Variant report

Variant	esv3397435
Chromosome Location	chr11:66884601-66887149
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	ARID3A	chr11:66886519-66886690	HepG2	liver:	n/a	n/a
2	ATF1	chr11:66886428-66886747	K562	blood:	n/a	n/a
3	ATF3	chr11:66886451-66886642	K562	blood:	n/a	chr11:66886558-66886567
4	BACH1	chr11:66885141-66886766	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCLAF1	chr11:66886432-66886808	GM12878	blood:	n/a	chr11:66886721-66886729
6	BCLAF1	chr11:66886934-66887719	GM12878	blood:	n/a	chr11:66887150-66887163
7	BHLHE40	chr11:66886076-66886938	GM12878	blood:	n/a	chr11:66886386-66886402
8	BHLHE40	chr11:66886327-66886773	K562	blood:	n/a	chr11:66886386-66886402
9	BRCA1	chr11:66886482-66886740	Hela-S3	cervix:	n/a	n/a
10	CCNT2	chr11:66886279-66887780	K562	blood:	n/a	chr11:66886684-66886693 chr11:66886310-66886319 chr11:66886652-66886661 chr11:66887530-66887539
11	CEBPB	chr11:66884737-66884941	HepG2	liver:	n/a	chr11:66884840-66884851
12	CEBPB	chr11:66886534-66886800	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr11:66884839-66884884	Hela-S3	cervix:	n/a	chr11:66884840-66884851
14	CEBPD	chr11:66886341-66886751	HepG2	liver:	n/a	n/a
15	CHD1	chr11:66886091-66886187	GM12878	blood:	n/a	n/a
16	CHD1	chr11:66886631-66887341	GM12878	blood:	n/a	n/a
17	CHD1	chr11:66886861-66886931	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD1	chr11:66885996-66886157	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD2	chr11:66886093-66886960	Hela-S3	cervix:	n/a	chr11:66886392-66886402
20	CHD2	chr11:66886752-66886919	HepG2	liver:	n/a	n/a
21	CHD2	chr11:66886031-66886946	GM12878	blood:	n/a	chr11:66886392-66886402
22	CHD2	chr11:66886330-66886849	K562	blood:	n/a	chr11:66886392-66886402
23	CHD2	chr11:66886040-66886288	H1-hESC	embryonic stem cell:	n/a	n/a
24	CHD2	chr11:66886367-66886494	HepG2	liver:	n/a	chr11:66886392-66886402
25	CHD2	chr11:66886544-66886639	H1-hESC	embryonic stem cell:	n/a	n/a
26	CREB1	chr11:66886441-66886727	ECC-1	luminal epithelium:	n/a	n/a
27	CREB1	chr11:66886224-66886943	A549	lung:	n/a	n/a
28	CREB1	chr11:66886161-66886988	GM12878	blood:	n/a	n/a
29	CREB1	chr11:66886173-66886971	K562	blood:	n/a	n/a
30	CREB1	chr11:66886131-66886806	H1-hESC	embryonic stem cell:	n/a	n/a
31	CREB1	chr11:66886172-66886870	H1-hESC	embryonic stem cell:	n/a	n/a
32	CREB1	chr11:66886436-66886688	A549	lung:	n/a	n/a
33	CREB1	chr11:66886144-66887060	HepG2	liver:	n/a	n/a
34	CTCF	chr11:66887060-66887210	NHEK	skin:	n/a	chr11:66887164-66887182 chr11:66887170-66887179
35	CTCF	chr11:66886420-66886570	Caco-2	colon:	n/a	n/a
36	CTCF	chr11:66887140-66887290	Hela-S3	cervix:	n/a	chr11:66887164-66887182 chr11:66887170-66887179
37	CTCF	chr11:66887080-66887230	GM12874	blood:	n/a	chr11:66887164-66887182 chr11:66887170-66887179
38	CTCF	chr11:66886407-66886613	GM19240	blood:	n/a	n/a
39	CTCF	chr11:66886880-66887485	K562	blood:	n/a	chr11:66887164-66887182 chr11:66887170-66887179
40	CTCF	chr11:66886474-66886621	Medullo	brain:	n/a	n/a
41	CTCF	chr11:66887080-66887230	AG04450	lung:	n/a	chr11:66887164-66887182 chr11:66887170-66887179
42	CTCF	chr11:66887128-66887251	A549	lung:	n/a	chr11:66887164-66887182 chr11:66887170-66887179
43	CTCF	chr11:66887103-66887272	MCF-7	breast:	n/a	chr11:66887164-66887182 chr11:66887170-66887179
44	CTCF	chr11:66886346-66886799	K562	blood:	n/a	n/a
45	CTCF	chr11:66887138-66887259	GM12891	blood:	n/a	chr11:66887164-66887182 chr11:66887170-66887179
46	CTCF	chr11:66887085-66887265	Pancreas_OC	pancreas:	n/a	chr11:66887164-66887182 chr11:66887170-66887179
47	CTCF	chr11:66887060-66887210	HPF	lung:	n/a	chr11:66887164-66887182 chr11:66887170-66887179
48	CTCF	chr11:66886430-66886607	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr11:66887116-66887241	SK-N-SH_RA	brain:	n/a	chr11:66887164-66887182 chr11:66887170-66887179
50	CTCF	chr11:66886415-66886646	Spleen_OC	spleen:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:66885281-66885331	LNCaP	prostate:	n/a
2	chr11:66885276-66885326	AG04450	lung:	fetal
3	chr11:66886253-66886303	Jurkat	blood:	n/a
4	chr11:66886765-66886815	Jurkat	blood:	n/a
5	chr11:66885276-66885326	AG04449	skin:	fetal
6	chr11:66886918-66886968	HRCEpiC	kidney:	n/a
7	chr11:66886748-66886798	A549	lung:	n/a
8	chr11:66885276-66885326	HepG2	liver:	n/a
9	chr11:66885281-66885331	A549	lung:	n/a
10	chr11:66885276-66885326	T-47D	breast:	n/a
11	chr11:66885240-66885290	HRE	kidney:	n/a
12	chr11:66886918-66886968	HNPCEpiC	eye:	n/a
13	chr11:66885240-66885290	HL-60	blood:	n/a
14	chr11:66886118-66886168	RPTEC	kidney:	n/a
15	chr11:66885240-66885290	HEK293	kidney:	embryo
16	chr11:66885281-66885331	HCF	heart:	n/a
17	chr11:66886918-66886968	HEEpiC	esophagus:	n/a
18	chr11:66886141-66886191	A549	lung:	n/a
19	chr11:66886918-66886968	SK-N-SH	brain:	n/a
20	chr11:66886141-66886191	K562	blood:	n/a
21	chr11:66885276-66885326	AG09309	skin:	n/a
22	chr11:66886141-66886191	HUVEC	blood vessel:	n/a
23	chr11:66886765-66886815	HCPEpiC	choroid plexus:	n/a
24	chr11:66886141-66886191	ProgFib	skin:	n/a
25	chr11:66886118-66886168	HEEpiC	esophagus:	n/a
26	chr11:66885281-66885331	U87	brain:	n/a
27	chr11:66886253-66886303	MCF10A-Er-Src	breast:	n/a
28	chr11:66886765-66886815	AG04449	skin:	fetal
29	chr11:66886748-66886798	Hepatocyte	liver:	n/a
30	chr11:66886253-66886303	ECC-1	luminal epithelium:	n/a
31	chr11:66886141-66886191	CMK	blood:	n/a
32	chr11:66886253-66886303	NH-A	brain:	n/a
33	chr11:66886253-66886303	Hela-S3	cervix:	n/a
34	chr11:66886141-66886191	AG09319	gingival:	n/a
35	chr11:66885276-66885326	NT2-D1	testis:	n/a
36	chr11:66886918-66886968	NHBE	bronchial:	n/a
37	chr11:66885276-66885326	HCT-116	colon:	n/a
38	chr11:66885281-66885331	GM19239	blood:	n/a
39	chr11:66886918-66886968	HIPEpiC	eye:	n/a
40	chr11:66886253-66886303	LNCaP	prostate:	n/a
41	chr11:66885281-66885331	HCM	heart:	n/a
42	chr11:66885240-66885290	HIPEpiC	eye:	n/a
43	chr11:66886765-66886815	SK-N-SH_RA	brain:	n/a
44	chr11:66885281-66885331	PANC-1	pancreas:	n/a
45	chr11:66886748-66886798	MCF10A-Er-Src	breast:	n/a
46	chr11:66886765-66886815	T-47D	breast:	n/a
47	chr11:66885281-66885331	H1-hESC	embryonic stem cell:	embryo
48	chr11:66886748-66886798	SK-N-MC	brain:	n/a
49	chr11:66885240-66885290	NH-A	brain:	n/a
50	chr11:66885276-66885326	BJ	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:66884756..66886465-chr11:66946415..66948664,2	MCF-7	breast:
2	chr11:66886604..66887153-chr17:19551576..19552186,2	NB4	blood:
3	chr11:66864238..66866456-chr11:66880720..66884624,3	MCF-7	breast:
4	chr11:66885158..66886682-chr11:67030764..67032501,2	K562	blood:
5	chr11:66821404..66826403-chr11:66884710..66889541,16	MCF-7	breast:
6	chr11:66821625..66825972-chr11:66885437..66888104,7	MCF-7	breast:
7	chr11:66847793..66850553-chr11:66883657..66886437,2	MCF-7	breast:
8	chr11:66885002..66889173-chr11:67005085..67009324,11	K562	blood:
9	chr11:66886660..66888352-chr11:67075399..67077454,2	K562	blood:
10	chr11:66885940..66887950-chr11:67395860..67397869,2	K562	blood:
11	chr11:66883623..66889678-chr11:67005085..67009894,16	K562	blood:
12	chr11:66885437..66888305-chr11:67055921..67058495,2	MCF-7	breast:
13	chr11:66884916..66890908-chr11:67005112..67010354,8	MCF-7	breast:
14	chr11:66884866..66886450-chr11:67007040..67008886,2	MCF-7	breast:
15	chr11:66886805..66888356-chr20:52209357..52211197,2	MCF-7	breast:

Variant related genes	Relation type
KDM2A	TF binding region
KDM2A	CpG island
ENSG00000172932	chromatin interactions
ENSG00000172830	chromatin interactions
ENSG00000167799	chromatin interactions
ENSG00000173156	chromatin interactions
ENSG00000072210	chromatin interactions
ENSG00000171940	chromatin interactions
ENSG00000173120	chromatin interactions

Extended variants
information (count: 47 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141486662	chr11:66884608-66884609	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs535699170	chr11:66884613-66884614	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs553771326	chr11:66884655-66884656	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs572349771	chr11:66884656-66884657	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs376456722	chr11:66884657-66884658	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs529945954	chr11:66884671-66884672	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs546194781	chr11:66884676-66884677	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs375017454	chr11:66884742-66884743	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs74485778	chr11:66884782-66884783	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs376645095	chr11:66884845-66884846	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs563617507	chr11:66884850-66884851	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs543958778	chr11:66884865-66884866	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs562264963	chr11:66884894-66884895	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs368620489	chr11:66884948-66884949	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs575373982	chr11:66884958-66884959	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs75081047	chr11:66885054-66885055	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs541652387	chr11:66885055-66885056	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs559793769	chr11:66885101-66885102	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs191331286	chr11:66885129-66885130	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs372880436	chr11:66885133-66885134	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs551868931	chr11:66885179-66885180	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs117266031	chr11:66885182-66885183	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs117538255	chr11:66885213-66885214	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs567564483	chr11:66885384-66885385	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs549473350	chr11:66885395-66885396	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs568187797	chr11:66885475-66885476	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs7109019	chr11:66885479-66885480	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs535286795	chr11:66885533-66885534	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs553959111	chr11:66885558-66885559	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs565818514	chr11:66885613-66885614	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs4072610	chr11:66885659-66885660	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs150722876	chr11:66885730-66885731	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs113643152	chr11:66885897-66885898	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs558158260	chr11:66885959-66885960	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs376237870	chr11:66886024-66886025	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs537503648	chr11:66886034-66886035	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs139077511	chr11:66886067-66886068	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs12284546	chr11:66886145-66886146	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs541244650	chr11:66886610-66886611	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs528690290	chr11:66886659-66886660	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs577881403	chr11:66886734-66886735	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs545299614	chr11:66886772-66886773	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs563697375	chr11:66886782-66886783	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs531197131	chr11:66886784-66886785	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs549793548	chr11:66886815-66886816	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs561604401	chr11:66887067-66887068	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs529015990	chr11:66887068-66887069	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
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
Acute myeloid leukemia	21251322	CNVD
Lung cancer	19153074	CNVD
Schizophrenia	21346763	CNVD
lymphocytic leukemia	21291569	CNVD

Chromatin state (count:404 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66879000-66885200	Weak transcription	Right Ventricle	heart
2	chr11:66879200-66885000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr11:66879200-66885000	Weak transcription	Right Atrium	heart
4	chr11:66879200-66885200	Weak transcription	Left Ventricle	heart
5	chr11:66879400-66884800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr11:66879400-66884800	Weak transcription	Adipose Nuclei	Adipose
7	chr11:66879400-66885000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr11:66879600-66884800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:66879600-66884800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr11:66879600-66884800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr11:66879600-66885000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr11:66880400-66885000	Enhancers	Fetal Intestine Small	intestine
13	chr11:66880600-66885000	Enhancers	Fetal Intestine Large	intestine
14	chr11:66881000-66886800	Weak transcription	K562	blood
15	chr11:66881200-66884800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr11:66881200-66884800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:66881200-66885000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:66881200-66885000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr11:66881200-66885000	Weak transcription	Esophagus	oesophagus
20	chr11:66881200-66885200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:66881200-66885200	Weak transcription	Dnd41	blood
22	chr11:66881400-66885000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:66881600-66884800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr11:66881800-66884800	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr11:66881800-66885000	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr11:66882000-66885000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:66882200-66885000	Weak transcription	Colonic Mucosa	Colon
28	chr11:66882600-66884800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:66882600-66885200	Enhancers	A549	lung
30	chr11:66882800-66885000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:66882800-66885000	Enhancers	Stomach Mucosa	stomach
32	chr11:66883000-66884800	Weak transcription	Liver	Liver
33	chr11:66883200-66885000	Weak transcription	Primary B cells from peripheral blood	blood
34	chr11:66883400-66884800	Weak transcription	Primary hematopoietic stem cells	blood
35	chr11:66883400-66885000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr11:66883600-66884800	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr11:66883600-66884800	Weak transcription	Duodenum Mucosa	Duodenum
38	chr11:66883600-66884800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr11:66883600-66885000	Enhancers	Brain Hippocampus Middle	brain
40	chr11:66883600-66885000	Enhancers	Fetal Lung	lung
41	chr11:66883600-66885000	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr11:66883600-66885000	Weak transcription	GM12878-XiMat	blood
43	chr11:66883600-66885200	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr11:66883600-66886000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr11:66883800-66884800	Weak transcription	Primary B cells from cord blood	blood
46	chr11:66883800-66884800	Weak transcription	Brain Anterior Caudate	brain
47	chr11:66883800-66884800	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr11:66883800-66885000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr11:66884000-66885200	Enhancers	Fetal Stomach	stomach
50	chr11:66884200-66884800	Enhancers	H9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links