Variant report

Variant	esv3359778
Chromosome Location	chr11:63381726-63384024
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	ATF1	chr11:63381754-63382060	K562	blood:	n/a	n/a
2	BHLHE40	chr11:63381577-63382005	K562	blood:	n/a	chr11:63381715-63381731
3	BRCA1	chr11:63381655-63382033	Hela-S3	cervix:	n/a	n/a
4	CCNT2	chr11:63381251-63382133	K562	blood:	n/a	chr11:63381817-63381837
5	CEBPB	chr11:63383468-63383828	K562	blood:	n/a	chr11:63383640-63383651
6	CEBPB	chr11:63381834-63382073	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr11:63383462-63383770	HepG2	liver:	n/a	chr11:63383640-63383651
8	CEBPB	chr11:63383471-63383808	IMR90	lung:	n/a	chr11:63383640-63383651
9	CEBPB	chr11:63383602-63383797	H1-hESC	embryonic stem cell:	n/a	chr11:63383640-63383651
10	CEBPB	chr11:63383488-63383791	A549	lung:	n/a	chr11:63383640-63383651
11	CEBPB	chr11:63383547-63383792	Hela-S3	cervix:	n/a	chr11:63383640-63383651
12	CHD2	chr11:63381649-63381804	K562	blood:	n/a	n/a
13	CHD2	chr11:63381649-63382118	Hela-S3	cervix:	n/a	chr11:63381807-63381817 chr11:63381947-63381957
14	CREB1	chr11:63381650-63382173	H1-hESC	embryonic stem cell:	n/a	n/a
15	CREB1	chr11:63381322-63382275	A549	lung:	n/a	n/a
16	CREB1	chr11:63381763-63382005	A549	lung:	n/a	n/a
17	CTBP2	chr11:63381019-63382072	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr11:63382020-63382170	GM12868	blood:	n/a	n/a
19	CTCF	chr11:63381940-63382090	GM12874	blood:	n/a	n/a
20	CTCF	chr11:63381860-63382010	GM12866	blood:	n/a	n/a
21	E2F1	chr11:63381607-63382241	Hela-S3	cervix:	n/a	chr11:63382041-63382052 chr11:63381951-63381960 chr11:63382041-63382053 chr11:63382022-63382031
22	E2F6	chr11:63381622-63382228	A549	lung:	n/a	chr11:63381951-63381960 chr11:63382041-63382053 chr11:63382022-63382031
23	E2F6	chr11:63381625-63382149	K562	blood:	n/a	chr11:63381951-63381960 chr11:63382041-63382053 chr11:63382022-63382031
24	E2F6	chr11:63380932-63382264	H1-hESC	embryonic stem cell:	n/a	chr11:63381951-63381960 chr11:63382041-63382053 chr11:63382022-63382031
25	E2F6	chr11:63381886-63382148	K562	blood:	n/a	chr11:63381951-63381960 chr11:63382041-63382053 chr11:63382022-63382031
26	E2F6	chr11:63381613-63382170	K562	blood:	n/a	chr11:63381951-63381960 chr11:63382041-63382053 chr11:63382022-63382031
27	E2F6	chr11:63381163-63382297	A549	lung:	n/a	chr11:63381951-63381960 chr11:63382041-63382053 chr11:63382022-63382031
28	E2F6	chr11:63380914-63382294	H1-hESC	embryonic stem cell:	n/a	chr11:63381951-63381960 chr11:63382041-63382053 chr11:63382022-63382031
29	EBF1	chr11:63381699-63381769	GM12878	blood:	n/a	chr11:63381704-63381715
30	EGR1	chr11:63381756-63382004	K562	blood:	n/a	chr11:63381915-63381925
31	EGR1	chr11:63381680-63382126	K562	blood:	n/a	chr11:63381915-63381925 chr11:63382023-63382036
32	ELF1	chr11:63381565-63382039	K562	blood:	n/a	chr11:63381954-63381963 chr11:63382027-63382039 chr11:63381997-63382009 chr11:63381983-63381995 chr11:63381913-63381925
33	ELF1	chr11:63381599-63382055	K562	blood:	n/a	chr11:63381954-63381963 chr11:63382027-63382039 chr11:63381997-63382009 chr11:63381983-63381995 chr11:63381913-63381925
34	ELF1	chr11:63380932-63382318	GM12878	blood:	n/a	chr11:63381954-63381963 chr11:63382027-63382039 chr11:63381997-63382009 chr11:63381983-63381995 chr11:63381913-63381925
35	ELK1	chr11:63381772-63381963	Hela-S3	cervix:	n/a	n/a
36	EP300	chr11:63381584-63381851	SK-N-SH_RA	brain:	n/a	chr11:63381714-63381730
37	EP300	chr11:63381576-63382035	K562	blood:	n/a	chr11:63381714-63381730 chr11:63381954-63381963
38	EP300	chr11:63381618-63381976	A549	lung:	n/a	chr11:63381714-63381730 chr11:63381954-63381963
39	ETS1	chr11:63381687-63381989	K562	blood:	n/a	n/a
40	FOXA1	chr11:63381789-63382162	T-47D	breast:	n/a	n/a
41	GABPA	chr11:63381706-63382190	H1-hESC	embryonic stem cell:	n/a	chr11:63382022-63382031
42	GABPA	chr11:63381691-63381978	H1-hESC	embryonic stem cell:	n/a	n/a
43	GABPA	chr11:63381660-63381945	K562	blood:	n/a	n/a
44	GABPA	chr11:63381855-63382150	A549	lung:	n/a	chr11:63382022-63382031
45	GATA1	chr11:63381521-63382111	PBDE	blood:	n/a	n/a
46	GATA1	chr11:63381265-63382360	K562	blood:	n/a	n/a
47	GATA2	chr11:63381688-63381976	K562	blood:	n/a	n/a
48	GATA3	chr11:63381564-63382036	T-47D	breast:	n/a	n/a
49	GATA3	chr11:63381570-63382079	T-47D	breast:	n/a	n/a
50	GTF2F1	chr11:63381782-63382210	Hela-S3	cervix:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:63382067-63382117	K562	blood:	n/a
2	chr11:63381845-63381895	HCPEpiC	choroid plexus:	n/a
3	chr11:63382095-63382145	BJ	skin:	n/a
4	chr11:63381728-63381778	Caco-2	colon:	n/a
5	chr11:63382085-63382135	AoSMC	blood vessel:	n/a
6	chr11:63381845-63381895	HepG2	liver:	n/a
7	chr11:63381825-63381875	HRCEpiC	kidney:	n/a
8	chr11:63382085-63382135	HRCEpiC	kidney:	n/a
9	chr11:63382095-63382145	AG04449	skin:	fetal
10	chr11:63382047-63382097	NT2-D1	testis:	n/a
11	chr11:63382047-63382097	HNPCEpiC	eye:	n/a
12	chr11:63381845-63381895	HEK293	kidney:	embryo
13	chr11:63381845-63381895	HCM	heart:	n/a
14	chr11:63381728-63381778	HPAEpiC	pulmonary alveolar:	n/a
15	chr11:63382095-63382145	LNCaP	prostate:	n/a
16	chr11:63382065-63382115	RPTEC	kidney:	n/a
17	chr11:63381825-63381875	GM12878	blood:	n/a
18	chr11:63382047-63382097	GM19239	blood:	n/a
19	chr11:63382085-63382135	HCPEpiC	choroid plexus:	n/a
20	chr11:63382067-63382117	BE2_C	brain:	n/a
21	chr11:63382067-63382117	NHBE	bronchial:	n/a
22	chr11:63382065-63382115	NB4	blood:	n/a
23	chr11:63382065-63382115	HPAEpiC	pulmonary alveolar:	n/a
24	chr11:63382067-63382117	PFSK-1	brain:	n/a
25	chr11:63382095-63382145	HNPCEpiC	eye:	n/a
26	chr11:63381728-63381778	T-47D	breast:	n/a
27	chr11:63381728-63381778	GM12878	blood:	n/a
28	chr11:63382065-63382115	HCM	heart:	n/a
29	chr11:63382065-63382115	K562	blood:	n/a
30	chr11:63383359-63383409	PrEC	prostate:	n/a
31	chr11:63382095-63382145	NT2-D1	testis:	n/a
32	chr11:63382067-63382117	AG09309	skin:	n/a
33	chr11:63381845-63381895	HEEpiC	esophagus:	n/a
34	chr11:63382065-63382115	Hepatocyte	liver:	n/a
35	chr11:63381728-63381778	A549	lung:	n/a
36	chr11:63381825-63381875	Hela-S3	cervix:	n/a
37	chr11:63382095-63382145	HepG2	liver:	n/a
38	chr11:63382085-63382135	ovcar-3	ovarian:	n/a
39	chr11:63382095-63382145	NB4	blood:	n/a
40	chr11:63382047-63382097	IMR90	lung:	fetal
41	chr11:63383359-63383409	AG04449	skin:	fetal
42	chr11:63382085-63382135	PrEC	prostate:	n/a
43	chr11:63382047-63382097	LNCaP	prostate:	n/a
44	chr11:63382047-63382097	RPTEC	kidney:	n/a
45	chr11:63382047-63382097	GM06990	blood:	n/a
46	chr11:63381825-63381875	PANC-1	pancreas:	n/a
47	chr11:63382065-63382115	Jurkat	blood:	n/a
48	chr11:63382085-63382135	SKMC	muscle:	n/a
49	chr11:63381728-63381778	Jurkat	blood:	n/a
50	chr11:63381825-63381875	AG04449	skin:	fetal

No.	Distal block	Cell Line	Cell type
1	chr11:63381325..63382017-chr2:85788347..85788975,2	Hela-S3	cervix:
2	chr11:63381388..63381916-chr6:26158068..26158889,2	Hela-S3	cervix:
3	chr11:63374913..63376548-chr11:63380673..63383197,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RTN3-2	chr11:63383780-63383884	ENSG00000203520.3

Variant related genes	Relation type
ENSG00000203520	TF binding region
PLA2G16	TF binding region
ENSG00000203520	CpG island
PLA2G16	CpG island
ENSG00000176485	chromatin interactions
ENSG00000115486	chromatin interactions
ENSG00000118640	chromatin interactions
ENSG00000158373	chromatin interactions

Extended variants
information (count: 149 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530132540	chr11:63381742-63381743	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs570150147	chr11:63381754-63381755	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs538828117	chr11:63381756-63381757	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs552807167	chr11:63381767-63381768	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs566335892	chr11:63381818-63381819	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs571261289	chr11:63381826-63381827	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs2030730	chr11:63381847-63381848	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs386754290	chr11:63381876-63381877	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs3809073	chr11:63381877-63381878	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs34785126	chr11:63381920-63381921	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs537066103	chr11:63381939-63381940	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs35941673	chr11:63381941-63381942	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs556755395	chr11:63381950-63381951	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs3809072	chr11:63381976-63381977	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs7482863	chr11:63382002-63382003	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs2030729	chr11:63382023-63382024	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs560440210	chr11:63382028-63382029	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs553191897	chr11:63382041-63382042	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs35902999	chr11:63382060-63382061	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs541697676	chr11:63382068-63382069	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs12277033	chr11:63382073-63382074	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs149254878	chr11:63382081-63382082	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs376205228	chr11:63382095-63382096	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs147354386	chr11:63382101-63382102	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs182578761	chr11:63382128-63382129	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs75668261	chr11:63382178-63382179	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs552752297	chr11:63382183-63382184	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs12277154	chr11:63382273-63382274	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs535266955	chr11:63382323-63382324	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs548866611	chr11:63382348-63382349	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs61929728	chr11:63382379-63382380	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs184226069	chr11:63382443-63382444	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs201341757	chr11:63382487-63382488	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs201453395	chr11:63382497-63382498	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs188774762	chr11:63382502-63382503	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs12788514	chr11:63382514-63382515	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
37	rs12790599	chr11:63382518-63382519	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs12788519	chr11:63382524-63382525	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs558693502	chr11:63382528-63382529	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs370237849	chr11:63382533-63382534	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs60261478	chr11:63382536-63382537	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs58783552	chr11:63382538-63382539	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs12788529	chr11:63382540-63382541	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs190726046	chr11:63382548-63382549	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs59188094	chr11:63382552-63382553	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs12790625	chr11:63382554-63382555	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs77800024	chr11:63382558-63382559	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs71462327	chr11:63382563-63382564	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs188481457	chr11:63382568-63382569	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs12788681	chr11:63382570-63382571	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	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	20409316	CNVD
Spinal muscular atrophy	17160897	CNVD
Retinitis pigmentosa	17160897	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:221 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63378400-63382400	Active TSS	Brain Angular Gyrus	brain
2	chr11:63378400-63382400	Active TSS	Ovary	ovary
3	chr11:63379000-63382400	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr11:63379000-63382400	Active TSS	Brain Substantia Nigra	brain
5	chr11:63379400-63382200	Active TSS	Brain Cingulate Gyrus	brain
6	chr11:63379400-63382400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr11:63380000-63382200	Active TSS	Brain Anterior Caudate	brain
8	chr11:63380000-63382400	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr11:63380200-63382200	Active TSS	H1 Cell Line	embryonic stem cell
10	chr11:63380200-63382200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:63380200-63382400	Active TSS	Brain Hippocampus Middle	brain
12	chr11:63380200-63382400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:63380400-63381800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
14	chr11:63380400-63382000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr11:63380400-63382200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:63380400-63382400	Active TSS	H9 Cell Line	embryonic stem cell
17	chr11:63380400-63382400	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr11:63380400-63382400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr11:63380400-63382400	Active TSS	Aorta	Aorta
20	chr11:63380400-63382400	Active TSS	Duodenum Mucosa	Duodenum
21	chr11:63380400-63382400	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr11:63380400-63382400	Active TSS	Left Ventricle	heart
23	chr11:63380400-63382400	Active TSS	Right Atrium	heart
24	chr11:63380400-63382400	Active TSS	HSMM	muscle
25	chr11:63380400-63382400	Active TSS	HSMMtube	muscle
26	chr11:63380400-63382400	Active TSS	NHLF	lung
27	chr11:63380600-63382000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:63380600-63382200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:63380600-63382200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
30	chr11:63380600-63382200	Active TSS	Adipose Nuclei	Adipose
31	chr11:63380600-63382200	Active TSS	Lung	lung
32	chr11:63380600-63382200	Active TSS	Rectal Smooth Muscle	rectum
33	chr11:63380600-63382400	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr11:63380600-63382400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
35	chr11:63380600-63382400	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr11:63380600-63382400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
37	chr11:63380600-63382400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:63380600-63382400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr11:63380600-63382400	Active TSS	Colon Smooth Muscle	Colon
40	chr11:63380600-63382400	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr11:63380600-63382400	Active TSS	Pancreas	Pancrea
42	chr11:63380600-63382400	Active TSS	Psoas Muscle	Psoas
43	chr11:63380600-63382400	Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr11:63380600-63382400	Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr11:63380600-63382400	Active TSS	Stomach Smooth Muscle	stomach
46	chr11:63380600-63382400	Active TSS	A549	lung
47	chr11:63380600-63382400	Active TSS	Osteobl	bone
48	chr11:63380800-63382200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr11:63380800-63382200	Active TSS	Fetal Kidney	kidney
50	chr11:63381000-63381800	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links