Variant report

Variant	nsv897919
Chromosome Location	chr11:74862391-74875501
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:219)
CpG islands
(count:427)
Chromatin interactive
region (count:18)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:219 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:74866852-74867509	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:74870645-74870926	HepG2	liver:	n/a	n/a
3	ATF1	chr11:74867177-74867444	K562	blood:	n/a	n/a
4	BACH1	chr11:74867220-74867420	K562	blood:	n/a	n/a
5	BHLHE40	chr11:74867265-74867469	K562	blood:	n/a	n/a
6	BHLHE40	chr11:74870522-74871026	HepG2	liver:	n/a	n/a
7	BRCA1	chr11:74870632-74870729	HepG2	liver:	n/a	n/a
8	CEBPB	chr11:74867137-74867486	HepG2	liver:	n/a	n/a
9	CHD2	chr11:74870116-74870178	HepG2	liver:	n/a	n/a
10	CHD2	chr11:74870577-74871047	HepG2	liver:	n/a	n/a
11	CHD2	chr11:74875267-74876070	HepG2	liver:	n/a	n/a
12	CHD2	chr11:74862448-74862546	HepG2	liver:	n/a	n/a
13	CHD2	chr11:74873202-74873399	HepG2	liver:	n/a	n/a
14	CHD2	chr11:74867129-74867411	HepG2	liver:	n/a	n/a
15	CTCF	chr11:74870040-74870190	NHEK	skin:	n/a	chr11:74870144-74870157
16	CTCF	chr11:74870040-74870190	A549	lung:	n/a	chr11:74870144-74870157
17	CTCF	chr11:74870160-74870310	K562	blood:	n/a	chr11:74870221-74870229
18	CTCF	chr11:74870160-74870310	HepG2	liver:	n/a	chr11:74870221-74870229
19	CTCF	chr11:74870140-74870290	Caco-2	colon:	n/a	chr11:74870221-74870229 chr11:74870144-74870157
20	CTCF	chr11:74870173-74870284	HepG2	liver:	n/a	chr11:74870221-74870229
21	CTCF	chr11:74870060-74870210	MCF-7	breast:	n/a	chr11:74870144-74870157
22	CTCF	chr11:74870157-74870293	MCF-7	breast:	n/a	chr11:74870221-74870229
23	CTCF	chr11:74870086-74870316	HepG2	liver:	n/a	chr11:74870221-74870229 chr11:74870144-74870157
24	CTCF	chr11:74870149-74870277	MCF-7	breast:	n/a	chr11:74870221-74870229
25	CTCF	chr11:74870143-74870294	H1-hESC	embryonic stem cell:	n/a	chr11:74870221-74870229 chr11:74870144-74870157
26	CTCF	chr11:74870120-74870270	RPTEC	kidney:	n/a	chr11:74870221-74870229 chr11:74870144-74870157
27	CTCF	chr11:74870133-74870198	Kidney_OC	kidney:	n/a	chr11:74870144-74870157
28	CTCF	chr11:74870038-74870360	H1-hESC	embryonic stem cell:	n/a	chr11:74870221-74870229 chr11:74870144-74870157
29	CTCF	chr11:74870170-74870248	MCF-7	breast:	n/a	chr11:74870221-74870229
30	CTCF	chr11:74870139-74870274	MCF-7	breast:	n/a	chr11:74870221-74870229 chr11:74870144-74870157
31	CTCF	chr11:74870180-74870330	WERI-Rb-1	eye:	n/a	chr11:74870221-74870229
32	CTCF	chr11:74870195-74870249	MCF-7	breast:	n/a	chr11:74870221-74870229
33	CTCF	chr11:74866960-74867110	Caco-2	colon:	n/a	n/a
34	EGR1	chr11:74867215-74867419	K562	blood:	n/a	n/a
35	ELF1	chr11:74870565-74870938	HepG2	liver:	n/a	n/a
36	ELF1	chr11:74874384-74874711	GM12878	blood:	n/a	n/a
37	EP300	chr11:74870546-74870942	HepG2	liver:	n/a	n/a
38	EP300	chr11:74866925-74867533	HepG2	liver:	n/a	n/a
39	EP300	chr11:74866993-74867507	HepG2	liver:	n/a	n/a
40	EP300	chr11:74870457-74871109	HepG2	liver:	n/a	n/a
41	EP300	chr11:74875353-74876317	HepG2	liver:	n/a	chr11:74875789-74875796 chr11:74876028-74876041
42	EP300	chr11:74866755-74867512	HepG2	liver:	n/a	n/a
43	EP300	chr11:74870594-74870970	HepG2	liver:	n/a	n/a
44	EP300	chr11:74867211-74867415	K562	blood:	n/a	n/a
45	FOXA1	chr11:74870508-74871091	HepG2	liver:	n/a	n/a
46	FOXA1	chr11:74870608-74870969	HepG2	liver:	n/a	n/a
47	FOXA1	chr11:74866879-74867473	HepG2	liver:	n/a	n/a
48	FOXA1	chr11:74866835-74867447	HepG2	liver:	n/a	n/a
49	FOXA1	chr11:74866800-74867569	HepG2	liver:	n/a	n/a
50	FOXA1	chr11:74866738-74867487	HepG2	liver:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:74875013-74875063	HIPEpiC	eye:	n/a
2	chr11:74870640-74870690	CMK	blood:	n/a
3	chr11:74870640-74870690	MCF10A-Er-Src	breast:	n/a
4	chr11:74870452-74870502	HCPEpiC	choroid plexus:	n/a
5	chr11:74870640-74870690	AG09319	gingival:	n/a
6	chr11:74870268-74870318	HepG2	liver:	n/a
7	chr11:74870675-74870725	BJ	skin:	n/a
8	chr11:74870268-74870318	MCF10A-Er-Src	breast:	n/a
9	chr11:74870741-74870791	HCPEpiC	choroid plexus:	n/a
10	chr11:74870640-74870690	PrEC	prostate:	n/a
11	chr11:74870675-74870725	H1-hESC	embryonic stem cell:	embryo
12	chr11:74875013-74875063	IMR90	lung:	fetal
13	chr11:74870675-74870725	ovcar-3	ovarian:	n/a
14	chr11:74870268-74870318	HCT-116	colon:	n/a
15	chr11:74871202-74871252	Hepatocyte	liver:	n/a
16	chr11:74870452-74870502	HCT-116	colon:	n/a
17	chr11:74871202-74871252	LNCaP	prostate:	n/a
18	chr11:74870452-74870502	NH-A	brain:	n/a
19	chr11:74870640-74870690	HMEC	breast:	n/a
20	chr11:74870741-74870791	NT2-D1	testis:	n/a
21	chr11:74870452-74870502	U87	brain:	n/a
22	chr11:74870640-74870690	HCT-116	colon:	n/a
23	chr11:74870452-74870502	HPAEpiC	pulmonary alveolar:	n/a
24	chr11:74875013-74875063	HRE	kidney:	n/a
25	chr11:74870452-74870502	HRCEpiC	kidney:	n/a
26	chr11:74870675-74870725	GM06990	blood:	n/a
27	chr11:74870741-74870791	HEK293	kidney:	embryo
28	chr11:74870675-74870725	NH-A	brain:	n/a
29	chr11:74870741-74870791	MCF10A-Er-Src	breast:	n/a
30	chr11:74870640-74870690	HRE	kidney:	n/a
31	chr11:74875013-74875063	NT2-D1	testis:	n/a
32	chr11:74875013-74875063	GM12878	blood:	n/a
33	chr11:74871202-74871252	HAEpiC	amniotic membrane:	n/a
34	chr11:74875013-74875063	NHDF-neo	bronchial:	n/a
35	chr11:74871202-74871252	SK-N-MC	brain:	n/a
36	chr11:74870268-74870318	Caco-2	colon:	n/a
37	chr11:74870452-74870502	SK-N-SH_RA	brain:	n/a
38	chr11:74870452-74870502	MCF10A-Er-Src	breast:	n/a
39	chr11:74871202-74871252	NHDF-neo	bronchial:	n/a
40	chr11:74870675-74870725	NHDF-neo	bronchial:	n/a
41	chr11:74871202-74871252	ovcar-3	ovarian:	n/a
42	chr11:74870675-74870725	CMK	blood:	n/a
43	chr11:74870452-74870502	HIPEpiC	eye:	n/a
44	chr11:74870640-74870690	SAEC	small airway:	n/a
45	chr11:74870268-74870318	SAEC	small airway:	n/a
46	chr11:74870452-74870502	IMR90	lung:	fetal
47	chr11:74870741-74870791	HCT-116	colon:	n/a
48	chr11:74871202-74871252	HNPCEpiC	eye:	n/a
49	chr11:74870675-74870725	MCF10A-Er-Src	breast:	n/a
50	chr11:74870268-74870318	ovcar-3	ovarian:	n/a

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:74860499..74862617-chr11:74862814..74864502,2	K562	blood:
2	chr11:74866771..74870278-chr11:74874697..74878251,4	K562	blood:
3	chr11:74869678..74870459-chr11:74915424..74916683,3	MCF-7	breast:
4	chr11:74868174..74870399-chr11:74871954..74873534,2	K562	blood:
5	chr11:74875175..74876729-chr11:74880662..74883580,2	MCF-7	breast:
6	chr11:74868174..74871042-chr11:74871954..74874502,2	K562	blood:
7	chr11:74860782..74862620-chr11:74866728..74869676,2	MCF-7	breast:
8	chr11:74860426..74862138-chr11:74866873..74869626,2	K562	blood:
9	chr11:74868174..74870399-chr11:74871954..74873534,2	K562	blood:
10	chr11:74866771..74870278-chr11:74874697..74878251,4	K562	blood:
11	chr11:74856790..74858510-chr11:74872953..74874736,2	K562	blood:
12	chr11:74854253..74855928-chr11:74871794..74874336,2	MCF-7	breast:
13	chr11:74867339..74870278-chr11:74875624..74878251,3	K562	blood:
14	chr11:74860782..74862620-chr11:74866728..74869676,2	MCF-7	breast:
15	chr11:74869846..74870366-chr11:74959734..74960273,2	MCF-7	breast:
16	chr11:74870955..74873792-chr11:74881314..74883069,2	K562	blood:
17	chr11:74860499..74862617-chr11:74862814..74864502,2	K562	blood:
18	chr11:74864381..74867462-chr11:74869783..74873226,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NEU3-2	chr11:74873700-74873968	NONHSAT023078
2	lnc-NEU3-2	chr11:74862124-74862442	NONHSAT023078

No data

Variant related genes	Relation type
SLCO2B1	TF binding region
SLCO2B1	CpG island
ENSG00000137491	chromatin interactions

Extended variants
information (count: 525 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:525 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1944612	chr11:74862391-74862392	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs374954881	chr11:74862403-74862404	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs111819571	chr11:74862420-74862421	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs141893689	chr11:74862426-74862427	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs145530420	chr11:74862439-74862440	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs201262805	chr11:74862450-74862451	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs553605309	chr11:74862454-74862455	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs368033691	chr11:74862476-74862477	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs34254982	chr11:74862483-74862484	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs376340009	chr11:74862509-74862510	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs561553373	chr11:74862511-74862512	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs374836550	chr11:74862518-74862519	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs369068857	chr11:74862519-74862520	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs530384574	chr11:74862532-74862533	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs574918635	chr11:74862533-74862534	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs78614120	chr11:74862575-74862576	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs566867260	chr11:74862581-74862582	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs148900144	chr11:74862623-74862624	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs552624140	chr11:74862641-74862642	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs370221192	chr11:74862642-74862643	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs188776931	chr11:74862680-74862681	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs557538760	chr11:74862720-74862721	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs542185898	chr11:74862747-74862748	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs113520167	chr11:74862835-74862836	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs567130927	chr11:74862855-74862856	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs536097499	chr11:74862860-74862861	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs2712808	chr11:74862863-74862864	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs10899078	chr11:74862866-74862867	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs2712809	chr11:74862883-74862884	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs558598724	chr11:74862884-74862885	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs575221963	chr11:74862943-74862944	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs201920732	chr11:74862988-74862989	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs552917871	chr11:74863001-74863002	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs373176871	chr11:74863002-74863003	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs530364052	chr11:74863038-74863039	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs540918324	chr11:74863123-74863124	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs560801015	chr11:74863125-74863126	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs532515285	chr11:74863181-74863182	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs551942785	chr11:74863191-74863192	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs552258886	chr11:74863206-74863207	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs143620829	chr11:74863259-74863260	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs540995305	chr11:74863271-74863272	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs2712810	chr11:74863283-74863284	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs542302510	chr11:74863296-74863297	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs529687538	chr11:74863356-74863357	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs547736217	chr11:74863439-74863440	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs191906522	chr11:74863442-74863443	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs138800964	chr11:74863450-74863451	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs566457798	chr11:74863459-74863460	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs538946469	chr11:74863470-74863471	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	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
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
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:471 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74856600-74863400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:74857400-74865600	Weak transcription	Small Intestine	intestine
3	chr11:74859000-74862400	Weak transcription	Liver	Liver
4	chr11:74859000-74863800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:74859200-74862400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr11:74859200-74863200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:74860000-74864000	Weak transcription	Spleen	Spleen
8	chr11:74861000-74862400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr11:74861200-74863600	Enhancers	Gastric	stomach
10	chr11:74861200-74868400	Active TSS	Brain Hippocampus Middle	brain
11	chr11:74861400-74862400	Enhancers	Fetal Stomach	stomach
12	chr11:74861400-74864000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
13	chr11:74861400-74866000	Active TSS	Brain Anterior Caudate	brain
14	chr11:74861600-74864800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
15	chr11:74861600-74866200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr11:74861600-74867200	Active TSS	Brain Cingulate Gyrus	brain
17	chr11:74861800-74863200	Enhancers	Fetal Muscle Trunk	muscle
18	chr11:74861800-74864600	Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr11:74861800-74864800	Active TSS	Rectal Smooth Muscle	rectum
20	chr11:74862000-74862400	Active TSS	Fetal Thymus	thymus
21	chr11:74862000-74862600	Flanking Active TSS	Pancreas	Pancrea
22	chr11:74862000-74862600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
23	chr11:74862000-74862800	Active TSS	Duodenum Mucosa	Duodenum
24	chr11:74862000-74862800	Bivalent Enhancer	NHEK	skin
25	chr11:74862000-74863000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:74862000-74863000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr11:74862000-74864600	Active TSS	Psoas Muscle	Psoas
28	chr11:74862000-74864800	Flanking Active TSS	Fetal Intestine Large	intestine
29	chr11:74862000-74864800	Flanking Active TSS	Fetal Muscle Leg	muscle
30	chr11:74862000-74864800	Flanking Active TSS	HepG2	liver
31	chr11:74862000-74865000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
32	chr11:74862000-74865200	Active TSS	Adipose Nuclei	Adipose
33	chr11:74862200-74862400	Flanking Active TSS	Colonic Mucosa	Colon
34	chr11:74862200-74862600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr11:74862200-74862600	Flanking Active TSS	Left Ventricle	heart
36	chr11:74862200-74862600	Flanking Active TSS	Stomach Mucosa	stomach
37	chr11:74862200-74862800	Active TSS	Right Ventricle	heart
38	chr11:74862200-74863000	Active TSS	Placenta	Placenta
39	chr11:74862200-74863200	Flanking Active TSS	Esophagus	oesophagus
40	chr11:74862200-74864400	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr11:74862200-74864400	Flanking Active TSS	Fetal Intestine Small	intestine
42	chr11:74862200-74864400	Active TSS	Ovary	ovary
43	chr11:74862200-74864800	Active TSS	Brain Angular Gyrus	brain
44	chr11:74862200-74864800	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr11:74862200-74864800	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr11:74862200-74864800	Active TSS	Lung	lung
47	chr11:74862200-74865000	Active TSS	Right Atrium	heart
48	chr11:74862200-74866000	Active TSS	Brain Substantia Nigra	brain
49	chr11:74862400-74862600	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr11:74862400-74862800	Active TSS	Colonic Mucosa	Colon

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