Variant report

Variant	nsv587802
Chromosome Location	chr21:45904905-45916560
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:538)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:538 , 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	chr21:45905146-45905376	K562	blood:	n/a	n/a
2	ATF2	chr21:45905039-45905445	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr21:45905026-45905646	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr21:45907735-45908075	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr21:45905222-45905303	K562	blood:	n/a	n/a
6	CBX3	chr21:45912731-45913039	K562	blood:	n/a	n/a
7	CBX3	chr21:45907754-45908026	K562	blood:	n/a	n/a
8	CBX3	chr21:45912695-45913076	K562	blood:	n/a	n/a
9	CEBPB	chr21:45905083-45905402	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr21:45909183-45909375	HepG2	liver:	n/a	n/a
11	CHD1	chr21:45905378-45905917	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD2	chr21:45905031-45905636	H1-hESC	embryonic stem cell:	n/a	n/a
13	CHD2	chr21:45905150-45905344	HepG2	liver:	n/a	n/a
14	CHD2	chr21:45905059-45905361	K562	blood:	n/a	n/a
15	CREB1	chr21:45905268-45905591	A549	lung:	n/a	n/a
16	CTCF	chr21:45907673-45908097	K562	blood:	n/a	n/a
17	CTCF	chr21:45907804-45908009	LNCaP	prostate:	n/a	n/a
18	CTCF	chr21:45909902-45910174	HCT-116	colon:	n/a	n/a
19	CTCF	chr21:45913220-45913370	HepG2	liver:	n/a	n/a
20	CTCF	chr21:45907840-45907990	BE2_C	brain:	n/a	n/a
21	CTCF	chr21:45907800-45907950	HMEC	breast:	n/a	n/a
22	CTCF	chr21:45909960-45910110	GM12872	blood:	n/a	n/a
23	CTCF	chr21:45907820-45907970	HPAF	blood vessel:	n/a	n/a
24	CTCF	chr21:45909940-45910090	HCT-116	colon:	n/a	n/a
25	CTCF	chr21:45907820-45907970	HCM	heart:	n/a	n/a
26	CTCF	chr21:45907820-45907970	SK-N-SH_RA	brain:	n/a	n/a
27	CTCF	chr21:45910040-45910190	WI-38	lung:	n/a	n/a
28	CTCF	chr21:45909857-45910092	K562	blood:	n/a	n/a
29	CTCF	chr21:45907799-45908013	GM19238	blood:	n/a	n/a
30	CTCF	chr21:45909940-45910090	AG09309	skin:	n/a	n/a
31	CTCF	chr21:45907788-45908024	ProgFib	skin:	n/a	n/a
32	CTCF	chr21:45907780-45907930	WI-38	lung:	n/a	n/a
33	CTCF	chr21:45909960-45910110	HPF	lung:	n/a	n/a
34	CTCF	chr21:45910007-45910052	GM12892	blood:	n/a	n/a
35	CTCF	chr21:45909940-45910090	Hela-S3	cervix:	n/a	n/a
36	CTCF	chr21:45909980-45910130	HPAF	blood vessel:	n/a	n/a
37	CTCF	chr21:45907820-45907970	K562	blood:	n/a	n/a
38	CTCF	chr21:45907800-45907950	GM12878	blood:	n/a	n/a
39	CTCF	chr21:45909980-45910130	GM12874	blood:	n/a	n/a
40	CTCF	chr21:45909920-45910070	HRPEpiC	eye:	n/a	n/a
41	CTCF	chr21:45909946-45910139	HepG2	liver:	n/a	n/a
42	CTCF	chr21:45905124-45905292	HUVEC	blood vessel:	n/a	chr21:45905188-45905206 chr21:45905189-45905205
43	CTCF	chr21:45907800-45907950	BE2_C	brain:	n/a	n/a
44	CTCF	chr21:45907820-45907970	AG04449	skin:	n/a	n/a
45	CTCF	chr21:45910020-45910170	HPF	lung:	n/a	n/a
46	CTCF	chr21:45907820-45907970	HRPEpiC	eye:	n/a	n/a
47	CTCF	chr21:45907719-45908082	IMR90	lung:	n/a	n/a
48	CTCF	chr21:45905180-45905330	HPF	lung:	n/a	chr21:45905188-45905206 chr21:45905189-45905205
49	CTCF	chr21:45909865-45910191	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr21:45907787-45908167	HCT-116	colon:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr21:45896261..45898915-chr21:45903489..45905136,2	K562	blood:
2	chr21:45758316..45760568-chr21:45903461..45906076,2	MCF-7	breast:
3	chr21:45914015..45916883-chr21:45919499..45921989,2	MCF-7	breast:
4	chr21:45722675..45723244-chr21:45907390..45907958,2	MCF-7	breast:
5	chr21:45902648..45905236-chr21:45906362..45908752,2	K562	blood:
6	chr21:45759118..45760920-chr21:45902719..45905047,2	MCF-7	breast:
7	chr21:45905060..45907929-chr21:45913527..45915113,2	MCF-7	breast:
8	chr21:45758851..45761192-chr21:45902340..45905536,3	K562	blood:
9	chr21:45898990..45900999-chr21:45903526..45905351,2	MCF-7	breast:
10	chr21:45908563..45910677-chr21:45919182..45922057,2	MCF-7	breast:
11	chr21:45905868..45907578-chr21:46240496..46242148,2	MCF-7	breast:
12	chr21:45913647..45916994-chr21:45919380..45922194,3	MCF-7	breast:
13	chr21:45915032..45916593-chr21:46237742..46239999,2	K562	blood:
14	chr21:45902648..45905236-chr21:45906362..45908752,2	K562	blood:
15	chr21:45914437..45917212-chr21:45927032..45929785,3	K562	blood:
16	chr21:45662446..45664337-chr21:45902333..45904974,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C21orf90-3	chr21:45916399-45916592	NONHSAT082602

No data

Variant related genes	Relation type
ENSG00000228709	TF binding region
ENSG00000184900	chromatin interactions
ENSG00000232969	chromatin interactions
ENSG00000160226	chromatin interactions
ENSG00000228709	chromatin interactions

Extended variants
information (count: 477 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:477 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587641074	chr21:45904942-45904943	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs372475660	chr21:45904955-45904956	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs587725225	chr21:45904972-45904973	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs182706857	chr21:45905007-45905008	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs7279171	chr21:45905139-45905140	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs139916713	chr21:45905167-45905168	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs587714111	chr21:45905171-45905172	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs116298380	chr21:45905186-45905187	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs368250563	chr21:45905198-45905199	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs372481208	chr21:45905201-45905202	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs374480052	chr21:45905208-45905209	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs587665513	chr21:45905235-45905236	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs187653708	chr21:45905252-45905253	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs587619597	chr21:45905307-45905308	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs587711095	chr21:45905322-45905323	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs369917092	chr21:45905330-45905331	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs587729371	chr21:45905335-45905336	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs7277525	chr21:45905342-45905343	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs192885503	chr21:45905357-45905358	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs117815537	chr21:45905364-45905365	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs372319097	chr21:45905367-45905368	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs374716320	chr21:45905377-45905378	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs371269536	chr21:45905432-45905433	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs369291947	chr21:45905442-45905443	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs587692298	chr21:45905449-45905450	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs587766890	chr21:45905458-45905459	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs372850906	chr21:45905497-45905498	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs149726200	chr21:45905498-45905499	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs587719888	chr21:45905514-45905515	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs7277823	chr21:45905517-45905518	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs183130887	chr21:45905527-45905528	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs145609600	chr21:45905539-45905540	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs148472617	chr21:45905547-45905548	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs587657727	chr21:45905551-45905552	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs79239574	chr21:45905559-45905560	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs375021473	chr21:45905569-45905570	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs587597624	chr21:45905570-45905571	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs188612755	chr21:45905581-45905582	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs377176786	chr21:45905584-45905585	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs142710344	chr21:45905600-45905601	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs587647709	chr21:45905616-45905617	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs60289664	chr21:45905650-45905651	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs587680655	chr21:45905675-45905676	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs34702901	chr21:45905773-45905774	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs587760328	chr21:45905807-45905808	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs8130704	chr21:45905872-45905873	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs147654515	chr21:45905882-45905883	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs587747696	chr21:45905905-45905906	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs587614885	chr21:45905919-45905920	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs142346322	chr21:45905922-45905923	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:239 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45881800-45911800	Weak transcription	Right Atrium	heart
2	chr21:45896200-45905400	Weak transcription	Brain Germinal Matrix	brain
3	chr21:45898600-45905600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr21:45898800-45905400	Weak transcription	Fetal Brain Female	brain
5	chr21:45898800-45906200	Weak transcription	Spleen	Spleen
6	chr21:45900800-45905000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr21:45901000-45916000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr21:45902600-45905400	Weak transcription	Fetal Intestine Small	intestine
9	chr21:45903600-45905200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr21:45903800-45905200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr21:45904000-45905000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr21:45904000-45905200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr21:45904600-45905000	Enhancers	Liver	Liver
14	chr21:45904600-45905000	Enhancers	HepG2	liver
15	chr21:45904800-45905000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr21:45905000-45905200	Enhancers	H1 Cell Line	embryonic stem cell
17	chr21:45905000-45905200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr21:45905000-45905200	Enhancers	Primary T cells from cord blood	blood
19	chr21:45905000-45905200	Enhancers	Adipose Nuclei	Adipose
20	chr21:45905000-45905200	Enhancers	Stomach Mucosa	stomach
21	chr21:45905000-45905400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr21:45905000-45905400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr21:45905000-45905400	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr21:45905000-45905600	Flanking Active TSS	HepG2	liver
25	chr21:45905000-45905800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr21:45905000-45905800	Flanking Active TSS	Liver	Liver
27	chr21:45905000-45906600	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr21:45905000-45906600	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr21:45905000-45906600	Enhancers	Placenta	Placenta
30	chr21:45905200-45905400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr21:45905200-45905400	Enhancers	Gastric	stomach
32	chr21:45905200-45905400	Enhancers	Lung	lung
33	chr21:45905200-45905600	Active TSS	H1 Cell Line	embryonic stem cell
34	chr21:45905200-45905600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr21:45905200-45905600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr21:45905200-45905600	Active TSS	Fetal Thymus	thymus
37	chr21:45905200-45905800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr21:45905200-45905800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr21:45905200-45906200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr21:45905200-45906200	Flanking Active TSS	Primary T cells from cord blood	blood
41	chr21:45905200-45906200	Active TSS	Adipose Nuclei	Adipose
42	chr21:45905200-45906400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr21:45905200-45906400	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr21:45905200-45906600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr21:45905200-45906600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr21:45905200-45906600	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr21:45905200-45906600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr21:45905200-45906600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr21:45905200-45906600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr21:45905200-45906600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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