Variant report

Variant	esv3325041
Chromosome Location	chr1:222790354-222793202
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:511)
CpG islands
(count:794)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:511 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:222790964-222791191	HepG2	liver:	n/a	n/a
2	BACH1	chr1:222790484-222791170	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr1:222790702-222791647	GM12878	blood:	n/a	chr1:222791397-222791413
4	BHLHE40	chr1:222791983-222791997	K562	blood:	n/a	n/a
5	BHLHE40	chr1:222790736-222791616	K562	blood:	n/a	chr1:222791397-222791413
6	BRCA1	chr1:222790854-222791072	GM12878	blood:	n/a	n/a
7	CBX3	chr1:222790929-222791255	K562	blood:	n/a	n/a
8	CBX3	chr1:222792073-222792763	K562	blood:	n/a	n/a
9	CCNT2	chr1:222792597-222793105	K562	blood:	n/a	n/a
10	CCNT2	chr1:222790869-222792195	K562	blood:	n/a	chr1:222790930-222790939
11	CEBPB	chr1:222792407-222793107	K562	blood:	n/a	n/a
12	CEBPB	chr1:222792372-222792739	HepG2	liver:	n/a	n/a
13	CEBPD	chr1:222791337-222791712	HepG2	liver:	n/a	n/a
14	CHD1	chr1:222790608-222790762	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD1	chr1:222791947-222792170	H1-hESC	embryonic stem cell:	n/a	n/a
16	CHD1	chr1:222791429-222791859	GM12878	blood:	n/a	n/a
17	CHD1	chr1:222790892-222790959	GM12878	blood:	n/a	n/a
18	CHD1	chr1:222791485-222791697	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD2	chr1:222790921-222791899	Hela-S3	cervix:	n/a	n/a
20	CHD2	chr1:222791455-222791601	K562	blood:	n/a	n/a
21	CHD2	chr1:222790835-222791214	GM12878	blood:	n/a	n/a
22	CHD2	chr1:222790848-222791237	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD2	chr1:222790935-222791573	HepG2	liver:	n/a	n/a
24	CHD2	chr1:222790907-222791165	K562	blood:	n/a	n/a
25	CHD2	chr1:222791829-222791966	GM12878	blood:	n/a	n/a
26	CHD2	chr1:222791427-222791596	GM12878	blood:	n/a	n/a
27	CREB1	chr1:222790679-222791728	H1-hESC	embryonic stem cell:	n/a	chr1:222791136-222791149
28	CREB1	chr1:222791361-222791675	H1-hESC	embryonic stem cell:	n/a	n/a
29	CREB1	chr1:222790817-222791759	GM12878	blood:	n/a	chr1:222791136-222791149
30	CREB1	chr1:222791342-222791614	A549	lung:	n/a	n/a
31	CREB1	chr1:222790761-222791267	H1-hESC	embryonic stem cell:	n/a	chr1:222791136-222791149
32	CREB1	chr1:222790743-222791802	HepG2	liver:	n/a	chr1:222791136-222791149
33	CREB1	chr1:222790611-222791274	A549	lung:	n/a	chr1:222791136-222791149
34	CTCF	chr1:222791005-222791059	GM12878	blood:	n/a	n/a
35	CTCF	chr1:222791470-222791562	Lung_OC	lung:	n/a	n/a
36	CTCF	chr1:222790820-222790970	HBMEC	blood vessel:	n/a	n/a
37	CTCF	chr1:222790992-222791059	GM19240	blood:	n/a	n/a
38	CTCF	chr1:222790660-222790810	HCPEpiC	choroid plexus:	n/a	chr1:222790697-222790710
39	CTCF	chr1:222791080-222791230	AG04449	skin:	n/a	n/a
40	CTCF	chr1:222791115-222791142	K562	blood:	n/a	n/a
41	CTCF	chr1:222791476-222791631	Spleen_OC	spleen:	n/a	n/a
42	CTCF	chr1:222791458-222791589	K562	blood:	n/a	n/a
43	E2F4	chr1:222791937-222792194	MCF10A-Er-Src	breast:	n/a	n/a
44	E2F4	chr1:222790993-222791259	MCF10A-Er-Src	breast:	n/a	chr1:222791171-222791181
45	E2F6	chr1:222790807-222792571	K562	blood:	n/a	chr1:222791171-222791181
46	E2F6	chr1:222790860-222791252	K562	blood:	n/a	chr1:222791171-222791181
47	E2F6	chr1:222790728-222791302	A549	lung:	n/a	chr1:222791171-222791181
48	E2F6	chr1:222792285-222792488	K562	blood:	n/a	n/a
49	E2F6	chr1:222791373-222791590	K562	blood:	n/a	n/a
50	E2F6	chr1:222791660-222792098	K562	blood:	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	chr1:222791799-222791849	H1-hESC	embryonic stem cell:	embryo
2	chr1:222791799-222791849	H1-hESC	embryonic stem cell:	embryo
3	chr1:222790952-222791002	K562	blood:	n/a
4	chr1:222791638-222791688	NT2-D1	testis:	n/a
5	chr1:222791619-222791669	GM06990	blood:	n/a
6	chr1:222791172-222791222	NB4	blood:	n/a
7	chr1:222791886-222791936	Caco-2	colon:	n/a
8	chr1:222791514-222791564	SK-N-SH	brain:	n/a
9	chr1:222791799-222791849	CMK	blood:	n/a
10	chr1:222792082-222792132	ProgFib	skin:	n/a
11	chr1:222792554-222792604	PFSK-1	brain:	n/a
12	chr1:222792261-222792311	HAEpiC	amniotic membrane:	n/a
13	chr1:222791886-222791936	GM12892	blood:	n/a
14	chr1:222791172-222791222	SK-N-SH_RA	brain:	n/a
15	chr1:222791638-222791688	SK-N-SH_RA	brain:	n/a
16	chr1:222791170-222791220	H1-hESC	embryonic stem cell:	embryo
17	chr1:222792261-222792311	NHDF-neo	bronchial:	n/a
18	chr1:222791172-222791222	Caco-2	colon:	n/a
19	chr1:222792261-222792311	SK-N-SH	brain:	n/a
20	chr1:222791619-222791669	HAEpiC	amniotic membrane:	n/a
21	chr1:222791051-222791101	PrEC	prostate:	n/a
22	chr1:222791638-222791688	K562	blood:	n/a
23	chr1:222792082-222792132	BJ	skin:	n/a
24	chr1:222791051-222791101	HEK293	kidney:	embryo
25	chr1:222791799-222791849	HCF	heart:	n/a
26	chr1:222790952-222791002	GM06990	blood:	n/a
27	chr1:222792587-222792637	U87	brain:	n/a
28	chr1:222792554-222792604	GM19239	blood:	n/a
29	chr1:222791886-222791936	RPTEC	kidney:	n/a
30	chr1:222792261-222792311	HRCEpiC	kidney:	n/a
31	chr1:222792082-222792132	A549	lung:	n/a
32	chr1:222792261-222792311	HIPEpiC	eye:	n/a
33	chr1:222792554-222792604	ProgFib	skin:	n/a
34	chr1:222791799-222791849	HPAEpiC	pulmonary alveolar:	n/a
35	chr1:222792261-222792311	IMR90	lung:	fetal
36	chr1:222791886-222791936	GM12891	blood:	n/a
37	chr1:222791170-222791220	NHDF-neo	bronchial:	n/a
38	chr1:222791638-222791688	Caco-2	colon:	n/a
39	chr1:222792587-222792637	CMK	blood:	n/a
40	chr1:222792261-222792311	A549	lung:	n/a
41	chr1:222791799-222791849	SKMC	muscle:	n/a
42	chr1:222790952-222791002	Caco-2	colon:	n/a
43	chr1:222791514-222791564	BE2_C	brain:	n/a
44	chr1:222792082-222792132	HCPEpiC	choroid plexus:	n/a
45	chr1:222791799-222791849	HRE	kidney:	n/a
46	chr1:222791886-222791936	HCF	heart:	n/a
47	chr1:222791619-222791669	PFSK-1	brain:	n/a
48	chr1:222791170-222791220	HCM	heart:	n/a
49	chr1:222792082-222792132	HRCEpiC	kidney:	n/a
50	chr1:222791619-222791669	AG09309	skin:	n/a

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:222761959..222766700-chr1:222790061..222794365,7	MCF-7	breast:
2	chr1:222790149..222792584-chr1:222885363..222887404,2	K562	blood:
3	chr1:222790877..222794262-chr1:222817668..222820285,3	MCF-7	breast:
4	chr1:222789107..222793717-chr1:222814287..222819011,10	K562	blood:
5	chr1:222792534..222794480-chr1:222797586..222800158,2	MCF-7	breast:
6	chr1:222774712..222777472-chr1:222791624..222793384,2	MCF-7	breast:
7	chr1:222760723..222765796-chr1:222790714..222795393,9	K562	blood:
8	chr1:222760074..222764679-chr1:222790714..222794830,7	K562	blood:
9	chr1:222789930..222793106-chr1:222884660..222888170,6	K562	blood:
10	chr1:222725040..222727583-chr1:222792195..222794403,2	K562	blood:
11	chr1:222761567..222764879-chr1:222790132..222793494,4	MCF-7	breast:
12	chr1:222639000..222642188-chr1:222791446..222794042,3	MCF-7	breast:
13	chr1:222788934..222792471-chr1:222815936..222819007,5	MCF-7	breast:
14	chr1:222791535..222793360-chr17:57917674..57919496,2	MCF-7	breast:
15	chr1:222788058..222793799-chr1:222815102..222819462,10	K562	blood:
16	chr1:222765298..222768386-chr1:222792125..222794006,3	K562	blood:

No data

Variant related genes	Relation type
MIA3	TF binding region
MIA3	CpG island
ENSG00000225265	chromatin interactions
ENSG00000154305	chromatin interactions
ENSG00000143498	chromatin interactions
ENSG00000186063	chromatin interactions
ENSG00000162819	chromatin interactions
ENSG00000229399	chromatin interactions
ENSG00000199004	chromatin interactions
ENSG00000234419	chromatin interactions

Extended variants
information (count: 98 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs904323	chr1:222790366-222790367	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs186940018	chr1:222790394-222790395	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs139563486	chr1:222790417-222790418	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs572771321	chr1:222790433-222790434	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs540113861	chr1:222790458-222790459	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs904324	chr1:222790465-222790466	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs548901009	chr1:222790495-222790496	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs145103154	chr1:222790500-222790501	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs147619641	chr1:222790518-222790519	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs35397194	chr1:222790521-222790522	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs142155704	chr1:222790560-222790561	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs138895750	chr1:222790588-222790589	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs116679787	chr1:222790612-222790613	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs560792683	chr1:222790632-222790633	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs551179521	chr1:222790655-222790656	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs570607803	chr1:222790685-222790686	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs539150899	chr1:222790714-222790715	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs528022443	chr1:222790739-222790740	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs552993872	chr1:222790812-222790813	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs367706189	chr1:222790824-222790825	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs567902410	chr1:222790845-222790846	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs35778542	chr1:222790944-222790945	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs191670457	chr1:222790948-222790949	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs550412111	chr1:222790988-222790989	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs571749138	chr1:222790989-222790990	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs114519076	chr1:222791000-222791001	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs143201736	chr1:222791072-222791073	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs557359045	chr1:222791104-222791105	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs566115013	chr1:222791192-222791193	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs533874543	chr1:222791208-222791209	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs555239385	chr1:222791211-222791212	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs35628624	chr1:222791222-222791223	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs34289291	chr1:222791245-222791246	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs34940679	chr1:222791256-222791257	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs555627973	chr1:222791342-222791343	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs573758473	chr1:222791385-222791386	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs371880303	chr1:222791413-222791414	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs375818775	chr1:222791418-222791419	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs556399422	chr1:222791428-222791429	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs533228796	chr1:222791435-222791436	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs376169786	chr1:222791440-222791441	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs545499200	chr1:222791461-222791462	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs560508185	chr1:222791466-222791467	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs572466037	chr1:222791555-222791556	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs573900426	chr1:222791600-222791601	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs371054016	chr1:222791614-222791615	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs149481873	chr1:222791619-222791620	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs561585936	chr1:222791629-222791630	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs531824952	chr1:222791633-222791634	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs3008609	chr1:222791646-222791647	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	20808228	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Leukoplakia	24403051	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:627 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222786400-222790600	Weak transcription	Psoas Muscle	Psoas
2	chr1:222787200-222790600	Weak transcription	K562	blood
3	chr1:222787400-222790600	Weak transcription	Duodenum Mucosa	Duodenum
4	chr1:222787600-222790600	Weak transcription	Fetal Intestine Small	intestine
5	chr1:222789000-222790600	Enhancers	Colonic Mucosa	Colon
6	chr1:222789200-222790400	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr1:222789600-222790400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:222789600-222790600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr1:222789800-222790400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:222789800-222790600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:222789800-222790600	Enhancers	HepG2	liver
12	chr1:222789800-222790600	Enhancers	HSMM	muscle
13	chr1:222790000-222790400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr1:222790000-222790400	Enhancers	Brain Anterior Caudate	brain
15	chr1:222790000-222790400	Enhancers	Osteobl	bone
16	chr1:222790000-222790600	Enhancers	Stomach Mucosa	stomach
17	chr1:222790200-222790400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr1:222790200-222790400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr1:222790200-222790400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:222790200-222790400	Enhancers	Adipose Nuclei	Adipose
21	chr1:222790200-222790400	Enhancers	Brain Angular Gyrus	brain
22	chr1:222790200-222790400	Enhancers	Brain Hippocampus Middle	brain
23	chr1:222790200-222790400	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr1:222790200-222790400	Enhancers	Dnd41	blood
25	chr1:222790200-222790600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
26	chr1:222790200-222790600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
27	chr1:222790200-222790600	Enhancers	Muscle Satellite Cultured Cells	--
28	chr1:222790200-222790600	Enhancers	Colon Smooth Muscle	Colon
29	chr1:222790200-222790600	Enhancers	Fetal Intestine Large	intestine
30	chr1:222790200-222790600	Bivalent Enhancer	Fetal Muscle Leg	muscle
31	chr1:222790200-222790600	Enhancers	Fetal Stomach	stomach
32	chr1:222790200-222790600	Bivalent Enhancer	A549	lung
33	chr1:222790200-222790600	Enhancers	NHLF	lung
34	chr1:222790200-222791000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:222790200-222791000	Flanking Active TSS	NHDF-Ad	bronchial
36	chr1:222790200-222791200	Flanking Active TSS	Liver	Liver
37	chr1:222790400-222790600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr1:222790400-222790600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr1:222790400-222790600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
40	chr1:222790400-222790600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr1:222790400-222790600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:222790400-222790600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr1:222790400-222790600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr1:222790400-222790600	Bivalent Enhancer	Primary B cells from cord blood	blood
45	chr1:222790400-222790600	Enhancers	Primary B cells from peripheral blood	blood
46	chr1:222790400-222790600	Enhancers	Primary T cells from cord blood	blood
47	chr1:222790400-222790600	Enhancers	Primary hematopoietic stem cells	blood
48	chr1:222790400-222790600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr1:222790400-222790600	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr1:222790400-222790600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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