Variant report

Variant	esv3324432
Chromosome Location	chr11:64489201-64492249
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr11:64490741-64491376	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr11:64490759-64491206	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCLAF1	chr11:64490887-64491303	GM12878	blood:	n/a	n/a
4	BHLHE40	chr11:64490970-64491570	GM12878	blood:	n/a	n/a
5	BRCA1	chr11:64490744-64491233	H1-hESC	embryonic stem cell:	n/a	n/a
6	BRCA1	chr11:64491059-64491155	Hela-S3	cervix:	n/a	n/a
7	BRCA1	chr11:64490887-64491192	GM12878	blood:	n/a	n/a
8	BRCA1	chr11:64491085-64491114	HepG2	liver:	n/a	n/a
9	CBX3	chr11:64490870-64491242	K562	blood:	n/a	n/a
10	CCNT2	chr11:64490765-64491152	K562	blood:	n/a	n/a
11	CEBPB	chr11:64491001-64491216	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr11:64490595-64490785	Hela-S3	cervix:	n/a	n/a
13	CHD1	chr11:64491034-64491207	H1-hESC	embryonic stem cell:	n/a	n/a
14	CHD2	chr11:64490568-64491598	GM12878	blood:	n/a	chr11:64490636-64490646 chr11:64490942-64490952 chr11:64490949-64490959 chr11:64490732-64490742
15	CHD2	chr11:64490569-64491247	K562	blood:	n/a	chr11:64490636-64490646 chr11:64490942-64490952 chr11:64490949-64490959 chr11:64490732-64490742
16	CHD2	chr11:64490556-64491247	Hela-S3	cervix:	n/a	chr11:64490636-64490646 chr11:64490942-64490952 chr11:64490949-64490959 chr11:64490732-64490742
17	CHD2	chr11:64490569-64491391	H1-hESC	embryonic stem cell:	n/a	chr11:64490636-64490646 chr11:64490942-64490952 chr11:64490949-64490959 chr11:64490732-64490742
18	CHD2	chr11:64490939-64491239	HepG2	liver:	n/a	chr11:64490942-64490952 chr11:64490949-64490959
19	CREB1	chr11:64490486-64491306	GM12878	blood:	n/a	n/a
20	CREB1	chr11:64490471-64491260	H1-hESC	embryonic stem cell:	n/a	n/a
21	CREB1	chr11:64490563-64490872	A549	lung:	n/a	n/a
22	CREB1	chr11:64490938-64491237	A549	lung:	n/a	n/a
23	CTBP2	chr11:64490675-64491339	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr11:64491040-64491190	AG10803	skin:	n/a	chr11:64491104-64491120 chr11:64491122-64491131 chr11:64491105-64491118 chr11:64491098-64491119 chr11:64491105-64491118 chr11:64491103-64491121
25	CTCF	chr11:64491020-64491170	RPTEC	kidney:	n/a	chr11:64491104-64491120 chr11:64491122-64491131 chr11:64491105-64491118 chr11:64491098-64491119 chr11:64491105-64491118 chr11:64491103-64491121
26	CTCF	chr11:64491548-64491640	GM19239	blood:	n/a	n/a
27	CTCF	chr11:64491840-64491990	GM12875	blood:	n/a	n/a
28	CTCF	chr11:64491020-64491170	GM12874	blood:	n/a	chr11:64491104-64491120 chr11:64491122-64491131 chr11:64491105-64491118 chr11:64491098-64491119 chr11:64491105-64491118 chr11:64491103-64491121
29	CTCF	chr11:64490962-64491264	GM10266	blood:	n/a	chr11:64491104-64491120 chr11:64491122-64491131 chr11:64491105-64491118 chr11:64490999-64491007 chr11:64491098-64491119 chr11:64491105-64491118 chr11:64491103-64491121
30	CTCF	chr11:64490854-64491445	MCF-7	breast:	n/a	chr11:64491104-64491120 chr11:64491122-64491131 chr11:64491105-64491118 chr11:64490999-64491007 chr11:64491098-64491119 chr11:64491105-64491118 chr11:64491103-64491121
31	CTCF	chr11:64490933-64491202	ECC-1	luminal epithelium:	n/a	chr11:64491104-64491120 chr11:64491122-64491131 chr11:64491105-64491118 chr11:64490999-64491007 chr11:64491098-64491119 chr11:64491105-64491118 chr11:64491103-64491121
32	CTCF	chr11:64490968-64491242	Hela-S3	cervix:	n/a	chr11:64491104-64491120 chr11:64491122-64491131 chr11:64491105-64491118 chr11:64490999-64491007 chr11:64491098-64491119 chr11:64491105-64491118 chr11:64491103-64491121
33	CTCF	chr11:64491040-64491190	NHEK	skin:	n/a	chr11:64491104-64491120 chr11:64491122-64491131 chr11:64491105-64491118 chr11:64491098-64491119 chr11:64491105-64491118 chr11:64491103-64491121
34	CTCF	chr11:64490951-64491247	Kidney_OC	kidney:	n/a	chr11:64491104-64491120 chr11:64491122-64491131 chr11:64491105-64491118 chr11:64490999-64491007 chr11:64491098-64491119 chr11:64491105-64491118 chr11:64491103-64491121
35	CTCF	chr11:64491040-64491190	HVMF	connective:	n/a	chr11:64491104-64491120 chr11:64491122-64491131 chr11:64491105-64491118 chr11:64491098-64491119 chr11:64491105-64491118 chr11:64491103-64491121
36	CTCF	chr11:64491020-64491170	BE2_C	brain:	n/a	chr11:64491104-64491120 chr11:64491122-64491131 chr11:64491105-64491118 chr11:64491098-64491119 chr11:64491105-64491118 chr11:64491103-64491121
37	CTCF	chr11:64490957-64491280	NHEK	skin:	n/a	chr11:64491104-64491120 chr11:64491122-64491131 chr11:64491105-64491118 chr11:64490999-64491007 chr11:64491098-64491119 chr11:64491105-64491118 chr11:64491103-64491121
38	CTCF	chr11:64491060-64491210	GM12865	blood:	n/a	chr11:64491104-64491120 chr11:64491122-64491131 chr11:64491105-64491118 chr11:64491098-64491119 chr11:64491105-64491118 chr11:64491103-64491121
39	CTCF	chr11:64491040-64491190	HEEpiC	esophagus:	n/a	chr11:64491104-64491120 chr11:64491122-64491131 chr11:64491105-64491118 chr11:64491098-64491119 chr11:64491105-64491118 chr11:64491103-64491121
40	CTCF	chr11:64491000-64491150	GM12872	blood:	n/a	chr11:64491104-64491120 chr11:64491122-64491131 chr11:64491105-64491118 chr11:64491098-64491119 chr11:64491105-64491118 chr11:64491103-64491121
41	CTCF	chr11:64491040-64491190	GM12874	blood:	n/a	chr11:64491104-64491120 chr11:64491122-64491131 chr11:64491105-64491118 chr11:64491098-64491119 chr11:64491105-64491118 chr11:64491103-64491121
42	CTCF	chr11:64491700-64491850	GM12872	blood:	n/a	n/a
43	CTCF	chr11:64491020-64491170	SAEC	small airway:	n/a	chr11:64491104-64491120 chr11:64491122-64491131 chr11:64491105-64491118 chr11:64491098-64491119 chr11:64491105-64491118 chr11:64491103-64491121
44	CTCF	chr11:64491060-64491210	HCM	heart:	n/a	chr11:64491104-64491120 chr11:64491122-64491131 chr11:64491105-64491118 chr11:64491098-64491119 chr11:64491105-64491118 chr11:64491103-64491121
45	CTCF	chr11:64491040-64491190	AoAF	blood vessel:	n/a	chr11:64491104-64491120 chr11:64491122-64491131 chr11:64491105-64491118 chr11:64491098-64491119 chr11:64491105-64491118 chr11:64491103-64491121
46	CTCF	chr11:64490823-64490872	GM10266	blood:	n/a	n/a
47	CTCF	chr11:64491040-64491190	AG09319	gingival:	n/a	chr11:64491104-64491120 chr11:64491122-64491131 chr11:64491105-64491118 chr11:64491098-64491119 chr11:64491105-64491118 chr11:64491103-64491121
48	CTCF	chr11:64491282-64491289	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr11:64490961-64491258	MCF-7	breast:	n/a	chr11:64491104-64491120 chr11:64491122-64491131 chr11:64491105-64491118 chr11:64490999-64491007 chr11:64491098-64491119 chr11:64491105-64491118 chr11:64491103-64491121
50	CTCF	chr11:64491040-64491190	GM12865	blood:	n/a	chr11:64491104-64491120 chr11:64491122-64491131 chr11:64491105-64491118 chr11:64491098-64491119 chr11:64491105-64491118 chr11:64491103-64491121

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:64492155-64492205	BJ	skin:	n/a
2	chr11:64491106-64491156	K562	blood:	n/a
3	chr11:64490810-64490860	AG10803	skin:	n/a
4	chr11:64490633-64490683	AG09309	skin:	n/a
5	chr11:64490808-64490858	GM06990	blood:	n/a
6	chr11:64490871-64490921	Hepatocyte	liver:	n/a
7	chr11:64491089-64491139	HL-60	blood:	n/a
8	chr11:64490672-64490722	HNPCEpiC	eye:	n/a
9	chr11:64490743-64490793	U87	brain:	n/a
10	chr11:64491434-64491484	H1-hESC	embryonic stem cell:	embryo
11	chr11:64490633-64490683	Caco-2	colon:	n/a
12	chr11:64490633-64490683	AG04450	lung:	fetal
13	chr11:64491331-64491381	HCM	heart:	n/a
14	chr11:64491639-64491689	HepG2	liver:	n/a
15	chr11:64490672-64490722	NB4	blood:	n/a
16	chr11:64490743-64490793	Hela-S3	cervix:	n/a
17	chr11:64490808-64490858	AG09319	gingival:	n/a
18	chr11:64490871-64490921	GM12878	blood:	n/a
19	chr11:64490808-64490858	SK-N-SH_RA	brain:	n/a
20	chr11:64490672-64490722	PFSK-1	brain:	n/a
21	chr11:64490808-64490858	HepG2	liver:	n/a
22	chr11:64491106-64491156	HCF	heart:	n/a
23	chr11:64490871-64490921	Jurkat	blood:	n/a
24	chr11:64491089-64491139	AG09309	skin:	n/a
25	chr11:64491434-64491484	RPTEC	kidney:	n/a
26	chr11:64490672-64490722	SK-N-SH	brain:	n/a
27	chr11:64491331-64491381	GM12892	blood:	n/a
28	chr11:64491639-64491689	HCM	heart:	n/a
29	chr11:64490672-64490722	RPTEC	kidney:	n/a
30	chr11:64491434-64491484	Hela-S3	cervix:	n/a
31	chr11:64490743-64490793	ProgFib	skin:	n/a
32	chr11:64491434-64491484	GM12891	blood:	n/a
33	chr11:64490810-64490860	HMEC	breast:	n/a
34	chr11:64490672-64490722	AG04450	lung:	fetal
35	chr11:64492155-64492205	AG04450	lung:	fetal
36	chr11:64490808-64490858	AG04449	skin:	fetal
37	chr11:64492155-64492205	HCPEpiC	choroid plexus:	n/a
38	chr11:64490736-64490786	HNPCEpiC	eye:	n/a
39	chr11:64490736-64490786	HCF	heart:	n/a
40	chr11:64491434-64491484	HIPEpiC	eye:	n/a
41	chr11:64490672-64490722	Hela-S3	cervix:	n/a
42	chr11:64490494-64490544	HRCEpiC	kidney:	n/a
43	chr11:64490808-64490858	HCF	heart:	n/a
44	chr11:64491089-64491139	HNPCEpiC	eye:	n/a
45	chr11:64491106-64491156	GM12892	blood:	n/a
46	chr11:64491434-64491484	NB4	blood:	n/a
47	chr11:64490743-64490793	RPTEC	kidney:	n/a
48	chr11:64491434-64491484	NT2-D1	testis:	n/a
49	chr11:64490810-64490860	HEEpiC	esophagus:	n/a
50	chr11:64491331-64491381	HMEC	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:64489296..64491902-chr11:64644473..64646300,2	MCF-7	breast:
2	chr11:64488142..64490863-chr11:64506214..64508875,2	MCF-7	breast:
3	chr11:64489234..64490973-chr11:64491983..64494707,2	K562	blood:
4	chr11:64489351..64492621-chr11:64507509..64512935,5	K562	blood:
5	chr11:64126498..64128019-chr11:64487243..64489770,2	K562	blood:
6	chr11:64490664..64492722-chr11:64991494..64993936,2	MCF-7	breast:
7	chr11:64491144..64492732-chr11:64505276..64507287,3	K562	blood:
8	chr11:64455433..64456290-chr11:64492003..64492618,2	MCF-7	breast:
9	chr11:64490193..64492198-chr11:64544563..64546459,2	MCF-7	breast:
10	chr11:64485321..64487763-chr11:64492091..64495003,2	K562	blood:
11	chr11:64478255..64481463-chr11:64489766..64492365,3	K562	blood:
12	chr11:64490496..64491176-chr11:64510209..64510932,2	MCF-7	breast:
13	chr11:64421324..64422093-chr11:64491806..64492706,2	K562	blood:
14	chr11:64420274..64420985-chr11:64490663..64491460,2	K562	blood:
15	chr11:64489616..64492284-chr11:64509871..64511516,3	K562	blood:
16	chr11:64418420..64419024-chr11:64490995..64491544,2	MCF-7	breast:
17	chr11:64484197..64486078-chr11:64487763..64489732,2	K562	blood:

Variant related genes	Relation type
NRXN2	TF binding region
NRXN2	CpG island
ENSG00000269038	chromatin interactions
ENSG00000068831	chromatin interactions
ENSG00000110047	chromatin interactions
ENSG00000168066	chromatin interactions
ENSG00000110076	chromatin interactions
ENSG00000162302	chromatin interactions

Extended variants
information (count: 77 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146375334	chr11:64489253-64489254	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs563734436	chr11:64489254-64489255	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs375489199	chr11:64489261-64489262	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs554644927	chr11:64489319-64489320	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs139740830	chr11:64489355-64489356	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs546447056	chr11:64489374-64489375	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs144532856	chr11:64489458-64489459	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs188747976	chr11:64489464-64489465	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs189983452	chr11:64489472-64489473	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs568159718	chr11:64489502-64489503	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs368507317	chr11:64489513-64489514	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs550580688	chr11:64489547-64489548	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs576125605	chr11:64489551-64489552	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs541542323	chr11:64489600-64489601	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs182483135	chr11:64489656-64489657	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs71049655	chr11:64489688-64489689	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs539086070	chr11:64489707-64489708	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs553188158	chr11:64489758-64489759	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs35430666	chr11:64489813-64489814	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs566665850	chr11:64489956-64489957	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs535264350	chr11:64490056-64490057	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs376708361	chr11:64490082-64490083	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs372320746	chr11:64490104-64490105	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs2375335	chr11:64490123-64490124	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs368042299	chr11:64490127-64490128	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs543475095	chr11:64490217-64490218	Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs12806334	chr11:64490312-64490313	Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs557194516	chr11:64490364-64490365	Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs549027788	chr11:64490423-64490424	Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs552879253	chr11:64490433-64490434	Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs568754108	chr11:64490434-64490435	Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs577120924	chr11:64490475-64490476	Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs545886449	chr11:64490513-64490514	Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs559985124	chr11:64490585-64490586	Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs528841126	chr11:64490673-64490674	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs71579884	chr11:64490699-64490700	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs187136466	chr11:64490778-64490779	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs527266853	chr11:64490787-64490788	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs562304673	chr11:64490810-64490811	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs149113543	chr11:64490876-64490877	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs191276579	chr11:64490882-64490883	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs550670707	chr11:64490891-64490892	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs71579885	chr11:64491021-64491022	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs71579886	chr11:64491058-64491059	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs546322051	chr11:64491145-64491146	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs557115447	chr11:64491160-64491161	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs80140670	chr11:64491278-64491279	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs535392840	chr11:64491293-64491294	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs369012249	chr11:64491346-64491347	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs568682090	chr11:64491366-64491367	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

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	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
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:374 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64480400-64489800	Enhancers	Fetal Brain Male	brain
2	chr11:64487000-64490600	Weak transcription	K562	blood
3	chr11:64487800-64489800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:64488000-64489600	Flanking Active TSS	Fetal Brain Female	brain
5	chr11:64488000-64490000	Flanking Active TSS	Brain Germinal Matrix	brain
6	chr11:64488400-64489600	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr11:64488600-64490600	Weak transcription	Spleen	Spleen
8	chr11:64488600-64491200	Active TSS	Brain Angular Gyrus	brain
9	chr11:64488600-64491200	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr11:64488800-64489400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:64489000-64489400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:64489000-64489400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:64489000-64490000	Active TSS	Brain Substantia Nigra	brain
14	chr11:64489000-64491200	Active TSS	Brain Anterior Caudate	brain
15	chr11:64489200-64489400	Flanking Active TSS	Brain Hippocampus Middle	brain
16	chr11:64489200-64489800	Active TSS	Brain Cingulate Gyrus	brain
17	chr11:64489200-64490000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:64489400-64489600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
19	chr11:64489400-64489600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
20	chr11:64489400-64489800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:64489400-64490000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr11:64489400-64490000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr11:64489400-64490200	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:64489400-64490200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
25	chr11:64489400-64491000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr11:64489400-64491200	Active TSS	Brain Hippocampus Middle	brain
27	chr11:64489600-64490000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr11:64489600-64490200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
29	chr11:64489600-64490200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
30	chr11:64489600-64491200	Active TSS	Fetal Brain Female	brain
31	chr11:64489800-64490000	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:64489800-64490000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
33	chr11:64489800-64490000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr11:64489800-64490000	Flanking Active TSS	Fetal Brain Male	brain
35	chr11:64489800-64490200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:64489800-64490200	Flanking Active TSS	Brain Cingulate Gyrus	brain
37	chr11:64489800-64490600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
38	chr11:64489800-64490800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr11:64490000-64490200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:64490000-64490200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr11:64490000-64490200	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr11:64490000-64490200	Flanking Active TSS	Brain Substantia Nigra	brain
43	chr11:64490000-64490200	Active TSS	Fetal Brain Male	brain
44	chr11:64490000-64490400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr11:64490000-64490400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
46	chr11:64490000-64490400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
47	chr11:64490000-64490400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr11:64490000-64490400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
49	chr11:64490000-64490600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr11:64490000-64490600	Enhancers	Primary B cells from peripheral blood	blood

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