Variant report

Variant	esv3395260
Chromosome Location	chr11:64058601-64061149
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:732)
Chromatin interactive
region (count:14)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr11:64059313-64059703	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr11:64059512-64059782	GM12878	blood:	n/a	chr11:64059701-64059717
3	CTBP2	chr11:64058361-64059911	H1-hESC	embryonic stem cell:	n/a	n/a
4	EBF1	chr11:64059419-64059766	GM12878	blood:	n/a	n/a
5	EGR1	chr11:64059286-64059750	K562	blood:	n/a	chr11:64059637-64059647 chr11:64059548-64059558 chr11:64059635-64059648 chr11:64059693-64059707 chr11:64059592-64059601 chr11:64059695-64059705 chr11:64059501-64059523 chr11:64059348-64059358
6	EGR1	chr11:64059559-64059739	GM12878	blood:	n/a	chr11:64059637-64059647 chr11:64059635-64059648 chr11:64059693-64059707 chr11:64059592-64059601 chr11:64059695-64059705
7	EGR1	chr11:64059482-64059869	ECC-1	luminal epithelium:	n/a	chr11:64059637-64059647 chr11:64059548-64059558 chr11:64059635-64059648 chr11:64059693-64059707 chr11:64059592-64059601 chr11:64059695-64059705 chr11:64059501-64059523
8	GABPA	chr11:64058729-64059312	H1-hESC	embryonic stem cell:	n/a	n/a
9	GATA2	chr11:64058675-64059033	SH-SY5Y	brain:	n/a	n/a
10	JUND	chr11:64058505-64058690	H1-hESC	embryonic stem cell:	n/a	chr11:64058638-64058652
11	MXI1	chr11:64058325-64060172	SK-N-SH	brain:	n/a	n/a
12	MXI1	chr11:64059169-64059899	IMR90	lung:	n/a	n/a
13	MYC	chr11:64059551-64059564	MCF-7	breast:	n/a	n/a
14	MYC	chr11:64059420-64059535	MCF-7	breast:	n/a	n/a
15	MYC	chr11:64059568-64059570	MCF-7	breast:	n/a	n/a
16	MYC	chr11:64059543-64059546	MCF-7	breast:	n/a	n/a
17	PAX5	chr11:64059219-64059752	GM12892	blood:	n/a	chr11:64059392-64059411
18	POLR2A	chr11:64058881-64059938	H1-neurons	neurons:	n/a	n/a
19	POLR2A	chr11:64058882-64060134	H1-neurons	neurons:	n/a	n/a
20	POLR2A	chr11:64057914-64058973	PANC-1	pancreas:	n/a	n/a
21	POLR2A	chr11:64060807-64060818	K562	blood:	n/a	n/a
22	POLR2A	chr11:64058407-64058609	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr11:64060742-64060793	K562	blood:	n/a	n/a
24	REST	chr11:64059157-64059995	H1-neurons	neurons:	n/a	chr11:64059816-64059829 chr11:64059881-64059894
25	SUZ12	chr11:64058028-64060943	NT2-D1	testis:	n/a	n/a
26	SUZ12	chr11:64058751-64061073	H1-hESC	embryonic stem cell:	n/a	n/a
27	ZBTB7A	chr11:64059038-64059171	K562	blood:	n/a	n/a
28	ZNF263	chr11:64058517-64058636	HEK293-T-REx	kidney:	n/a	n/a

(count:732 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:64059937-64059987	GM12892	blood:	n/a
2	chr11:64059937-64059987	MCF-7	breast:	n/a
3	chr11:64059479-64059529	ovcar-3	ovarian:	n/a
4	chr11:64058704-64058754	HPAEpiC	pulmonary alveolar:	n/a
5	chr11:64059054-64059104	Caco-2	colon:	n/a
6	chr11:64059937-64059987	H1-hESC	embryonic stem cell:	embryo
7	chr11:64059479-64059529	Hela-S3	cervix:	n/a
8	chr11:64059453-64059503	LNCaP	prostate:	n/a
9	chr11:64058937-64058987	HRCEpiC	kidney:	n/a
10	chr11:64059453-64059503	NHBE	bronchial:	n/a
11	chr11:64059307-64059357	HAEpiC	amniotic membrane:	n/a
12	chr11:64060409-64060459	HCM	heart:	n/a
13	chr11:64059057-64059107	HRCEpiC	kidney:	n/a
14	chr11:64060409-64060459	HepG2	liver:	n/a
15	chr11:64059479-64059529	HCF	heart:	n/a
16	chr11:64060409-64060459	HCT-116	colon:	n/a
17	chr11:64059307-64059357	HNPCEpiC	eye:	n/a
18	chr11:64058878-64058928	HRPEpiC	eye:	n/a
19	chr11:64059054-64059104	ovcar-3	ovarian:	n/a
20	chr11:64059057-64059107	LNCaP	prostate:	n/a
21	chr11:64059594-64059644	T-47D	breast:	n/a
22	chr11:64059057-64059107	GM12891	blood:	n/a
23	chr11:64059594-64059644	HPAEpiC	pulmonary alveolar:	n/a
24	chr11:64059937-64059987	NB4	blood:	n/a
25	chr11:64059937-64059987	HNPCEpiC	eye:	n/a
26	chr11:64059453-64059503	SK-N-SH_RA	brain:	n/a
27	chr11:64059594-64059644	HEK293	kidney:	embryo
28	chr11:64060409-64060459	AG04450	lung:	fetal
29	chr11:64059453-64059503	HCT-116	colon:	n/a
30	chr11:64059916-64059966	AoSMC	blood vessel:	n/a
31	chr11:64059057-64059107	NB4	blood:	n/a
32	chr11:64060409-64060459	HAEpiC	amniotic membrane:	n/a
33	chr11:64059594-64059644	CMK	blood:	n/a
34	chr11:64059916-64059966	SAEC	small airway:	n/a
35	chr11:64059594-64059644	H1-hESC	embryonic stem cell:	embryo
36	chr11:64059307-64059357	SAEC	small airway:	n/a
37	chr11:64059594-64059644	HMEC	breast:	n/a
38	chr11:64059594-64059644	AG09309	skin:	n/a
39	chr11:64060409-64060459	HEK293	kidney:	embryo
40	chr11:64059594-64059644	Caco-2	colon:	n/a
41	chr11:64059916-64059966	A549	lung:	n/a
42	chr11:64059054-64059104	H1-hESC	embryonic stem cell:	embryo
43	chr11:64059057-64059107	HRPEpiC	eye:	n/a
44	chr11:64059307-64059357	HRE	kidney:	n/a
45	chr11:64060409-64060459	SK-N-SH	brain:	n/a
46	chr11:64059479-64059529	AG04449	skin:	fetal
47	chr11:64059479-64059529	GM06990	blood:	n/a
48	chr11:64059054-64059104	SAEC	small airway:	n/a
49	chr11:64059307-64059357	NB4	blood:	n/a
50	chr11:64059307-64059357	PFSK-1	brain:	n/a

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64033188..64045448-chr11:64059274..64075790,38	MCF-7	breast:
2	chr11:64003822..64006272-chr11:64058913..64060452,2	MCF-7	breast:
3	chr11:64012590..64014829-chr11:64057902..64059525,2	MCF-7	breast:
4	chr11:64017360..64020043-chr11:64060077..64062122,2	MCF-7	breast:
5	chr11:64021477..64024375-chr11:64060158..64061742,2	MCF-7	breast:
6	chr11:63973628..63976272-chr11:64056827..64059574,2	MCF-7	breast:
7	chr11:64028329..64041732-chr11:64049023..64058851,39	MCF-7	breast:
8	chr11:64035819..64037712-chr11:64056886..64059211,2	MCF-7	breast:
9	chr11:64013225..64015116-chr11:64056938..64059333,2	MCF-7	breast:
10	chr11:64058435..64061008-chr11:64080225..64081908,2	K562	blood:
11	chr11:64046688..64048904-chr11:64060394..64063372,2	MCF-7	breast:
12	chr11:64015797..64019000-chr11:64055834..64058652,3	MCF-7	breast:
13	chr11:64013373..64015770-chr11:64059905..64062431,2	MCF-7	breast:
14	chr11:63993205..63994873-chr11:64060700..64063524,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNK4-1	chr11:64058774-64059038	NONHSAT021980

No data

Variant related genes	Relation type
ENSG00000257069	TF binding region
ENSG00000207024	TF binding region
KCNK4	TF binding region
ENSG00000257069	CpG island
ENSG00000207024	CpG island
KCNK4	CpG island
ENSG00000149761	chromatin interactions
ENSG00000173153	chromatin interactions
ENSG00000149781	chromatin interactions
ENSG00000173264	chromatin interactions
ENSG00000256940	chromatin interactions
ENSG00000257086	chromatin interactions
ENSG00000002330	chromatin interactions
ENSG00000173511	chromatin interactions
ENSG00000149743	chromatin interactions
ENSG00000173457	chromatin interactions
ENSG00000149782	chromatin interactions

Extended variants
information (count: 88 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112196950	chr11:64058648-64058649	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
2	rs146915989	chr11:64058705-64058706	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs200249476	chr11:64058709-64058710	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
4	rs533957735	chr11:64058761-64058762	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
5	rs2232410	chr11:64058822-64058823	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs576538210	chr11:64058901-64058902	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
7	rs545416408	chr11:64058902-64058903	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
8	rs113399126	chr11:64058934-64058935	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
9	rs368149223	chr11:64058950-64058951	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
10	rs181395883	chr11:64058974-64058975	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
11	rs111390003	chr11:64059013-64059014	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
12	rs557525635	chr11:64059079-64059080	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs35783288	chr11:64059172-64059173	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs560834047	chr11:64059192-64059193	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs529836672	chr11:64059266-64059267	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs12806907	chr11:64059278-64059279	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs549855593	chr11:64059300-64059301	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs569762210	chr11:64059314-64059315	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs185828647	chr11:64059327-64059328	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs552238437	chr11:64059389-64059390	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs565945398	chr11:64059452-64059453	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs576125462	chr11:64059472-64059473	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs553769507	chr11:64059487-64059488	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs116955504	chr11:64059508-64059509	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs536354731	chr11:64059539-64059540	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs556609465	chr11:64059598-64059599	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs576605286	chr11:64059647-64059648	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs4635085	chr11:64059680-64059681	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs545561027	chr11:64059698-64059699	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs543623056	chr11:64059714-64059715	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs376195770	chr11:64059739-64059740	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs6591840	chr11:64059747-64059748	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs560871176	chr11:64059748-64059749	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs574446752	chr11:64059836-64059837	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs543584901	chr11:64059840-64059841	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs115681636	chr11:64059843-64059844	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs76845349	chr11:64059921-64059922	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs552336358	chr11:64059938-64059939	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs368214465	chr11:64059951-64059952	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs528371301	chr11:64059960-64059961	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs529119628	chr11:64060049-64060050	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs567361661	chr11:64060147-64060148	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs34005201	chr11:64060182-64060183	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs556037575	chr11:64060200-64060201	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs536241341	chr11:64060204-64060205	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs113952674	chr11:64060205-64060206	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs2232411	chr11:64060283-64060284	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs576206725	chr11:64060313-64060314	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
49	rs570118744	chr11:64060355-64060356	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs538724134	chr11:64060374-64060375	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	21785460	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Prostate cancer	18779856	CNVD
Cancer	17160897	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD

Chromatin state (count:321 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64054200-64058800	Weak transcription	Ovary	ovary
2	chr11:64054200-64059200	Weak transcription	HSMMtube	muscle
3	chr11:64054400-64058800	Weak transcription	A549	lung
4	chr11:64054600-64058800	Weak transcription	Right Ventricle	heart
5	chr11:64056200-64058800	Weak transcription	Pancreas	Pancrea
6	chr11:64057200-64058800	Weak transcription	Spleen	Spleen
7	chr11:64057800-64059200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
8	chr11:64058000-64059000	Bivalent Enhancer	Fetal Brain Male	brain
9	chr11:64058200-64058800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:64058200-64058800	Bivalent Enhancer	Placenta	Placenta
11	chr11:64058200-64060200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr11:64058200-64061600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
13	chr11:64058400-64058800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
14	chr11:64058400-64058800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:64058400-64058800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
16	chr11:64058400-64058800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:64058400-64058800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
18	chr11:64058400-64058800	Flanking Active TSS	Brain Angular Gyrus	brain
19	chr11:64058400-64058800	Enhancers	Brain Cingulate Gyrus	brain
20	chr11:64058400-64058800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
21	chr11:64058400-64059000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
22	chr11:64058400-64059000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:64058400-64059000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr11:64058400-64059200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:64058400-64060000	Bivalent/Poised TSS	Fetal Brain Female	brain
26	chr11:64058400-64060200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:64058400-64060400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr11:64058400-64060600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr11:64058600-64058800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr11:64058600-64058800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
31	chr11:64058600-64058800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
32	chr11:64058600-64058800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr11:64058600-64058800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
34	chr11:64058600-64058800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr11:64058600-64058800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:64058600-64058800	Flanking Active TSS	Brain Anterior Caudate	brain
37	chr11:64058600-64058800	Enhancers	Gastric	stomach
38	chr11:64058600-64059000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr11:64058600-64059000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr11:64058600-64059000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
41	chr11:64058600-64059000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
42	chr11:64058600-64059000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:64058600-64059000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
44	chr11:64058600-64059000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
45	chr11:64058600-64059000	Bivalent Enhancer	Colonic Mucosa	Colon
46	chr11:64058600-64059000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
47	chr11:64058600-64059000	Bivalent Enhancer	Fetal Stomach	stomach
48	chr11:64058600-64059000	Bivalent Enhancer	Fetal Thymus	thymus
49	chr11:64058600-64059000	Bivalent Enhancer	Stomach Mucosa	stomach
50	chr11:64058600-64059200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle

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