Variant report

Variant	nsv965985
Chromosome Location	chr21:46225485-46228954
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:72)
CpG islands
(count:61)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:72 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr21:46227085-46227097	MCF-7	breast:	n/a	n/a
2	CTCF	chr21:46226980-46227130	WERI-Rb-1	eye:	n/a	n/a
3	CTCF	chr21:46227073-46227084	MCF-7	breast:	n/a	n/a
4	CTCF	chr21:46226523-46227012	T-47D	breast:	n/a	n/a
5	EP300	chr21:46224525-46225909	SK-N-SH	brain:	n/a	n/a
6	MAFF	chr21:46225828-46226093	HepG2	liver:	n/a	chr21:46225970-46225988
7	MAFK	chr21:46225869-46226027	Hela-S3	cervix:	n/a	chr21:46225971-46225986
8	MAFK	chr21:46225807-46226113	IMR90	lung:	n/a	chr21:46225971-46225986
9	MAFK	chr21:46225810-46226117	HepG2	liver:	n/a	chr21:46225971-46225986
10	MAFK	chr21:46225800-46226131	HepG2	liver:	n/a	chr21:46225971-46225986
11	MYC	chr21:46226930-46226951	MCF-7	breast:	n/a	n/a
12	POLR2A	chr21:46220710-46226000	K562	blood:	n/a	n/a
13	POLR2A	chr21:46224046-46225500	MCF-7	breast:	n/a	n/a
14	POLR2A	chr21:46225292-46225747	U87	brain:	n/a	n/a
15	POLR2A	chr21:46227476-46227553	HepG2	liver:	n/a	n/a
16	POLR2A	chr21:46227061-46227126	MCF-7	breast:	n/a	n/a
17	POLR2A	chr21:46221340-46225636	GM12892	blood:	n/a	n/a
18	POLR2A	chr21:46227020-46227040	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr21:46227698-46227704	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr21:46226512-46226943	GM12878	blood:	n/a	n/a
21	POLR2A	chr21:46226836-46227243	GM12891	blood:	n/a	n/a
22	POLR2A	chr21:46226954-46227172	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr21:46221550-46227421	K562	blood:	n/a	n/a
24	POLR2A	chr21:46225292-46225685	U87	brain:	n/a	n/a
25	POLR2A	chr21:46220458-46225731	K562	blood:	n/a	n/a
26	POLR2A	chr21:46223376-46225822	Raji	blood:	n/a	n/a
27	POLR2A	chr21:46222085-46225519	GM12891	blood:	n/a	n/a
28	POLR2A	chr21:46226379-46227109	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr21:46220865-46226037	GM12891	blood:	n/a	n/a
30	POLR2A	chr21:46227141-46227145	MCF-7	breast:	n/a	n/a
31	POLR2A	chr21:46222351-46225533	GM12878	blood:	n/a	n/a
32	POLR2A	chr21:46228349-46228632	K562	blood:	n/a	n/a
33	POLR2A	chr21:46226667-46226796	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr21:46224685-46225602	GM12892	blood:	n/a	n/a
35	POLR2A	chr21:46227768-46227783	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr21:46226982-46227156	HepG2	liver:	n/a	n/a
37	POLR2A	chr21:46227687-46227697	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr21:46227361-46227530	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr21:46226920-46227105	K562	blood:	n/a	n/a
40	POLR2A	chr21:46226647-46227824	GM12878	blood:	n/a	n/a
41	POLR2A	chr21:46221486-46225982	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr21:46227650-46227769	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr21:46224167-46225495	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr21:46223597-46225876	HEK293	kidney:	n/a	n/a
45	POLR2A	chr21:46226816-46227058	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr21:46221326-46226084	HepG2	liver:	n/a	n/a
47	POLR2A	chr21:46225145-46225519	ECC-1	luminal epithelium:	n/a	n/a
48	POLR2A	chr21:46227517-46227523	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr21:46221076-46225970	GM12878	blood:	n/a	n/a
50	POLR2A	chr21:46224345-46225590	Hela-S3	cervix:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:46225890-46225940	HEK293	kidney:	embryo
2	chr21:46225890-46225940	AG09319	gingival:	n/a
3	chr21:46225890-46225940	K562	blood:	n/a
4	chr21:46225890-46225940	MCF10A-Er-Src	breast:	n/a
5	chr21:46225890-46225940	BJ	skin:	n/a
6	chr21:46225890-46225940	GM12878	blood:	n/a
7	chr21:46225890-46225940	HCM	heart:	n/a
8	chr21:46225890-46225940	HCT-116	colon:	n/a
9	chr21:46225890-46225940	AG04449	skin:	fetal
10	chr21:46225890-46225940	ovcar-3	ovarian:	n/a
11	chr21:46225890-46225940	HCPEpiC	choroid plexus:	n/a
12	chr21:46225890-46225940	LNCaP	prostate:	n/a
13	chr21:46225890-46225940	U87	brain:	n/a
14	chr21:46225890-46225940	MCF-7	breast:	n/a
15	chr21:46225890-46225940	SKMC	muscle:	n/a
16	chr21:46225890-46225940	GM06990	blood:	n/a
17	chr21:46225890-46225940	SAEC	small airway:	n/a
18	chr21:46225890-46225940	HepG2	liver:	n/a
19	chr21:46225890-46225940	NHBE	bronchial:	n/a
20	chr21:46225890-46225940	HNPCEpiC	eye:	n/a
21	chr21:46225890-46225940	HPAEpiC	pulmonary alveolar:	n/a
22	chr21:46225890-46225940	HUVEC	blood vessel:	n/a
23	chr21:46225890-46225940	Jurkat	blood:	n/a
24	chr21:46225890-46225940	PANC-1	pancreas:	n/a
25	chr21:46225890-46225940	GM19239	blood:	n/a
26	chr21:46225890-46225940	SK-N-SH_RA	brain:	n/a
27	chr21:46225890-46225940	PrEC	prostate:	n/a
28	chr21:46225890-46225940	HEEpiC	esophagus:	n/a
29	chr21:46225890-46225940	IMR90	lung:	fetal
30	chr21:46225890-46225940	HAEpiC	amniotic membrane:	n/a
31	chr21:46225890-46225940	AG10803	skin:	n/a
32	chr21:46225890-46225940	Caco-2	colon:	n/a
33	chr21:46225890-46225940	HRPEpiC	eye:	n/a
34	chr21:46225890-46225940	NB4	blood:	n/a
35	chr21:46225890-46225940	Hela-S3	cervix:	n/a
36	chr21:46225890-46225940	A549	lung:	n/a
37	chr21:46225890-46225940	BE2_C	brain:	n/a
38	chr21:46225890-46225940	HMEC	breast:	n/a
39	chr21:46225890-46225940	ProgFib	skin:	n/a
40	chr21:46225890-46225940	SK-N-MC	brain:	n/a
41	chr21:46225890-46225940	T-47D	breast:	n/a
42	chr21:46225890-46225940	SK-N-SH	brain:	n/a
43	chr21:46225890-46225940	HL-60	blood:	n/a
44	chr21:46225890-46225940	ECC-1	luminal epithelium:	n/a
45	chr21:46225890-46225940	GM12892	blood:	n/a
46	chr21:46225890-46225940	AoSMC	blood vessel:	n/a
47	chr21:46225890-46225940	NHDF-neo	bronchial:	n/a
48	chr21:46225890-46225940	GM12891	blood:	n/a
49	chr21:46225890-46225940	RPTEC	kidney:	n/a
50	chr21:46225890-46225940	HRCEpiC	kidney:	n/a

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46225527..46227783-chr21:46359339..46361331,2	MCF-7	breast:
2	chr21:46223596..46225546-chr21:46364000..46366683,2	MCF-7	breast:
3	chr21:46226063..46230226-chr21:46492213..46495741,5	K562	blood:
4	chr21:46220228..46226309-chr21:46349546..46355767,8	K562	blood:
5	chr21:46223417..46225728-chr21:46304439..46306955,2	K562	blood:
6	chr21:46226554..46228509-chr21:46290759..46292691,2	K562	blood:
7	chr21:46223675..46225793-chr21:46292285..46293975,2	MCF-7	breast:
8	chr21:46225579..46227162-chr21:46344756..46347625,2	MCF-7	breast:
9	chr21:46224269..46228564-chr21:46290759..46294027,4	K562	blood:
10	chr21:46228726..46231718-chr21:46493233..46495229,4	K562	blood:
11	chr21:46227491..46230119-chr21:46302500..46304134,2	MCF-7	breast:
12	chr21:46227093..46229223-chr21:46316542..46319041,2	K562	blood:
13	chr21:46227674..46230605-chr21:46271074..46273395,2	MCF-7	breast:
14	chr21:46220930..46225769-chr21:46292170..46294469,5	K562	blood:

No data

Variant related genes	Relation type
UBE2G2	TF binding region
UBE2G2	CpG island
ENSG00000197381	chromatin interactions
ENSG00000273027	chromatin interactions
ENSG00000160256	chromatin interactions
ENSG00000183250	chromatin interactions
ENSG00000235374	chromatin interactions
ENSG00000160255	chromatin interactions
ENSG00000183255	chromatin interactions
ENSG00000268856	chromatin interactions

Extended variants
information (count: 139 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557753977	chr21:46225520-46225521	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs187516208	chr21:46225640-46225641	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs192371457	chr21:46225644-46225645	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs184965500	chr21:46225645-46225646	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs235292	chr21:46225665-46225666	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs146962847	chr21:46225685-46225686	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs544309871	chr21:46225774-46225775	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs9637164	chr21:46225840-46225841	Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs553270862	chr21:46225899-46225900	Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs138078875	chr21:46225959-46225960	Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs529261490	chr21:46225988-46225989	Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs368591851	chr21:46225989-46225990	Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs547429818	chr21:46226005-46226006	Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs566015193	chr21:46226007-46226008	Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs368345123	chr21:46226108-46226109	Weak transcription Strong transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs564173688	chr21:46226125-46226126	Weak transcription Strong transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs187503712	chr21:46226151-46226152	Weak transcription Strong transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs578065725	chr21:46226161-46226162	Weak transcription Strong transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs369996303	chr21:46226222-46226223	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs11545089	chr21:46226277-46226278	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs539339685	chr21:46226278-46226279	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs192768583	chr21:46226396-46226397	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs561690180	chr21:46226402-46226403	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs113383188	chr21:46226460-46226461	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs113379284	chr21:46226461-46226462	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs10483079	chr21:46226538-46226539	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs111959345	chr21:46226545-46226546	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs8645	chr21:46226566-46226567	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs138672270	chr21:46226591-46226592	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs569672376	chr21:46226689-46226690	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs372273961	chr21:46226727-46226728	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs184681415	chr21:46226732-46226733	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs548988757	chr21:46226739-46226740	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs567993612	chr21:46226772-46226773	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs149347205	chr21:46226780-46226781	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs1051331	chr21:46226786-46226787	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs533039230	chr21:46226795-46226796	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs200616849	chr21:46226802-46226803	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs557082762	chr21:46226831-46226832	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs375748622	chr21:46226832-46226833	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs369827875	chr21:46226835-46226836	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs201522032	chr21:46226842-46226843	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs368636514	chr21:46226843-46226844	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs144658156	chr21:46226847-46226848	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs148509510	chr21:46226849-46226850	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs368198109	chr21:46226854-46226855	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs372124158	chr21:46226858-46226859	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs540931661	chr21:46226859-46226860	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs143802170	chr21:46226896-46226897	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs112870818	chr21:46226897-46226898	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
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
small cell lung cancer	17426248	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:172 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46222400-46236400	Weak transcription	Small Intestine	intestine
2	chr21:46222600-46226200	Weak transcription	Esophagus	oesophagus
3	chr21:46222600-46226800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr21:46222600-46234800	Weak transcription	Right Atrium	heart
5	chr21:46222600-46236400	Weak transcription	Stomach Mucosa	stomach
6	chr21:46222600-46237200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr21:46222800-46226400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr21:46222800-46226400	Weak transcription	Gastric	stomach
9	chr21:46222800-46226600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr21:46222800-46236400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr21:46222800-46237200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr21:46223000-46225800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr21:46223000-46226000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr21:46223000-46226800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr21:46223000-46230800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr21:46223000-46230800	Strong transcription	NHEK	skin
17	chr21:46223000-46232400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr21:46223000-46233600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr21:46223000-46233600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr21:46223000-46234200	Strong transcription	Placenta	Placenta
21	chr21:46223000-46236400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr21:46223000-46236400	Strong transcription	Fetal Stomach	stomach
23	chr21:46223200-46226400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr21:46223200-46226800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr21:46223200-46228000	Strong transcription	HSMM	muscle
26	chr21:46223200-46230000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr21:46223200-46230600	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr21:46223200-46234000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr21:46223200-46234000	Strong transcription	Stomach Smooth Muscle	stomach
30	chr21:46223200-46234000	Strong transcription	NHLF	lung
31	chr21:46223200-46235200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr21:46223200-46235800	Strong transcription	Fetal Intestine Small	intestine
33	chr21:46223400-46226000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr21:46223400-46226400	Weak transcription	A549	lung
35	chr21:46223400-46230400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr21:46223400-46230800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr21:46223400-46231000	Strong transcription	Brain Inferior Temporal Lobe	brain
38	chr21:46223400-46231200	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr21:46223400-46231200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr21:46223400-46233000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr21:46223400-46233800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr21:46223400-46233800	Strong transcription	Fetal Muscle Trunk	muscle
43	chr21:46223400-46234000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr21:46223400-46234000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr21:46223400-46234600	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr21:46223600-46226600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr21:46223600-46229600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr21:46223600-46230800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr21:46223600-46231000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr21:46223600-46232400	Strong transcription	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links