG00000174996	chromatin interactions
ENSG00000270117	chromatin interactions
ENSG00000174684	chromatin interactions
ENSG00000174669	chromatin interactions
ENSG00000170421	chromatin interactions
ENSG00000239306	chromatin interactions
ENSG00000172757	chromatin interactions
ENSG00000174807	chromatin interactions
ENSG00000254756	chromatin interactions
ENSG00000174516	chromatin interactions

Extended variants
information (count: 851 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:851 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1043303	chr11:66044882-66044883	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
2	rs35154090	chr11:66044936-66044937	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
3	rs553649512	chr11:66044990-66044991	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs562540680	chr11:66044998-66044999	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs35596993	chr11:66045001-66045002	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs556440991	chr11:66045011-66045012	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs573322825	chr11:66045031-66045032	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs566145807	chr11:66045065-66045066	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs534854980	chr11:66045125-66045126	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs554940038	chr11:66045167-66045168	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs574750722	chr11:66045180-66045181	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs536900434	chr11:66045204-66045205	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs79270560	chr11:66045231-66045232	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs576761547	chr11:66045266-66045267	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs147358307	chr11:66045276-66045277	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs545570209	chr11:66045309-66045310	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs79770412	chr11:66045344-66045345	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs572883880	chr11:66045356-66045357	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs147811181	chr11:66045379-66045380	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs373729588	chr11:66045383-66045384	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs376726519	chr11:66045405-66045406	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs530442617	chr11:66045431-66045432	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs369828275	chr11:66045434-66045435	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs550463994	chr11:66045471-66045472	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs563959747	chr11:66045489-66045490	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs532885254	chr11:66045504-66045505	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs552803302	chr11:66045512-66045513	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs566184178	chr11:66045519-66045520	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs535078670	chr11:66045545-66045546	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs117226872	chr11:66045546-66045547	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs530075010	chr11:66045564-66045565	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs374672993	chr11:66045600-66045601	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs568414993	chr11:66045744-66045745	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs537032212	chr11:66045785-66045786	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs556964352	chr11:66045856-66045857	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs372461127	chr11:66045905-66045906	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs376740698	chr11:66045919-66045920	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs576722156	chr11:66045920-66045921	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs55686004	chr11:66045939-66045940	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs146937207	chr11:66045948-66045949	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs553089941	chr11:66045951-66045952	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs137871720	chr11:66045957-66045958	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs182162464	chr11:66045979-66045980	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs143558098	chr11:66045990-66045991	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs201305151	chr11:66046017-66046018	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs369011822	chr11:66046102-66046103	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs561642880	chr11:66046121-66046122	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs555358444	chr11:66046143-66046144	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs575335166	chr11:66046255-66046256	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs544208356	chr11:66046265-66046266	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
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	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Pancreatic cancer	17952125	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1989 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66037600-66045000	Genic enhancers	Fetal Thymus	thymus
2	chr11:66038200-66045000	Weak transcription	Right Atrium	heart
3	chr11:66038400-66045000	Weak transcription	Fetal Heart	heart
4	chr11:66038400-66045000	Strong transcription	Gastric	stomach
5	chr11:66038400-66045200	Weak transcription	Psoas Muscle	Psoas
6	chr11:66039600-66045000	Strong transcription	Spleen	Spleen
7	chr11:66040000-66045000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:66040200-66045200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr11:66040200-66045200	Genic enhancers	Fetal Muscle Leg	muscle
10	chr11:66040800-66045000	Weak transcription	Stomach Mucosa	stomach
11	chr11:66040800-66049600	Weak transcription	NHDF-Ad	bronchial
12	chr11:66041000-66045000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr11:66041800-66045400	Weak transcription	HUVEC	blood vessel
14	chr11:66042000-66045200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:66042000-66055600	Weak transcription	Fetal Kidney	kidney
16	chr11:66042400-66045000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:66042400-66045000	Weak transcription	Small Intestine	intestine
18	chr11:66042600-66045000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr11:66042600-66048400	Weak transcription	A549	lung
20	chr11:66042800-66045200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:66042800-66050200	Weak transcription	K562	blood
22	chr11:66043000-66045000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr11:66043000-66045000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr11:66043000-66045000	Genic enhancers	Thymus	Thymus
25	chr11:66043000-66050200	Weak transcription	Hela-S3	cervix
26	chr11:66043200-66045000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr11:66043200-66045000	Weak transcription	NH-A	brain
28	chr11:66043400-66045400	Weak transcription	HSMM	muscle
29	chr11:66043600-66045000	Weak transcription	HepG2	liver
30	chr11:66043600-66045000	Weak transcription	Osteobl	bone
31	chr11:66043800-66045000	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr11:66043800-66045000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr11:66043800-66045000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr11:66043800-66045200	Weak transcription	HMEC	breast
35	chr11:66044000-66045000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr11:66044000-66045000	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr11:66044000-66045000	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr11:66044000-66045000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr11:66044000-66045000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr11:66044000-66045000	Weak transcription	Primary T cells from cord blood	blood
41	chr11:66044000-66045000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:66044000-66045000	Weak transcription	Brain Angular Gyrus	brain
43	chr11:66044000-66045000	Weak transcription	Brain Anterior Caudate	brain
44	chr11:66044000-66045000	Weak transcription	Brain Substantia Nigra	brain
45	chr11:66044000-66045000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr11:66044000-66045000	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr11:66044000-66045200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:66044000-66045200	Weak transcription	Dnd41	blood
49	chr11:66044000-66046200	Weak transcription	NHEK	skin
50	chr11:66044000-66047600	Weak transcription	HSMMtube	muscle

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