Variant report

Variant	nsv966028
Chromosome Location	chr21:45810980-45840409
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:122)
CpG islands
(count:366)
Chromatin interactive
region (count:12)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:122 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr21:45827442-45827657	K562	blood:	n/a	n/a
2	ATF1	chr21:45823422-45823708	K562	blood:	n/a	n/a
3	ATF3	chr21:45811287-45811452	K562	blood:	n/a	n/a
4	BCL3	chr21:45823228-45823611	GM12878	blood:	n/a	n/a
5	BHLHE40	chr21:45811646-45811928	K562	blood:	n/a	n/a
6	BHLHE40	chr21:45811714-45811860	GM12878	blood:	n/a	n/a
7	CEBPB	chr21:45827518-45827659	IMR90	lung:	n/a	chr21:45827565-45827576
8	CEBPB	chr21:45832778-45832795	A549	lung:	n/a	n/a
9	CEBPB	chr21:45827467-45827606	K562	blood:	n/a	chr21:45827565-45827576
10	CEBPB	chr21:45827482-45827692	HepG2	liver:	n/a	chr21:45827565-45827576
11	CTCF	chr21:45839551-45839626	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr21:45811763-45811792	MCF-7	breast:	n/a	n/a
13	CTCF	chr21:45830785-45830904	LNCaP	prostate:	n/a	n/a
14	CTCF	chr21:45836935-45836998	Lung_OC	lung:	n/a	n/a
15	CTCF	chr21:45836716-45836756	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr21:45836954-45836986	Spleen_OC	spleen:	n/a	n/a
17	CTCF	chr21:45839387-45839729	GM19239	blood:	n/a	n/a
18	CTCF	chr21:45811761-45811782	MCF-7	breast:	n/a	n/a
19	CTCF	chr21:45836937-45837011	Kidney_OC	kidney:	n/a	n/a
20	CTCF	chr21:45839796-45839800	GM19239	blood:	n/a	n/a
21	CTCF	chr21:45811778-45811814	Spleen_OC	spleen:	n/a	n/a
22	CTCF	chr21:45824783-45824831	GM20000	blood:	n/a	n/a
23	CTCF	chr21:45824657-45824673	GM10266	blood:	n/a	n/a
24	CTCF	chr21:45829684-45829709	Kidney_OC	kidney:	n/a	n/a
25	CTCF	chr21:45839767-45839794	GM19239	blood:	n/a	n/a
26	CTCF	chr21:45811773-45811776	Spleen_OC	spleen:	n/a	n/a
27	CTCF	chr21:45824679-45824772	GM10266	blood:	n/a	n/a
28	CTCF	chr21:45817310-45817367	H1-hESC	embryonic stem cell:	n/a	chr21:45817318-45817336 chr21:45817320-45817333
29	E2F6	chr21:45811302-45811477	K562	blood:	n/a	n/a
30	EBF1	chr21:45836505-45837767	GM12878	blood:	n/a	n/a
31	EBF1	chr21:45836512-45837751	GM12878	blood:	n/a	n/a
32	EP300	chr21:45829879-45830042	GM12878	blood:	n/a	n/a
33	FOS	chr21:45826122-45826260	MCF10A-Er-Src	breast:	n/a	n/a
34	GATA3	chr21:45814866-45815133	T-47D	breast:	n/a	chr21:45815002-45815009 chr21:45815001-45815009 chr21:45815002-45815009 chr21:45814991-45815008 chr21:45815002-45815009 chr21:45814999-45815011
35	HEY1	chr21:45837385-45837704	K562	blood:	n/a	n/a
36	HMGN3	chr21:45811364-45811477	K562	blood:	n/a	n/a
37	HMGN3	chr21:45817348-45817405	K562	blood:	n/a	n/a
38	IRF4	chr21:45829803-45830192	GM12878	blood:	n/a	n/a
39	JUND	chr21:45827449-45827718	HepG2	liver:	n/a	n/a
40	KAP1	chr21:45831938-45832193	K562	blood:	n/a	n/a
41	MAFF	chr21:45824463-45824593	HepG2	liver:	n/a	n/a
42	MAFK	chr21:45824332-45824601	HepG2	liver:	n/a	chr21:45824469-45824480 chr21:45824351-45824365 chr21:45824352-45824362 chr21:45824350-45824366 chr21:45824469-45824480 chr21:45824469-45824484
43	MAFK	chr21:45824390-45824599	HepG2	liver:	n/a	chr21:45824469-45824480 chr21:45824469-45824480 chr21:45824469-45824484
44	MAX	chr21:45811722-45811794	K562	blood:	n/a	n/a
45	MAX	chr21:45811224-45811547	K562	blood:	n/a	n/a
46	MAX	chr21:45811572-45811882	K562	blood:	n/a	n/a
47	MAX	chr21:45823411-45823769	NB4	blood:	n/a	n/a
48	MYC	chr21:45839661-45839664	MCF-7	breast:	n/a	n/a
49	MYC	chr21:45839654-45839657	MCF-7	breast:	n/a	n/a
50	MYC	chr21:45839672-45839680	MCF-7	breast:	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	chr21:45811432-45811482	Caco-2	colon:	n/a
2	chr21:45811549-45811599	MCF-7	breast:	n/a
3	chr21:45811432-45811482	IMR90	lung:	fetal
4	chr21:45812666-45812716	CMK	blood:	n/a
5	chr21:45811363-45811413	AG04450	lung:	fetal
6	chr21:45811547-45811597	K562	blood:	n/a
7	chr21:45812666-45812716	HRE	kidney:	n/a
8	chr21:45811432-45811482	PANC-1	pancreas:	n/a
9	chr21:45811432-45811482	NB4	blood:	n/a
10	chr21:45811549-45811599	Caco-2	colon:	n/a
11	chr21:45815264-45815314	HMEC	breast:	n/a
12	chr21:45812666-45812716	Hepatocyte	liver:	n/a
13	chr21:45811363-45811413	Caco-2	colon:	n/a
14	chr21:45811363-45811413	SAEC	small airway:	n/a
15	chr21:45815264-45815314	ECC-1	luminal epithelium:	n/a
16	chr21:45811432-45811482	GM06990	blood:	n/a
17	chr21:45812666-45812716	HEEpiC	esophagus:	n/a
18	chr21:45811363-45811413	AG09319	gingival:	n/a
19	chr21:45815264-45815314	AG10803	skin:	n/a
20	chr21:45811432-45811482	HNPCEpiC	eye:	n/a
21	chr21:45812666-45812716	HAEpiC	amniotic membrane:	n/a
22	chr21:45811547-45811597	PANC-1	pancreas:	n/a
23	chr21:45811363-45811413	AG10803	skin:	n/a
24	chr21:45811549-45811599	ProgFib	skin:	n/a
25	chr21:45811363-45811413	ProgFib	skin:	n/a
26	chr21:45811547-45811597	HMEC	breast:	n/a
27	chr21:45811432-45811482	BE2_C	brain:	n/a
28	chr21:45812666-45812716	Hela-S3	cervix:	n/a
29	chr21:45811547-45811597	GM19239	blood:	n/a
30	chr21:45811547-45811597	AoSMC	blood vessel:	n/a
31	chr21:45815264-45815314	HUVEC	blood vessel:	n/a
32	chr21:45812666-45812716	RPTEC	kidney:	n/a
33	chr21:45811547-45811597	GM12892	blood:	n/a
34	chr21:45811549-45811599	PANC-1	pancreas:	n/a
35	chr21:45811432-45811482	HCT-116	colon:	n/a
36	chr21:45811363-45811413	PANC-1	pancreas:	n/a
37	chr21:45811547-45811597	GM06990	blood:	n/a
38	chr21:45811363-45811413	HL-60	blood:	n/a
39	chr21:45811363-45811413	PFSK-1	brain:	n/a
40	chr21:45811549-45811599	AG04450	lung:	fetal
41	chr21:45811363-45811413	HIPEpiC	eye:	n/a
42	chr21:45811363-45811413	MCF10A-Er-Src	breast:	n/a
43	chr21:45811363-45811413	HPAEpiC	pulmonary alveolar:	n/a
44	chr21:45811549-45811599	BJ	skin:	n/a
45	chr21:45812666-45812716	ProgFib	skin:	n/a
46	chr21:45811547-45811597	BE2_C	brain:	n/a
47	chr21:45811363-45811413	HCF	heart:	n/a
48	chr21:45811549-45811599	AG09319	gingival:	n/a
49	chr21:45812666-45812716	ECC-1	luminal epithelium:	n/a
50	chr21:45811547-45811597	SK-N-SH_RA	brain:	n/a

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45810327..45812082-chr21:45813683..45817814,3	MCF-7	breast:
2	chr21:45759454..45761302-chr21:45817481..45820269,2	MCF-7	breast:
3	chr21:45813102..45816153-chr21:45817803..45820914,3	K562	blood:
4	chr21:45789259..45790797-chr21:45809641..45812634,2	MCF-7	breast:
5	chr21:45805704..45807431-chr21:45822941..45824536,2	MCF-7	breast:
6	chr21:45810327..45812082-chr21:45813683..45817814,3	MCF-7	breast:
7	chr21:45813102..45816153-chr21:45817803..45820914,3	K562	blood:
8	chr21:45807553..45809481-chr21:45809667..45811527,2	K562	blood:
9	chr21:45815267..45816924-chr21:45817167..45818818,2	MCF-7	breast:
10	chr21:45834549..45837461-chr21:45842210..45845820,3	K562	blood:
11	chr21:45832657..45834596-chr21:45836196..45839174,3	K562	blood:
12	chr21:45815267..45816924-chr21:45817167..45818818,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TSPEAR-2	chr21:45834473-45834827	ENSG00000230061
2	lnc-LRRC3-6	chr21:45839915-45840003	NONHSAT082516
3	lnc-LRRC3-6	chr21:45838020-45838050	NONHSAT082516
4	lnc-TSPEAR-2	chr21:45834475-45834827	NR_109964
5	lnc-LRRC3-6	chr21:45837996-45838050	ucscGeneNc_uc002zhn_1
6	lnc-LRRC3-6	chr21:45837996-45838050	NONHSAT082515

No data

Variant related genes	Relation type
ENSG00000230061	TF binding region
ENSG00000230061	CpG island
ENSG00000142185	chromatin interactions
ENSG00000230061	chromatin interactions

Extended variants
information (count: 1966 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:1966 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373741479	chr21:45810981-45810982	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547823379	chr21:45810990-45810991	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566358493	chr21:45810993-45810994	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539879028	chr21:45810998-45810999	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561804127	chr21:45811029-45811030	Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs534081028	chr21:45811040-45811041	Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs147849589	chr21:45811063-45811064	Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs537153852	chr21:45811096-45811097	Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs555792001	chr21:45811099-45811100	Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs369956988	chr21:45811118-45811119	Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs373421335	chr21:45811120-45811121	Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs376797945	chr21:45811129-45811130	Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs368560452	chr21:45811142-45811143	Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs202156535	chr21:45811250-45811251	ZNF genes & repeats Genic enhancers Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560050263	chr21:45811252-45811253	ZNF genes & repeats Genic enhancers Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572023310	chr21:45811254-45811255	ZNF genes & repeats Genic enhancers Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs267606157	chr21:45811274-45811275	ZNF genes & repeats Genic enhancers Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372512035	chr21:45811301-45811302	ZNF genes & repeats Genic enhancers Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375416277	chr21:45811313-45811314	ZNF genes & repeats Genic enhancers Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368036354	chr21:45811314-45811315	ZNF genes & repeats Genic enhancers Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371597846	chr21:45811336-45811337	ZNF genes & repeats Genic enhancers Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1556314	chr21:45811343-45811344	ZNF genes & repeats Genic enhancers Strong transcription Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs201694683	chr21:45811346-45811347	ZNF genes & repeats Genic enhancers Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374830135	chr21:45811354-45811355	ZNF genes & repeats Genic enhancers Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200409451	chr21:45811355-45811356	ZNF genes & repeats Genic enhancers Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372273456	chr21:45811368-45811369	ZNF genes & repeats Genic enhancers Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs199615188	chr21:45811411-45811412	ZNF genes & repeats Genic enhancers Strong transcription Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs368203550	chr21:45811416-45811417	ZNF genes & repeats Genic enhancers Strong transcription Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs201044998	chr21:45811438-45811439	ZNF genes & repeats Genic enhancers Strong transcription Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs201888774	chr21:45811463-45811464	ZNF genes & repeats Genic enhancers Strong transcription Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs566245984	chr21:45811472-45811473	ZNF genes & repeats Genic enhancers Strong transcription Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs540158805	chr21:45811476-45811477	ZNF genes & repeats Genic enhancers Strong transcription Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs374884120	chr21:45811481-45811482	ZNF genes & repeats Genic enhancers Strong transcription Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs369053888	chr21:45811487-45811488	ZNF genes & repeats Genic enhancers Strong transcription Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs373139715	chr21:45811488-45811489	ZNF genes & repeats Genic enhancers Strong transcription Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs200702410	chr21:45811496-45811497	ZNF genes & repeats Genic enhancers Strong transcription Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs537449289	chr21:45811497-45811498	ZNF genes & repeats Genic enhancers Strong transcription Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs572285385	chr21:45811505-45811506	ZNF genes & repeats Genic enhancers Strong transcription Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs370201102	chr21:45811512-45811513	ZNF genes & repeats Genic enhancers Strong transcription Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs45576736	chr21:45811519-45811520	ZNF genes & repeats Genic enhancers Strong transcription Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs141482147	chr21:45811542-45811543	ZNF genes & repeats Genic enhancers Strong transcription Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs553570653	chr21:45811548-45811549	ZNF genes & repeats Genic enhancers Strong transcription Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs45500391	chr21:45811575-45811576	ZNF genes & repeats Genic enhancers Strong transcription Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs545699125	chr21:45811579-45811580	ZNF genes & repeats Genic enhancers Strong transcription Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs564027141	chr21:45811618-45811619	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs576003315	chr21:45811751-45811752	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs189678630	chr21:45811798-45811799	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs145342682	chr21:45811855-45811856	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs537569443	chr21:45811859-45811860	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs541100346	chr21:45811863-45811864	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:241 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45805200-45819400	Weak transcription	Primary T cells from cord blood	blood
2	chr21:45806800-45814800	Weak transcription	Fetal Thymus	thymus
3	chr21:45807200-45839400	Weak transcription	Gastric	stomach
4	chr21:45807400-45819800	Weak transcription	Brain Angular Gyrus	brain
5	chr21:45807800-45811000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr21:45808600-45811600	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr21:45808800-45811000	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr21:45809200-45819000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr21:45810200-45820600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr21:45810400-45811000	Weak transcription	Primary B cells from peripheral blood	blood
11	chr21:45810400-45811400	Weak transcription	Adipose Nuclei	Adipose
12	chr21:45810400-45811400	Strong transcription	Spleen	Spleen
13	chr21:45810600-45811200	Weak transcription	Primary B cells from cord blood	blood
14	chr21:45810600-45811200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr21:45810600-45811200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr21:45810800-45823400	Weak transcription	Brain Anterior Caudate	brain
17	chr21:45810800-45825000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr21:45811000-45811200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr21:45811000-45811200	ZNF genes & repeats	Thymus	Thymus
20	chr21:45811000-45812200	Enhancers	Primary B cells from peripheral blood	blood
21	chr21:45811000-45812200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr21:45811000-45812200	Genic enhancers	Monocytes-CD14+_RO01746	blood
23	chr21:45811000-45812400	Genic enhancers	Primary monocytes fromperipheralblood	blood
24	chr21:45811200-45811600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr21:45811200-45812200	Enhancers	Primary B cells from cord blood	blood
26	chr21:45811200-45812400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr21:45811200-45817200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr21:45811200-45821600	Weak transcription	Thymus	Thymus
29	chr21:45811400-45811600	Bivalent Enhancer	Fetal Stomach	stomach
30	chr21:45811400-45811800	Enhancers	Primary hematopoietic stem cells	blood
31	chr21:45811400-45811800	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr21:45811400-45811800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr21:45811400-45811800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr21:45811400-45812200	Enhancers	Adipose Nuclei	Adipose
35	chr21:45811400-45817200	Weak transcription	Spleen	Spleen
36	chr21:45811600-45812600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
37	chr21:45811600-45815200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr21:45811800-45812000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr21:45811800-45822000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr21:45811800-45825200	Weak transcription	Primary hematopoietic stem cells	blood
41	chr21:45812000-45821600	Weak transcription	Brain Hippocampus Middle	brain
42	chr21:45812200-45815600	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr21:45812200-45817400	Weak transcription	Adipose Nuclei	Adipose
44	chr21:45812200-45818800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr21:45812200-45823400	Weak transcription	Primary B cells from cord blood	blood
46	chr21:45812200-45825600	Weak transcription	Primary B cells from peripheral blood	blood
47	chr21:45812400-45812800	Enhancers	Stomach Mucosa	stomach
48	chr21:45812400-45813200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr21:45812400-45815800	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr21:45812600-45812800	Enhancers	Rectal Mucosa Donor 29	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links