Variant report

Variant	esv3365228
Chromosome Location	chr21:45580724-45582772
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:78)
CpG islands
(count:366)
Chromatin interactive
region (count:7)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:78 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr21:45580888-45581303	GM12878	blood:	n/a	n/a
2	BCL3	chr21:45580780-45581190	GM12878	blood:	n/a	n/a
3	BCLAF1	chr21:45580710-45581257	GM12878	blood:	n/a	n/a
4	BHLHE40	chr21:45580665-45581165	GM12878	blood:	n/a	n/a
5	CHD1	chr21:45580836-45581123	GM12878	blood:	n/a	n/a
6	CHD2	chr21:45578588-45581136	GM12878	blood:	n/a	n/a
7	CTCF	chr21:45580881-45580989	GM19239	blood:	n/a	n/a
8	CUX1	chr21:45580907-45581365	GM12878	blood:	n/a	n/a
9	E2F6	chr21:45582289-45582425	K562	blood:	n/a	n/a
10	EBF1	chr21:45580546-45581436	GM12878	blood:	n/a	chr21:45581234-45581247 chr21:45581235-45581245 chr21:45581236-45581245 chr21:45580762-45580772
11	EBF1	chr21:45579140-45581393	GM12878	blood:	n/a	chr21:45581234-45581247 chr21:45581235-45581245 chr21:45581236-45581245 chr21:45580762-45580772
12	EBF1	chr21:45580679-45581387	GM12878	blood:	n/a	chr21:45581234-45581247 chr21:45581235-45581245 chr21:45581236-45581245 chr21:45580762-45580772
13	ELF1	chr21:45579133-45581040	GM12878	blood:	n/a	n/a
14	HMGN3	chr21:45580888-45580987	K562	blood:	n/a	n/a
15	MAX	chr21:45581477-45581771	K562	blood:	n/a	n/a
16	MAX	chr21:45580601-45581236	ECC-1	luminal epithelium:	n/a	n/a
17	MAX	chr21:45582193-45582510	K562	blood:	n/a	chr21:45582368-45582378 chr21:45582374-45582384 chr21:45582368-45582379 chr21:45582367-45582380 chr21:45582360-45582376 chr21:45582368-45582379 chr21:45582368-45582379 chr21:45582367-45582380 chr21:45582369-45582378 chr21:45582368-45582378
18	MAX	chr21:45578697-45581235	GM12878	blood:	n/a	n/a
19	MAX	chr21:45581556-45581732	K562	blood:	n/a	n/a
20	MAX	chr21:45581202-45581408	K562	blood:	n/a	n/a
21	MAZ	chr21:45580510-45581275	GM12878	blood:	n/a	n/a
22	MTA3	chr21:45578504-45581427	GM12878	blood:	n/a	n/a
23	MTA3	chr21:45579576-45581093	GM12878	blood:	n/a	n/a
24	MXI1	chr21:45580789-45581253	GM12878	blood:	n/a	n/a
25	NFIC	chr21:45580609-45581149	ECC-1	luminal epithelium:	n/a	n/a
26	NFIC	chr21:45580766-45581272	GM12878	blood:	n/a	n/a
27	NRF1	chr21:45580983-45581291	GM12878	blood:	n/a	chr21:45581001-45581010
28	PAX5	chr21:45580785-45581124	GM12878	blood:	n/a	n/a
29	PAX5	chr21:45580656-45581197	GM12878	blood:	n/a	n/a
30	PML	chr21:45580555-45581338	GM12878	blood:	n/a	n/a
31	POLR2A	chr21:45578673-45581415	GM12891	blood:	n/a	n/a
32	POLR2A	chr21:45582101-45582685	GM12878	blood:	n/a	n/a
33	POLR2A	chr21:45578462-45581396	GM12892	blood:	n/a	n/a
34	POLR2A	chr21:45578782-45581098	GM10847	blood:	n/a	n/a
35	POLR2A	chr21:45578629-45581133	GM18526	blood:	n/a	n/a
36	POLR2A	chr21:45578683-45581388	GM19193	blood:	n/a	n/a
37	POLR2A	chr21:45578637-45581350	GM12878	blood:	n/a	n/a
38	POLR2A	chr21:45572928-45581556	GM12878	blood:	n/a	n/a
39	POLR2A	chr21:45576498-45581335	GM12891	blood:	n/a	n/a
40	POLR2A	chr21:45578547-45581170	HL-60	blood:	n/a	n/a
41	POLR2A	chr21:45579515-45581045	GM12891	blood:	n/a	n/a
42	POLR2A	chr21:45578579-45581303	HL-60	blood:	n/a	n/a
43	POLR2A	chr21:45581498-45581714	GM12878	blood:	n/a	n/a
44	POLR2A	chr21:45578510-45581471	GM12878	blood:	n/a	n/a
45	POLR2A	chr21:45578519-45581150	GM12892	blood:	n/a	n/a
46	POLR2A	chr21:45581625-45581912	GM12878	blood:	n/a	n/a
47	POLR2A	chr21:45578463-45581426	GM12892	blood:	n/a	n/a
48	POLR2A	chr21:45582334-45582593	GM12878	blood:	n/a	n/a
49	POLR2A	chr21:45578654-45581250	GM19099	blood:	n/a	n/a
50	POLR2A	chr21:45579422-45581288	GM12892	blood:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:45581608-45581658	SAEC	small airway:	n/a
2	chr21:45581608-45581658	NB4	blood:	n/a
3	chr21:45581008-45581058	HNPCEpiC	eye:	n/a
4	chr21:45581008-45581058	U87	brain:	n/a
5	chr21:45581608-45581658	HCPEpiC	choroid plexus:	n/a
6	chr21:45581710-45581760	Jurkat	blood:	n/a
7	chr21:45581541-45581591	NHDF-neo	bronchial:	n/a
8	chr21:45582448-45582498	H1-hESC	embryonic stem cell:	embryo
9	chr21:45581541-45581591	SAEC	small airway:	n/a
10	chr21:45581541-45581591	GM12891	blood:	n/a
11	chr21:45581541-45581591	CMK	blood:	n/a
12	chr21:45581541-45581591	ovcar-3	ovarian:	n/a
13	chr21:45581541-45581591	NT2-D1	testis:	n/a
14	chr21:45582448-45582498	HCF	heart:	n/a
15	chr21:45581008-45581058	BE2_C	brain:	n/a
16	chr21:45582497-45582547	SAEC	small airway:	n/a
17	chr21:45581008-45581058	MCF10A-Er-Src	breast:	n/a
18	chr21:45581541-45581591	HCT-116	colon:	n/a
19	chr21:45581541-45581591	PFSK-1	brain:	n/a
20	chr21:45581710-45581760	RPTEC	kidney:	n/a
21	chr21:45581008-45581058	Hela-S3	cervix:	n/a
22	chr21:45582448-45582498	NHBE	bronchial:	n/a
23	chr21:45581710-45581760	SKMC	muscle:	n/a
24	chr21:45581008-45581058	ProgFib	skin:	n/a
25	chr21:45581710-45581760	NHDF-neo	bronchial:	n/a
26	chr21:45582448-45582498	Hela-S3	cervix:	n/a
27	chr21:45582448-45582498	NT2-D1	testis:	n/a
28	chr21:45582448-45582498	PANC-1	pancreas:	n/a
29	chr21:45581541-45581591	HCF	heart:	n/a
30	chr21:45582497-45582547	GM12892	blood:	n/a
31	chr21:45582448-45582498	Caco-2	colon:	n/a
32	chr21:45581541-45581591	GM19239	blood:	n/a
33	chr21:45581008-45581058	RPTEC	kidney:	n/a
34	chr21:45581710-45581760	HEK293	kidney:	embryo
35	chr21:45581541-45581591	GM12892	blood:	n/a
36	chr21:45582497-45582547	HRE	kidney:	n/a
37	chr21:45582497-45582547	NHDF-neo	bronchial:	n/a
38	chr21:45581608-45581658	H1-hESC	embryonic stem cell:	embryo
39	chr21:45582497-45582547	ovcar-3	ovarian:	n/a
40	chr21:45581541-45581591	H1-hESC	embryonic stem cell:	embryo
41	chr21:45581541-45581591	SK-N-MC	brain:	n/a
42	chr21:45581008-45581058	HCPEpiC	choroid plexus:	n/a
43	chr21:45582497-45582547	SKMC	muscle:	n/a
44	chr21:45582497-45582547	AG10803	skin:	n/a
45	chr21:45581008-45581058	SK-N-MC	brain:	n/a
46	chr21:45581541-45581591	MCF10A-Er-Src	breast:	n/a
47	chr21:45581541-45581591	NB4	blood:	n/a
48	chr21:45581608-45581658	HRCEpiC	kidney:	n/a
49	chr21:45582448-45582498	HRE	kidney:	n/a
50	chr21:45582448-45582498	GM12878	blood:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45580740..45582853-chr21:45588250..45590805,3	MCF-7	breast:
2	chr21:45581288..45584070-chr21:45586807..45588482,3	MCF-7	breast:
3	chr21:45580625..45582180-chr21:45622469..45623971,2	MCF-7	breast:
4	chr21:45553046..45554600-chr21:45582651..45585521,2	K562	blood:
5	chr21:45551834..45580791-chr21:45711953..45732193,97	MCF-7	breast:
6	chr21:45581401..45583188-chr21:45662253..45664319,2	MCF-7	breast:
7	chr21:45576170..45578304-chr21:45582737..45584575,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C21orf33-4	chr21:45582739-45583008	NONHSAT082484
2	lnc-C21orf33-4	chr21:45581050-45581158	NONHSAT082484

No data

Variant related genes	Relation type
ENSG00000225331	TF binding region
ENSG00000225331	CpG island
ENSG00000141959	chromatin interactions
ENSG00000160221	chromatin interactions

Extended variants
information (count: 99 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374384644	chr21:45580759-45580760	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs557016590	chr21:45580803-45580804	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs561000760	chr21:45580804-45580805	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs528308360	chr21:45580834-45580835	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs112512370	chr21:45580838-45580839	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs542324443	chr21:45580842-45580843	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs554713496	chr21:45580877-45580878	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs185390713	chr21:45580878-45580879	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs540904871	chr21:45580940-45580941	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs540018728	chr21:45580961-45580962	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs189446225	chr21:45580965-45580966	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs532531998	chr21:45581002-45581003	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs544229996	chr21:45581028-45581029	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
14	rs562908015	chr21:45581049-45581050	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs117213173	chr21:45581080-45581081	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs140113002	chr21:45581093-45581094	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs143822987	chr21:45581142-45581143	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs561043960	chr21:45581178-45581179	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs528331637	chr21:45581223-45581224	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs111320270	chr21:45581232-45581233	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs546867020	chr21:45581258-45581259	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs571499040	chr21:45581284-45581285	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs538928083	chr21:45581290-45581291	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs550267736	chr21:45581313-45581314	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs532030787	chr21:45581332-45581333	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs368424925	chr21:45581350-45581351	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs182042777	chr21:45581376-45581377	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs371839750	chr21:45581385-45581386	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs554277958	chr21:45581413-45581414	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs573091183	chr21:45581419-45581420	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs534173947	chr21:45581457-45581458	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs559106663	chr21:45581458-45581459	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs36089849	chr21:45581478-45581479	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs577422391	chr21:45581551-45581552	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
35	rs113913914	chr21:45581636-45581637	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
36	rs13052635	chr21:45581648-45581649	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
37	rs186455826	chr21:45581649-45581650	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
38	rs36037856	chr21:45581687-45581688	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs180977124	chr21:45581729-45581730	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
40	rs574916398	chr21:45581748-45581749	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
41	rs542329865	chr21:45581751-45581752	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
42	rs11432942	chr21:45581789-45581790	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs376138692	chr21:45581795-45581796	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs560612693	chr21:45581833-45581834	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs528289923	chr21:45581878-45581879	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs11909177	chr21:45581890-45581891	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs549673027	chr21:45581946-45581947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs12627273	chr21:45581986-45581987	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs532272957	chr21:45581996-45581997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142998750	chr21:45582017-45582018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Ewing''s sarcoma	21437220	CNVD
Lung adenocarcinoma	17086460	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute myeloid leukemia	21358987	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	23341502	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Cholangiocarcinoma	16830362	CNVD
Down syndrome	17334655	CNVD
Neuroticism	17667963	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Autoimmune polyendocrine syndrome	18200029	CNVD
Prostate cancer	19363497	CNVD
Lung cancer	17086460	CNVD
Olfactory neuroblastoma	18408657	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Multiple myeloma	16616336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
small cell lung cancer	17426248	CNVD
Ependymoma	20639864	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:190 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45561000-45584400	Weak transcription	Aorta	Aorta
2	chr21:45571000-45582600	Weak transcription	Ovary	ovary
3	chr21:45575400-45583400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr21:45575400-45586000	Weak transcription	Fetal Lung	lung
5	chr21:45575400-45592000	Weak transcription	Fetal Brain Female	brain
6	chr21:45575600-45584800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr21:45576600-45581200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr21:45577200-45581000	Flanking Active TSS	Primary B cells from peripheral blood	blood
9	chr21:45577600-45581400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr21:45578800-45581400	Flanking Active TSS	GM12878-XiMat	blood
11	chr21:45579000-45580800	Enhancers	HUVEC	blood vessel
12	chr21:45579000-45581000	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr21:45579000-45581200	Enhancers	Lung	lung
14	chr21:45579200-45580800	Enhancers	Fetal Intestine Small	intestine
15	chr21:45579200-45580800	Enhancers	Stomach Mucosa	stomach
16	chr21:45579200-45581000	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr21:45579200-45581200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr21:45579400-45580800	Enhancers	Gastric	stomach
19	chr21:45579400-45581000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr21:45579400-45581000	Enhancers	Pancreas	Pancrea
21	chr21:45579400-45581200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr21:45579400-45581400	Enhancers	Esophagus	oesophagus
23	chr21:45579600-45580800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
24	chr21:45579600-45580800	Enhancers	Right Ventricle	heart
25	chr21:45579600-45581200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
26	chr21:45579800-45581000	Enhancers	Right Atrium	heart
27	chr21:45579800-45581000	Enhancers	Spleen	Spleen
28	chr21:45579800-45581200	Enhancers	Primary T cells from cord blood	blood
29	chr21:45579800-45581400	Enhancers	Brain Anterior Caudate	brain
30	chr21:45579800-45581600	Enhancers	Placenta	Placenta
31	chr21:45579800-45583000	Enhancers	Fetal Muscle Leg	muscle
32	chr21:45579800-45590400	Weak transcription	Colon Smooth Muscle	Colon
33	chr21:45579800-45590400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr21:45580000-45591200	Weak transcription	Fetal Heart	heart
35	chr21:45580200-45580800	Flanking Active TSS	Brain Substantia Nigra	brain
36	chr21:45580200-45580800	Enhancers	NHLF	lung
37	chr21:45580200-45581000	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr21:45580200-45581000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr21:45580200-45581000	Flanking Active TSS	Brain Hippocampus Middle	brain
40	chr21:45580200-45581200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr21:45580200-45581200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr21:45580200-45581200	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr21:45580200-45581200	Enhancers	Duodenum Mucosa	Duodenum
44	chr21:45580200-45581200	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr21:45580200-45581400	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr21:45580200-45581400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr21:45580200-45581400	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr21:45580200-45581400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr21:45580200-45581400	Enhancers	Fetal Thymus	thymus
50	chr21:45580200-45581400	Enhancers	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links