Variant report

Variant	nsv1042182
Chromosome Location	chr11:72294042-72348491
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1567)
CpG islands
(count:1527)
Chromatin interactive
region (count:98)
LncRNA
region (count:2)
Mature miRNA
region (count: 2)
miRNA target
sites (count:0)

(count:1567 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:72343646-72343697	K562	blood:	n/a	n/a
2	ATF1	chr11:72343454-72343810	K562	blood:	n/a	n/a
3	ATF1	chr11:72337570-72337657	K562	blood:	n/a	n/a
4	ATF2	chr11:72300762-72301150	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr11:72295311-72295780	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr11:72315611-72315760	K562	blood:	n/a	n/a
7	BCL3	chr11:72335513-72336001	GM12878	blood:	n/a	n/a
8	BCL3	chr11:72335279-72336043	GM12878	blood:	n/a	n/a
9	BHLHE40	chr11:72325112-72325378	K562	blood:	n/a	n/a
10	BHLHE40	chr11:72337488-72337642	K562	blood:	n/a	n/a
11	BHLHE40	chr11:72336842-72336909	K562	blood:	n/a	n/a
12	BHLHE40	chr11:72341243-72341485	K562	blood:	n/a	chr11:72341331-72341352 chr11:72341337-72341346 chr11:72341337-72341346 chr11:72341336-72341345 chr11:72341335-72341348
13	BHLHE40	chr11:72343412-72343769	K562	blood:	n/a	n/a
14	BHLHE40	chr11:72310045-72310150	HepG2	liver:	n/a	n/a
15	BHLHE40	chr11:72309596-72309848	K562	blood:	n/a	n/a
16	BHLHE40	chr11:72335523-72335833	K562	blood:	n/a	n/a
17	BRCA1	chr11:72296781-72297014	HepG2	liver:	n/a	n/a
18	BRCA1	chr11:72301932-72301968	H1-hESC	embryonic stem cell:	n/a	n/a
19	BRCA1	chr11:72296650-72297056	Hela-S3	cervix:	n/a	n/a
20	CBX3	chr11:72343218-72343905	K562	blood:	n/a	n/a
21	CCNT2	chr11:72336862-72337135	K562	blood:	n/a	chr11:72336996-72337005
22	CCNT2	chr11:72343476-72343734	K562	blood:	n/a	n/a
23	CCNT2	chr11:72297654-72297784	K562	blood:	n/a	chr11:72297713-72297733
24	CCNT2	chr11:72301344-72301706	K562	blood:	n/a	n/a
25	CCNT2	chr11:72300999-72301141	K562	blood:	n/a	n/a
26	CEBPB	chr11:72323400-72323709	H1-hESC	embryonic stem cell:	n/a	n/a
27	CEBPB	chr11:72346666-72346832	K562	blood:	n/a	n/a
28	CEBPB	chr11:72346716-72346886	HepG2	liver:	n/a	n/a
29	CEBPB	chr11:72346617-72346917	K562	blood:	n/a	n/a
30	CEBPB	chr11:72336888-72337062	HepG2	liver:	n/a	n/a
31	CEBPB	chr11:72348264-72348515	H1-hESC	embryonic stem cell:	n/a	n/a
32	CEBPB	chr11:72348213-72348559	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr11:72346758-72346831	IMR90	lung:	n/a	n/a
34	CEBPB	chr11:72323419-72323652	K562	blood:	n/a	n/a
35	CEBPB	chr11:72323388-72323722	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr11:72323410-72323721	K562	blood:	n/a	n/a
37	CEBPB	chr11:72323405-72323699	A549	lung:	n/a	n/a
38	CEBPB	chr11:72310487-72310614	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr11:72343602-72343609	K562	blood:	n/a	n/a
40	CEBPB	chr11:72300834-72300986	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr11:72296750-72297094	Hela-S3	cervix:	n/a	n/a
42	CEBPB	chr11:72302790-72303486	Hela-S3	cervix:	n/a	n/a
43	CEBPB	chr11:72323383-72323741	HepG2	liver:	n/a	n/a
44	CEBPB	chr11:72323419-72323727	IMR90	lung:	n/a	n/a
45	CHD1	chr11:72306114-72306628	H1-hESC	embryonic stem cell:	n/a	chr11:72306467-72306477
46	CHD2	chr11:72300935-72301025	K562	blood:	n/a	n/a
47	CHD2	chr11:72295648-72295784	H1-hESC	embryonic stem cell:	n/a	n/a
48	CHD2	chr11:72348199-72348421	Hela-S3	cervix:	n/a	n/a
49	CHD2	chr11:72306420-72306534	H1-hESC	embryonic stem cell:	n/a	chr11:72306467-72306477
50	CHD2	chr11:72325504-72325698	Hela-S3	cervix:	n/a	n/a

(count:1527 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:72312062-72312112	NHDF-neo	bronchial:	n/a
2	chr11:72312062-72312112	IMR90	lung:	fetal
3	chr11:72312062-72312112	NHDF-neo	bronchial:	n/a
4	chr11:72312062-72312112	IMR90	lung:	fetal
5	chr11:72305346-72305396	GM12891	blood:	n/a
6	chr11:72305989-72306039	U87	brain:	n/a
7	chr11:72295425-72295475	NT2-D1	testis:	n/a
8	chr11:72298299-72298349	HCPEpiC	choroid plexus:	n/a
9	chr11:72326830-72326880	HEEpiC	esophagus:	n/a
10	chr11:72300891-72300941	RPTEC	kidney:	n/a
11	chr11:72295535-72295585	PFSK-1	brain:	n/a
12	chr11:72305989-72306039	Hepatocyte	liver:	n/a
13	chr11:72297851-72297901	SK-N-SH_RA	brain:	n/a
14	chr11:72301306-72301356	GM06990	blood:	n/a
15	chr11:72327807-72327857	PFSK-1	brain:	n/a
16	chr11:72343473-72343523	HNPCEpiC	eye:	n/a
17	chr11:72326842-72326892	NHBE	bronchial:	n/a
18	chr11:72343473-72343523	U87	brain:	n/a
19	chr11:72343473-72343523	GM19239	blood:	n/a
20	chr11:72297851-72297901	Hela-S3	cervix:	n/a
21	chr11:72326830-72326880	PANC-1	pancreas:	n/a
22	chr11:72312062-72312112	SK-N-SH_RA	brain:	n/a
23	chr11:72327807-72327857	HRE	kidney:	n/a
24	chr11:72326138-72326188	BJ	skin:	n/a
25	chr11:72305346-72305396	HIPEpiC	eye:	n/a
26	chr11:72295716-72295766	HMEC	breast:	n/a
27	chr11:72327160-72327210	AoSMC	blood vessel:	n/a
28	chr11:72301924-72301974	HL-60	blood:	n/a
29	chr11:72295535-72295585	HRE	kidney:	n/a
30	chr11:72301235-72301285	HUVEC	blood vessel:	n/a
31	chr11:72301235-72301285	HRCEpiC	kidney:	n/a
32	chr11:72301924-72301974	T-47D	breast:	n/a
33	chr11:72301235-72301285	PrEC	prostate:	n/a
34	chr11:72327807-72327857	Hepatocyte	liver:	n/a
35	chr11:72327807-72327857	LNCaP	prostate:	n/a
36	chr11:72300891-72300941	AG10803	skin:	n/a
37	chr11:72301724-72301774	RPTEC	kidney:	n/a
38	chr11:72312062-72312112	ProgFib	skin:	n/a
39	chr11:72301235-72301285	SK-N-SH	brain:	n/a
40	chr11:72347339-72347389	HEK293	kidney:	embryo
41	chr11:72327160-72327210	HCPEpiC	choroid plexus:	n/a
42	chr11:72295425-72295475	PANC-1	pancreas:	n/a
43	chr11:72295716-72295766	HCM	heart:	n/a
44	chr11:72296138-72296188	AG10803	skin:	n/a
45	chr11:72326156-72326206	AG04450	lung:	fetal
46	chr11:72295425-72295475	SK-N-MC	brain:	n/a
47	chr11:72326842-72326892	HL-60	blood:	n/a
48	chr11:72326842-72326892	GM06990	blood:	n/a
49	chr11:72300891-72300941	MCF10A-Er-Src	breast:	n/a
50	chr11:72301558-72301608	NH-A	brain:	n/a

(count:98 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:72313216..72314795-chr11:72323736..72325517,2	K562	blood:
2	chr11:72288586..72291436-chr11:72293581..72295884,2	K562	blood:
3	chr11:72321045..72323854-chr11:72340699..72343138,2	K562	blood:
4	chr11:72309161..72310639-chr11:72394269..72395813,13	MCF-7	breast:
5	chr11:72313089..72314978-chr11:72334364..72335937,2	K562	blood:
6	chr11:72316726..72319178-chr11:72323210..72325569,2	K562	blood:
7	chr11:72333492..72335782-chr11:72342126..72344876,2	K562	blood:
8	chr11:72321045..72323854-chr11:72340699..72343138,2	K562	blood:
9	chr11:72309197..72311837-chr11:72341889..72344712,2	K562	blood:
10	chr11:72308196..72310111-chr11:72350959..72352581,2	MCF-7	breast:
11	chr11:72309579..72311274-chr11:72353556..72354810,14	MCF-7	breast:
12	chr11:72193243..72193909-chr11:72319827..72320926,3	K562	blood:
13	chr11:72296845..72297348-chr11:72435939..72436594,2	MCF-7	breast:
14	chr11:72293642..72296987-chr11:72305169..72308806,3	K562	blood:
15	chr11:72300430..72301672-chr11:72353759..72354743,12	MCF-7	breast:
16	chr11:72313089..72314978-chr11:72334364..72335937,2	K562	blood:
17	chr11:72315461..72317278-chr11:72318771..72321876,3	K562	blood:
18	chr11:72325568..72327953-chr11:72330233..72332258,3	K562	blood:
19	chr11:72296502..72297376-chr11:72395958..72396520,2	MCF-7	breast:
20	chr11:72296372..72297374-chr11:72394518..72396001,14	MCF-7	breast:
21	chr11:72343339..72345279-chr11:72353249..72356170,2	K562	blood:
22	chr11:72317260..72319196-chr11:72329466..72332421,2	MCF-7	breast:
23	chr11:71930243..71933219-chr11:72343934..72345638,2	K562	blood:
24	chr11:72310660..72312266-chr11:72342413..72344790,2	MCF-7	breast:
25	chr11:72310603..72311371-chr11:72394905..72395850,2	MCF-7	breast:
26	chr11:72340095..72342278-chr11:72348258..72351014,2	MCF-7	breast:
27	chr11:72296480..72297346-chr11:72353767..72354676,6	MCF-7	breast:
28	chr11:72182308..72182988-chr11:72320289..72320813,2	MCF-7	breast:
29	chr11:72329455..72332319-chr11:72346728..72350252,3	MCF-7	breast:
30	chr11:72333492..72335782-chr11:72342126..72344876,2	K562	blood:
31	chr11:72310303..72312102-chr11:72363033..72365890,2	MCF-7	breast:
32	chr11:72338376..72339958-chr11:72347160..72349591,2	K562	blood:
33	chr11:72311450..72313060-chr11:72334269..72335781,2	K562	blood:
34	chr11:72332869..72335160-chr11:72338112..72340780,2	K562	blood:
35	chr11:72309197..72311837-chr11:72341889..72344712,2	K562	blood:
36	chr11:72341497..72343932-chr11:72350783..72352444,2	K562	blood:
37	chr11:72309624..72310516-chr11:72353748..72354671,8	MCF-7	breast:
38	chr11:72301230..72305336-chr11:72305460..72307843,3	K562	blood:
39	chr11:72301230..72305336-chr11:72305460..72307843,3	K562	blood:
40	chr11:72301070..72303090-chr11:72304662..72306516,2	K562	blood:
41	chr11:72314859..72319000-chr11:72319326..72322445,4	K562	blood:
42	chr11:72334834..72339078-chr11:72340923..72346253,6	K562	blood:
43	chr11:72317260..72319196-chr11:72329466..72332421,2	MCF-7	breast:
44	chr11:72296452..72297372-chr11:72394539..72395851,6	K562	blood:
45	chr11:72339617..72343114-chr11:72344003..72346053,4	K562	blood:
46	chr11:72325202..72330805-chr11:72334238..72338443,6	K562	blood:
47	chr11:72309680..72310674-chr11:72324664..72325164,2	MCF-7	breast:
48	chr11:72339617..72343114-chr11:72344003..72346053,4	K562	blood:
49	chr11:72324405..72326702-chr11:72335643..72338443,2	K562	blood:
50	chr11:72334834..72339078-chr11:72340923..72346253,6	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARAP1-2	chr11:72307637-72307670	NONHSAT022779
2	lnc-ARAP1-2	chr11:72301977-72302400	NONHSAT022779

miRNA name	Chromosome Location	mirBase accession
hsa-miR-139-3p	chr11:72326110-72326132	MIMAT0004552
hsa-miR-139-5p	chr11:72326146-72326168	MIMAT0000250

No data

Variant related genes	Relation type
PDE2A	TF binding region
RNU7-105P	TF binding region
ENSG00000256633	TF binding region
MIR139	TF binding region
PDE2A	CpG island
RNU7-105P	CpG island
ENSG00000256633	CpG island
MIR139	CpG island
ENSG00000251919	chromatin interactions
ENSG00000256633	chromatin interactions
ENSG00000255808	chromatin interactions
ENSG00000186642	chromatin interactions
ENSG00000272036	chromatin interactions
ENSG00000256007	chromatin interactions
RPS26	Mature miRNA region
MTDH	Mature miRNA region
FOS	Mature miRNA region
TGS1	Mature miRNA region
IGF1R	Mature miRNA region

Extended variants
information (count: 2227 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:2227 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1467135	chr11:72294042-72294043	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs528298122	chr11:72294043-72294044	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs35642115	chr11:72294059-72294060	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs546329864	chr11:72294086-72294087	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs565011592	chr11:72294146-72294147	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs531974162	chr11:72294178-72294179	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs538486806	chr11:72294185-72294186	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs550627821	chr11:72294207-72294208	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs112003387	chr11:72294220-72294221	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs534145889	chr11:72294314-72294315	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs181867657	chr11:72294373-72294374	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs537789379	chr11:72294405-72294406	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs147046512	chr11:72294406-72294407	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs567821011	chr11:72294424-72294425	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs535225082	chr11:72294428-72294429	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs200842805	chr11:72294439-72294440	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs426907	chr11:72294440-72294441	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs538634295	chr11:72294444-72294445	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs374787686	chr11:72294450-72294451	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs575178200	chr11:72294457-72294458	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs138291495	chr11:72294533-72294534	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs367905432	chr11:72294551-72294552	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs371738411	chr11:72294610-72294611	Bivalent Enhancer Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs149331335	chr11:72294667-72294668	Bivalent Enhancer Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs186943122	chr11:72294678-72294679	Bivalent Enhancer Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs408269	chr11:72294714-72294715	Bivalent Enhancer Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs56267207	chr11:72294734-72294735	Bivalent Enhancer Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs397824352	chr11:72294738-72294739	Bivalent Enhancer Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs564811217	chr11:72294743-72294744	Bivalent Enhancer Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs532264311	chr11:72294755-72294756	Bivalent Enhancer Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs189323766	chr11:72294771-72294772	Bivalent Enhancer Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs562510255	chr11:72294783-72294784	Bivalent Enhancer Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs557106776	chr11:72294812-72294813	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs115476099	chr11:72294836-72294837	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs143594957	chr11:72294839-72294840	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs567972739	chr11:72294861-72294862	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs528643325	chr11:72294875-72294876	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs555915983	chr11:72294877-72294878	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs556115560	chr11:72294909-72294910	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs571646123	chr11:72294945-72294946	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs539163689	chr11:72294980-72294981	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs575185607	chr11:72295047-72295048	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs78960769	chr11:72295059-72295060	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs536266825	chr11:72295066-72295067	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs375823258	chr11:72295068-72295069	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs554406926	chr11:72295088-72295089	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs113730535	chr11:72295106-72295107	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs578071910	chr11:72295111-72295112	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs181741249	chr11:72295168-72295169	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs371400739	chr11:72295193-72295194	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chordoma	21602918	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	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
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
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Multiple myeloma	16616336	CNVD
Urothelial cell carcinoma	18451213	CNVD
Leukoplakia	24403051	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Lung cancer	19153074	CNVD
Acute myeloid leukemia	21251322	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1576 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72269600-72295200	Weak transcription	Right Atrium	heart
2	chr11:72282800-72295200	Weak transcription	Gastric	stomach
3	chr11:72285000-72296200	Weak transcription	Liver	Liver
4	chr11:72287400-72295200	Strong transcription	Brain Hippocampus Middle	brain
5	chr11:72287400-72296600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr11:72287600-72295000	Strong transcription	Adipose Nuclei	Adipose
7	chr11:72287600-72295000	Strong transcription	Right Ventricle	heart
8	chr11:72287800-72294200	Strong transcription	Fetal Muscle Trunk	muscle
9	chr11:72287800-72294800	Strong transcription	Fetal Brain Female	brain
10	chr11:72287800-72296400	Strong transcription	Stomach Smooth Muscle	stomach
11	chr11:72289400-72299800	Weak transcription	Lung	lung
12	chr11:72289800-72295600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr11:72290800-72294600	Strong transcription	Brain Anterior Caudate	brain
14	chr11:72291000-72294800	Strong transcription	Colon Smooth Muscle	Colon
15	chr11:72291000-72295400	Weak transcription	Esophagus	oesophagus
16	chr11:72291600-72295600	Strong transcription	Spleen	Spleen
17	chr11:72292000-72295200	Weak transcription	Primary B cells from peripheral blood	blood
18	chr11:72292000-72295800	Weak transcription	Primary B cells from cord blood	blood
19	chr11:72292000-72296000	Weak transcription	Hela-S3	cervix
20	chr11:72293000-72295800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr11:72293600-72294400	Weak transcription	HSMMtube	muscle
22	chr11:72293600-72295800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr11:72293600-72298200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr11:72293600-72300800	Weak transcription	Left Ventricle	heart
25	chr11:72293800-72296200	Weak transcription	Brain Angular Gyrus	brain
26	chr11:72294000-72295800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr11:72294400-72297200	Enhancers	Pancreas	Pancrea
28	chr11:72294600-72295000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:72294600-72300000	Weak transcription	Brain Anterior Caudate	brain
30	chr11:72294800-72296000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
31	chr11:72294800-72296000	Weak transcription	Colon Smooth Muscle	Colon
32	chr11:72295000-72295200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr11:72295000-72295200	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr11:72295000-72295200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr11:72295000-72295400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
36	chr11:72295000-72295400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr11:72295000-72295800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr11:72295000-72295800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr11:72295000-72295800	Weak transcription	Adipose Nuclei	Adipose
40	chr11:72295000-72296000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
41	chr11:72295000-72296200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
42	chr11:72295000-72296200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
43	chr11:72295000-72296200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
44	chr11:72295000-72297400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
45	chr11:72295000-72300800	Weak transcription	Right Ventricle	heart
46	chr11:72295200-72295400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:72295200-72295400	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr11:72295200-72295400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
49	chr11:72295200-72295400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr11:72295200-72295400	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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