Variant report

Variant	esv3401549
Chromosome Location	chr11:72310710-72313204
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:58)
CpG islands
(count:61)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:58 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:72310940-72311090	GM12875	blood:	n/a	n/a
2	CTCF	chr11:72310940-72311090	HCT-116	colon:	n/a	n/a
3	CTCF	chr11:72309585-72311360	A549	lung:	n/a	chr11:72310140-72310156 chr11:72310139-72310157 chr11:72309760-72309767 chr11:72310141-72310162 chr11:72310142-72310155
4	CTCF	chr11:72310910-72311035	MCF-7	breast:	n/a	n/a
5	CTCF	chr11:72310880-72311030	HCT-116	colon:	n/a	n/a
6	CTCF	chr11:72310980-72311130	GM12864	blood:	n/a	n/a
7	CTCF	chr11:72310933-72311073	K562	blood:	n/a	n/a
8	CTCF	chr11:72310934-72311062	MCF-7	breast:	n/a	n/a
9	CTCF	chr11:72310920-72311070	GM12864	blood:	n/a	n/a
10	CTCF	chr11:72311020-72311170	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr11:72310900-72311050	HBMEC	blood vessel:	n/a	n/a
12	CTCF	chr11:72311120-72311270	HCT-116	colon:	n/a	n/a
13	CTCF	chr11:72310898-72311076	GM12892	blood:	n/a	n/a
14	CTCF	chr11:72310971-72310999	GM19240	blood:	n/a	n/a
15	CTCF	chr11:72310907-72311019	MCF-7	breast:	n/a	n/a
16	CTCF	chr11:72310900-72311050	A549	lung:	n/a	n/a
17	CTCF	chr11:72310909-72311035	GM12891	blood:	n/a	n/a
18	CTCF	chr11:72310860-72311010	MCF-7	breast:	n/a	n/a
19	CTCF	chr11:72310900-72311050	WERI-Rb-1	eye:	n/a	n/a
20	CTCF	chr11:72310920-72311070	WERI-Rb-1	eye:	n/a	n/a
21	CTCF	chr11:72310840-72310990	GM12871	blood:	n/a	n/a
22	CTCF	chr11:72310993-72311079	GM12878	blood:	n/a	n/a
23	CTCF	chr11:72310940-72311090	SAEC	small airway:	n/a	n/a
24	CTCF	chr11:72310900-72311050	AG09309	skin:	n/a	n/a
25	CTCF	chr11:72310922-72311067	MCF-7	breast:	n/a	n/a
26	CTCF	chr11:72310906-72311089	K562	blood:	n/a	n/a
27	CTCF	chr11:72310900-72311050	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr11:72310951-72311082	HepG2	liver:	n/a	n/a
29	CTCF	chr11:72310883-72311070	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr11:72310900-72311050	Caco-2	colon:	n/a	n/a
31	CTCF	chr11:72310850-72311083	HepG2	liver:	n/a	n/a
32	CTCF	chr11:72310938-72311032	GM19238	blood:	n/a	n/a
33	CTCF	chr11:72310920-72311070	GM06990	blood:	n/a	n/a
34	CTCF	chr11:72310860-72311010	GM06990	blood:	n/a	n/a
35	CTCF	chr11:72310960-72311110	HepG2	liver:	n/a	n/a
36	CTCF	chr11:72310960-72311110	MCF-7	breast:	n/a	n/a
37	CTCF	chr11:72310900-72311050	BE2_C	brain:	n/a	n/a
38	CTCF	chr11:72310880-72311030	K562	blood:	n/a	n/a
39	CTCF	chr11:72310910-72311042	NHEK	skin:	n/a	n/a
40	CTCF	chr11:72310940-72311090	HEK293	kidney:	n/a	n/a
41	CTCF	chr11:72311000-72311150	HepG2	liver:	n/a	n/a
42	CTCF	chr11:72310877-72311056	MCF-7	breast:	n/a	n/a
43	CTCF	chr11:72310910-72311061	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr11:72310860-72311010	GM12868	blood:	n/a	n/a
45	ELF1	chr11:72313166-72313643	MCF-7	breast:	n/a	n/a
46	FOSL2	chr11:72310212-72310799	A549	lung:	n/a	chr11:72310555-72310565 chr11:72310555-72310565 chr11:72310556-72310565 chr11:72310554-72310566 chr11:72310555-72310565 chr11:72310555-72310565
47	GATA3	chr11:72313107-72313716	MCF-7	breast:	n/a	chr11:72313419-72313429 chr11:72313418-72313430 chr11:72313420-72313429 chr11:72313420-72313427 chr11:72313419-72313427
48	GATA3	chr11:72312989-72313890	MCF-7	breast:	n/a	chr11:72313419-72313429 chr11:72313418-72313430 chr11:72313420-72313429 chr11:72313420-72313427 chr11:72313419-72313427
49	HDAC2	chr11:72313095-72313760	MCF-7	breast:	n/a	chr11:72313419-72313428
50	NR2F2	chr11:72313160-72313926	MCF-7	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:72312062-72312112	SK-N-SH	brain:	n/a
2	chr11:72312062-72312112	GM12878	blood:	n/a
3	chr11:72312062-72312112	HEK293	kidney:	embryo
4	chr11:72312062-72312112	AG09309	skin:	n/a
5	chr11:72312062-72312112	HL-60	blood:	n/a
6	chr11:72312062-72312112	NH-A	brain:	n/a
7	chr11:72312062-72312112	Jurkat	blood:	n/a
8	chr11:72312062-72312112	ovcar-3	ovarian:	n/a
9	chr11:72312062-72312112	PrEC	prostate:	n/a
10	chr11:72312062-72312112	AG09319	gingival:	n/a
11	chr11:72312062-72312112	HAEpiC	amniotic membrane:	n/a
12	chr11:72312062-72312112	BE2_C	brain:	n/a
13	chr11:72312062-72312112	Hepatocyte	liver:	n/a
14	chr11:72312062-72312112	AG04449	skin:	fetal
15	chr11:72312062-72312112	RPTEC	kidney:	n/a
16	chr11:72312062-72312112	Caco-2	colon:	n/a
17	chr11:72312062-72312112	AoSMC	blood vessel:	n/a
18	chr11:72312062-72312112	CMK	blood:	n/a
19	chr11:72312062-72312112	HRE	kidney:	n/a
20	chr11:72312062-72312112	NHBE	bronchial:	n/a
21	chr11:72312062-72312112	NB4	blood:	n/a
22	chr11:72312062-72312112	H1-hESC	embryonic stem cell:	embryo
23	chr11:72312062-72312112	U87	brain:	n/a
24	chr11:72312062-72312112	MCF-7	breast:	n/a
25	chr11:72312062-72312112	GM06990	blood:	n/a
26	chr11:72312062-72312112	HCF	heart:	n/a
27	chr11:72312062-72312112	SK-N-SH_RA	brain:	n/a
28	chr11:72312062-72312112	NT2-D1	testis:	n/a
29	chr11:72312062-72312112	IMR90	lung:	fetal
30	chr11:72312062-72312112	SK-N-MC	brain:	n/a
31	chr11:72312062-72312112	HCM	heart:	n/a
32	chr11:72312062-72312112	SKMC	muscle:	n/a
33	chr11:72312062-72312112	ProgFib	skin:	n/a
34	chr11:72312062-72312112	ECC-1	luminal epithelium:	n/a
35	chr11:72312062-72312112	HCT-116	colon:	n/a
36	chr11:72312062-72312112	AG10803	skin:	n/a
37	chr11:72312062-72312112	HRPEpiC	eye:	n/a
38	chr11:72312062-72312112	MCF10A-Er-Src	breast:	n/a
39	chr11:72312062-72312112	HNPCEpiC	eye:	n/a
40	chr11:72312062-72312112	PANC-1	pancreas:	n/a
41	chr11:72312062-72312112	T-47D	breast:	n/a
42	chr11:72312062-72312112	GM12892	blood:	n/a
43	chr11:72312062-72312112	LNCaP	prostate:	n/a
44	chr11:72312062-72312112	A549	lung:	n/a
45	chr11:72312062-72312112	GM12891	blood:	n/a
46	chr11:72312062-72312112	HepG2	liver:	n/a
47	chr11:72312062-72312112	NHDF-neo	bronchial:	n/a
48	chr11:72312062-72312112	HPAEpiC	pulmonary alveolar:	n/a
49	chr11:72312062-72312112	K562	blood:	n/a
50	chr11:72312062-72312112	HIPEpiC	eye:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:72313089..72314978-chr11:72334364..72335937,2	K562	blood:
2	chr11:72310303..72312102-chr11:72363033..72365890,2	MCF-7	breast:
3	chr11:72307077..72309343-chr11:72312749..72315321,2	K562	blood:
4	chr11:72309672..72310907-chr11:72353574..72354733,7	K562	blood:
5	chr11:72310686..72313140-chr11:72320651..72322680,2	K562	blood:
6	chr11:72310603..72311371-chr11:72394905..72395850,2	MCF-7	breast:
7	chr11:72310660..72312266-chr11:72342413..72344790,2	MCF-7	breast:
8	chr11:72311450..72313060-chr11:72334269..72335781,2	K562	blood:
9	chr11:72309579..72311274-chr11:72353556..72354810,14	MCF-7	breast:
10	chr11:72309197..72311837-chr11:72341889..72344712,2	K562	blood:

No data

Variant related genes	Relation type
PDE2A	TF binding region
PDE2A	CpG island
ENSG00000186642	chromatin interactions
ENSG00000255808	chromatin interactions

Extended variants
information (count: 106 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190121114	chr11:72310728-72310729	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs561498525	chr11:72310755-72310756	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs529074023	chr11:72310812-72310813	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs370832929	chr11:72310814-72310815	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs115525924	chr11:72310881-72310882	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs559056410	chr11:72310884-72310885	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs73542596	chr11:72310885-72310886	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs551403185	chr11:72310892-72310893	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs181619954	chr11:72310893-72310894	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs187473209	chr11:72310914-72310915	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs550212588	chr11:72310923-72310924	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs150112122	chr11:72310928-72310929	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs568442519	chr11:72310963-72310964	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs536074337	chr11:72310995-72310996	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs394903	chr11:72311001-72311002	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs190740022	chr11:72311005-72311006	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs539437763	chr11:72311007-72311008	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs182216231	chr11:72311022-72311023	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs549658178	chr11:72311036-72311037	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs535731737	chr11:72311066-72311067	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs77402958	chr11:72311118-72311119	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs543673228	chr11:72311176-72311177	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs555255869	chr11:72311205-72311206	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs573485866	chr11:72311232-72311233	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs540854722	chr11:72311240-72311241	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs559020200	chr11:72311253-72311254	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs147119818	chr11:72311264-72311265	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs74504637	chr11:72311316-72311317	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs56204271	chr11:72311324-72311325	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs561556874	chr11:72311355-72311356	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs530446732	chr11:72311487-72311488	Enhancers Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550418793	chr11:72311495-72311496	Enhancers Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138518962	chr11:72311496-72311497	Enhancers Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529504015	chr11:72311540-72311541	Enhancers Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550804046	chr11:72311555-72311556	Enhancers Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185067673	chr11:72311684-72311685	Bivalent Enhancer Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568090886	chr11:72311685-72311686	Bivalent Enhancer Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566284841	chr11:72311687-72311688	Bivalent Enhancer Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543371138	chr11:72311722-72311723	Bivalent Enhancer Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551605829	chr11:72311775-72311776	Bivalent Enhancer Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs58303751	chr11:72311782-72311783	Bivalent Enhancer Enhancers Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs375069225	chr11:72311784-72311785	Bivalent Enhancer Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573645209	chr11:72311803-72311804	Bivalent Enhancer Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528122958	chr11:72311804-72311805	Bivalent Enhancer Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539599813	chr11:72311892-72311893	Bivalent Enhancer Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370385292	chr11:72311931-72311932	Bivalent Enhancer Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369782573	chr11:72311975-72311976	Bivalent Enhancer Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534500436	chr11:72312044-72312045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552710430	chr11:72312062-72312063	Enhancers Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
50	rs546555377	chr11:72312064-72312065	Enhancers Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chordoma	21602918	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Multiple myeloma	16616336	CNVD
Urothelial cell carcinoma	18451213	CNVD
Leukoplakia	24403051	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	19153074	CNVD
Acute myeloid leukemia	21251322	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72303600-72313600	Weak transcription	Brain Hippocampus Middle	brain
2	chr11:72304600-72316600	Weak transcription	Left Ventricle	heart
3	chr11:72305800-72310800	Weak transcription	Brain Angular Gyrus	brain
4	chr11:72306400-72315200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr11:72306800-72311000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:72308400-72312200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:72310000-72310800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr11:72310000-72311200	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr11:72310200-72310800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
10	chr11:72310200-72310800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:72310200-72311000	Enhancers	Hela-S3	cervix
12	chr11:72310200-72311000	Enhancers	HSMM	muscle
13	chr11:72310200-72311000	Enhancers	HSMMtube	muscle
14	chr11:72310200-72311200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr11:72310200-72311600	Enhancers	Brain Anterior Caudate	brain
16	chr11:72310200-72312000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr11:72310200-72312200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:72310400-72310800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:72310400-72310800	Bivalent Enhancer	Adipose Nuclei	Adipose
20	chr11:72310400-72311000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
21	chr11:72310400-72311600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr11:72310400-72312000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
23	chr11:72310400-72312000	Enhancers	A549	lung
24	chr11:72310400-72312400	Weak transcription	Colon Smooth Muscle	Colon
25	chr11:72310400-72312800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr11:72310400-72316800	Weak transcription	Colonic Mucosa	Colon
27	chr11:72310600-72311400	Strong transcription	Fetal Brain Female	brain
28	chr11:72310600-72312000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:72310600-72312000	Genic enhancers	Spleen	Spleen
30	chr11:72310600-72316000	Weak transcription	Right Ventricle	heart
31	chr11:72310800-72311000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
32	chr11:72310800-72311000	Enhancers	Esophagus	oesophagus
33	chr11:72310800-72311000	Bivalent Enhancer	NH-A	brain
34	chr11:72310800-72311200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr11:72310800-72311200	Enhancers	Brain Angular Gyrus	brain
36	chr11:72311000-72311200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
37	chr11:72311000-72311400	Flanking Active TSS	Hela-S3	cervix
38	chr11:72311000-72311400	Weak transcription	HSMMtube	muscle
39	chr11:72311000-72311600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr11:72311000-72311600	Weak transcription	HSMM	muscle
41	chr11:72311000-72312200	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr11:72311000-72313600	Weak transcription	Stomach Smooth Muscle	stomach
43	chr11:72311000-72316600	Weak transcription	Esophagus	oesophagus
44	chr11:72311200-72311400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr11:72311200-72312000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr11:72311200-72312000	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr11:72311200-72313600	Weak transcription	Brain Angular Gyrus	brain
48	chr11:72311200-72314400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr11:72311200-72316000	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr11:72311400-72311600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links