Variant report

Variant	esv3403234
Chromosome Location	chr2:54681448-54686246
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:472)
CpG islands
(count:794)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:472 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:54681591-54682242	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:54682853-54683244	HepG2	liver:	n/a	n/a
3	BACH1	chr2:54684594-54684782	H1-hESC	embryonic stem cell:	n/a	n/a
4	CCNT2	chr2:54683964-54684145	K562	blood:	n/a	n/a
5	CEBPD	chr2:54683063-54683574	HepG2	liver:	n/a	n/a
6	CEBPD	chr2:54682962-54683723	HepG2	liver:	n/a	n/a
7	CEBPD	chr2:54684733-54685172	HepG2	liver:	n/a	n/a
8	CEBPD	chr2:54682136-54682461	HepG2	liver:	n/a	n/a
9	CHD1	chr2:54684601-54685201	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD1	chr2:54683216-54683297	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD1	chr2:54682304-54682437	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD2	chr2:54684923-54685079	HepG2	liver:	n/a	n/a
13	CHD2	chr2:54684712-54684928	Hela-S3	cervix:	n/a	n/a
14	CHD2	chr2:54682407-54682567	HepG2	liver:	n/a	n/a
15	CHD2	chr2:54682957-54683837	HepG2	liver:	n/a	chr2:54683732-54683742 chr2:54683071-54683081
16	CREB1	chr2:54683022-54683535	H1-hESC	embryonic stem cell:	n/a	n/a
17	CREB1	chr2:54682979-54684118	A549	lung:	n/a	n/a
18	CTBP2	chr2:54682379-54685140	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr2:54681721-54681859	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr2:54683020-54683170	HCFaa	heart:	n/a	n/a
21	CTCF	chr2:54682920-54683070	HCM	heart:	n/a	n/a
22	CTCF	chr2:54682180-54682330	HRE	kidney:	n/a	n/a
23	CTCF	chr2:54682940-54683090	HBMEC	blood vessel:	n/a	n/a
24	CTCF	chr2:54685120-54685270	HepG2	liver:	n/a	n/a
25	CTCF	chr2:54683360-54683510	AG04449	skin:	n/a	n/a
26	CTCF	chr2:54683020-54683170	AG10803	skin:	n/a	n/a
27	CTCF	chr2:54683740-54683890	GM12868	blood:	n/a	chr2:54683799-54683812
28	CTCF	chr2:54681760-54681910	HCPEpiC	choroid plexus:	n/a	n/a
29	CTCF	chr2:54683899-54683997	MCF-7	breast:	n/a	n/a
30	CTCF	chr2:54684880-54685030	HEK293	kidney:	n/a	n/a
31	CTCF	chr2:54682900-54683050	SK-N-SH_RA	brain:	n/a	n/a
32	CTCF	chr2:54683440-54683590	SK-N-SH_RA	brain:	n/a	chr2:54683520-54683530 chr2:54683546-54683559
33	CTCF	chr2:54684946-54685072	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr2:54682260-54682410	HPF	lung:	n/a	n/a
35	CTCF	chr2:54682740-54682890	HRE	kidney:	n/a	n/a
36	CTCF	chr2:54681720-54681870	AG09319	gingival:	n/a	n/a
37	CTCF	chr2:54684980-54685066	MCF-7	breast:	n/a	n/a
38	CTCF	chr2:54683180-54683330	SAEC	small airway:	n/a	n/a
39	CTCF	chr2:54684920-54685070	WERI-Rb-1	eye:	n/a	n/a
40	CTCF	chr2:54683420-54683570	SK-N-SH_RA	brain:	n/a	chr2:54683520-54683530 chr2:54683546-54683559
41	CTCF	chr2:54682900-54683050	BJ	skin:	n/a	n/a
42	CTCF	chr2:54681778-54681830	K562	blood:	n/a	n/a
43	CTCF	chr2:54683840-54683990	WERI-Rb-1	eye:	n/a	n/a
44	CTCF	chr2:54685000-54685150	AG04450	lung:	n/a	n/a
45	CTCF	chr2:54683020-54683170	AG09319	gingival:	n/a	n/a
46	CTCF	chr2:54683760-54683910	GM12875	blood:	n/a	chr2:54683799-54683812
47	CTCF	chr2:54681793-54681822	LNCaP	prostate:	n/a	n/a
48	CTCF	chr2:54681720-54681870	HMEC	breast:	n/a	n/a
49	CTCF	chr2:54683000-54683150	AoAF	blood vessel:	n/a	n/a
50	CTCF	chr2:54684340-54684490	HBMEC	blood vessel:	n/a	n/a

(count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:54682530-54682580	HL-60	blood:	n/a
2	chr2:54682530-54682580	HL-60	blood:	n/a
3	chr2:54681906-54681956	SAEC	small airway:	n/a
4	chr2:54684134-54684184	Hepatocyte	liver:	n/a
5	chr2:54683322-54683372	Hepatocyte	liver:	n/a
6	chr2:54682387-54682437	HRCEpiC	kidney:	n/a
7	chr2:54682970-54683020	SK-N-SH_RA	brain:	n/a
8	chr2:54682530-54682580	RPTEC	kidney:	n/a
9	chr2:54684134-54684184	SK-N-MC	brain:	n/a
10	chr2:54682758-54682808	SK-N-SH_RA	brain:	n/a
11	chr2:54682387-54682437	HRE	kidney:	n/a
12	chr2:54682859-54682909	NH-A	brain:	n/a
13	chr2:54682970-54683020	ovcar-3	ovarian:	n/a
14	chr2:54681906-54681956	GM12892	blood:	n/a
15	chr2:54684134-54684184	NHDF-neo	bronchial:	n/a
16	chr2:54682530-54682580	CMK	blood:	n/a
17	chr2:54683707-54683757	PrEC	prostate:	n/a
18	chr2:54685010-54685060	Jurkat	blood:	n/a
19	chr2:54682859-54682909	Caco-2	colon:	n/a
20	chr2:54684134-54684184	PrEC	prostate:	n/a
21	chr2:54683707-54683757	BE2_C	brain:	n/a
22	chr2:54683502-54683552	NHBE	bronchial:	n/a
23	chr2:54682859-54682909	PANC-1	pancreas:	n/a
24	chr2:54685010-54685060	SKMC	muscle:	n/a
25	chr2:54683502-54683552	MCF10A-Er-Src	breast:	n/a
26	chr2:54683502-54683552	GM19239	blood:	n/a
27	chr2:54681906-54681956	GM12878	blood:	n/a
28	chr2:54682970-54683020	HepG2	liver:	n/a
29	chr2:54684134-54684184	AG10803	skin:	n/a
30	chr2:54683707-54683757	SKMC	muscle:	n/a
31	chr2:54683502-54683552	HNPCEpiC	eye:	n/a
32	chr2:54682530-54682580	HMEC	breast:	n/a
33	chr2:54683048-54683098	HIPEpiC	eye:	n/a
34	chr2:54682387-54682437	GM12891	blood:	n/a
35	chr2:54682758-54682808	ECC-1	luminal epithelium:	n/a
36	chr2:54682859-54682909	HUVEC	blood vessel:	n/a
37	chr2:54685010-54685060	U87	brain:	n/a
38	chr2:54683707-54683757	ECC-1	luminal epithelium:	n/a
39	chr2:54685010-54685060	Hela-S3	cervix:	n/a
40	chr2:54685010-54685060	K562	blood:	n/a
41	chr2:54684134-54684184	NH-A	brain:	n/a
42	chr2:54682758-54682808	Jurkat	blood:	n/a
43	chr2:54682758-54682808	HCPEpiC	choroid plexus:	n/a
44	chr2:54683502-54683552	RPTEC	kidney:	n/a
45	chr2:54683322-54683372	Jurkat	blood:	n/a
46	chr2:54681906-54681956	AoSMC	blood vessel:	n/a
47	chr2:54681906-54681956	HNPCEpiC	eye:	n/a
48	chr2:54683404-54683454	T-47D	breast:	n/a
49	chr2:54682859-54682909	BJ	skin:	n/a
50	chr2:54682758-54682808	HMEC	breast:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:54341520..54343821-chr2:54682367..54684141,3	MCF-7	breast:
2	chr2:54683448..54684022-chr7:127291404..127292021,2	HCT-116	colon:
3	chr2:54663282..54665058-chr2:54681463..54683178,2	MCF-7	breast:

No data

Variant related genes	Relation type
SPTBN1	TF binding region
SPTBN1	CpG island
ENSG00000170634	chromatin interactions

Extended variants
information (count: 177 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:177 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539166599	chr2:54681450-54681451	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs75900188	chr2:54681481-54681482	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs79310289	chr2:54681506-54681507	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs552898035	chr2:54681556-54681557	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs572784033	chr2:54681567-54681568	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs542486191	chr2:54681656-54681657	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs555832807	chr2:54681657-54681658	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs113935743	chr2:54681711-54681712	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs75432070	chr2:54681722-54681723	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs143518012	chr2:54681768-54681769	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs566396469	chr2:54681795-54681796	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs111892277	chr2:54681830-54681831	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs373040207	chr2:54681861-54681862	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs540408607	chr2:54681890-54681891	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs141603418	chr2:54681909-54681910	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
16	rs150093348	chr2:54681933-54681934	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
17	rs548457523	chr2:54682092-54682093	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs561791324	chr2:54682114-54682115	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs547589365	chr2:54682155-54682156	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs530715176	chr2:54682162-54682163	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs183066023	chr2:54682203-54682204	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs570325643	chr2:54682209-54682210	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs138626112	chr2:54682222-54682223	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs142929253	chr2:54682237-54682238	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs566459390	chr2:54682249-54682250	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs371115271	chr2:54682290-54682291	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs535143840	chr2:54682306-54682307	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs555346392	chr2:54682325-54682326	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs73932829	chr2:54682329-54682330	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs538555197	chr2:54682334-54682335	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs375684855	chr2:54682352-54682353	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs112888674	chr2:54682403-54682404	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs578232413	chr2:54682415-54682416	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs536737520	chr2:54682500-54682501	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs535388209	chr2:54682533-54682534	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs147398913	chr2:54682550-54682551	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs560425719	chr2:54682630-54682631	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs574086827	chr2:54682632-54682633	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs542605882	chr2:54682634-54682635	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs371951242	chr2:54682646-54682647	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs559401892	chr2:54682649-54682650	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs530680613	chr2:54682673-54682674	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs139707367	chr2:54682731-54682732	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs78694117	chr2:54682734-54682735	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs370819104	chr2:54682737-54682738	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs546665571	chr2:54682758-54682759	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs566398973	chr2:54682773-54682774	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs72804673	chr2:54682787-54682788	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs186866692	chr2:54682796-54682797	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs72804674	chr2:54682941-54682942	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:626 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54668600-54682000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:54675400-54681800	Weak transcription	HSMMtube	muscle
3	chr2:54677600-54682200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:54678400-54681600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:54678400-54681800	Weak transcription	Brain Angular Gyrus	brain
6	chr2:54678600-54681600	Weak transcription	Brain Anterior Caudate	brain
7	chr2:54678600-54681600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr2:54678600-54682200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:54681000-54681800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr2:54681000-54682000	Weak transcription	Fetal Muscle Leg	muscle
11	chr2:54681200-54681600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr2:54681200-54681600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:54681200-54681600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:54681200-54681800	Enhancers	A549	lung
15	chr2:54681200-54682000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr2:54681200-54682200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:54681200-54682200	Enhancers	Liver	Liver
18	chr2:54681400-54681600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr2:54681400-54681800	Flanking Active TSS	HepG2	liver
20	chr2:54681400-54682000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
21	chr2:54681400-54682000	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr2:54681400-54682200	Enhancers	Brain Hippocampus Middle	brain
23	chr2:54681600-54681800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:54681600-54681800	Enhancers	Brain Anterior Caudate	brain
25	chr2:54681600-54681800	Enhancers	Fetal Lung	lung
26	chr2:54681600-54682000	Enhancers	H1 Cell Line	embryonic stem cell
27	chr2:54681600-54682000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
28	chr2:54681600-54682000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
29	chr2:54681600-54682000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:54681600-54682000	Enhancers	Adipose Nuclei	Adipose
31	chr2:54681600-54682200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr2:54681600-54682200	Enhancers	Primary hematopoietic stem cells	blood
33	chr2:54681600-54682200	Enhancers	Brain Cingulate Gyrus	brain
34	chr2:54681600-54682200	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr2:54681600-54682200	Enhancers	Fetal Heart	heart
36	chr2:54681600-54682800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
37	chr2:54681800-54682000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr2:54681800-54682000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:54681800-54682000	Enhancers	Brain Substantia Nigra	brain
40	chr2:54681800-54682000	Flanking Active TSS	Fetal Lung	lung
41	chr2:54681800-54682000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr2:54681800-54682000	Flanking Active TSS	A549	lung
43	chr2:54681800-54682200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
44	chr2:54681800-54682200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr2:54681800-54682200	Enhancers	Brain Angular Gyrus	brain
46	chr2:54681800-54682200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr2:54681800-54682200	Enhancers	Fetal Brain Male	brain
48	chr2:54681800-54682200	Bivalent Enhancer	Fetal Intestine Small	intestine
49	chr2:54681800-54682200	Enhancers	Fetal Kidney	kidney
50	chr2:54681800-54682200	Active TSS	HepG2	liver

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