Variant report

Variant	nsv587782
Chromosome Location	chr21:45803097-45816170
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45807553..45809481-chr21:45809667..45811527,2	K562	blood:
2	chr21:45805704..45807431-chr21:45822941..45824536,2	MCF-7	breast:
3	chr21:45807553..45809481-chr21:45809667..45811527,2	K562	blood:
4	chr21:45810327..45812082-chr21:45813683..45817814,3	MCF-7	breast:
5	chr21:45813102..45816153-chr21:45817803..45820914,3	K562	blood:
6	chr21:45810327..45812082-chr21:45813683..45817814,3	MCF-7	breast:
7	chr21:45799411..45801279-chr21:45802879..45804502,2	K562	blood:
8	chr21:45789259..45790797-chr21:45809641..45812634,2	MCF-7	breast:
9	chr21:45815267..45816924-chr21:45817167..45818818,2	MCF-7	breast:

No data

Extended variants
information (count: 593 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:593 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11911248	chr21:45803097-45803098	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs191534459	chr21:45803154-45803155	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184109424	chr21:45803161-45803162	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554818881	chr21:45803262-45803263	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369462370	chr21:45803268-45803269	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111259342	chr21:45803276-45803277	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116391637	chr21:45803279-45803280	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs151007154	chr21:45803307-45803308	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574666299	chr21:45803350-45803351	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542514933	chr21:45803358-45803359	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560585020	chr21:45803381-45803382	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572447061	chr21:45803401-45803402	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545878126	chr21:45803470-45803471	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187292873	chr21:45803471-45803472	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192284885	chr21:45803477-45803478	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185638793	chr21:45803543-45803544	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562695814	chr21:45803560-45803561	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573374974	chr21:45803566-45803567	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190214000	chr21:45803572-45803573	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11911332	chr21:45803612-45803613	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs566645160	chr21:45803628-45803629	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533811680	chr21:45803671-45803672	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551870439	chr21:45803703-45803704	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559071455	chr21:45803727-45803728	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577345391	chr21:45803732-45803733	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182400539	chr21:45803744-45803745	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537568964	chr21:45803801-45803802	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369928138	chr21:45803824-45803825	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544579526	chr21:45803878-45803879	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555791222	chr21:45803957-45803958	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184192018	chr21:45803966-45803967	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560081525	chr21:45804019-45804020	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188353889	chr21:45804106-45804107	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146328093	chr21:45804109-45804110	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139008724	chr21:45804219-45804220	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143020232	chr21:45804223-45804224	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181211277	chr21:45804260-45804261	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576478205	chr21:45804262-45804263	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs28616807	chr21:45804280-45804281	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs562124091	chr21:45804284-45804285	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147051711	chr21:45804287-45804288	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529940689	chr21:45804293-45804294	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs114724197	chr21:45804305-45804306	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138219220	chr21:45804319-45804320	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527606283	chr21:45804374-45804375	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552417715	chr21:45804380-45804381	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs80151806	chr21:45804404-45804405	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531166575	chr21:45804514-45804515	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564970175	chr21:45804552-45804553	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542015131	chr21:45804571-45804572	ZNF genes & repeats Strong transcription Weak transcription	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
Down syndrome	21154855	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45795400-45804000	Weak transcription	Thymus	Thymus
2	chr21:45796000-45803400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr21:45797400-45804000	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr21:45798000-45804400	Weak transcription	Colonic Mucosa	Colon
5	chr21:45798400-45804200	Strong transcription	Primary B cells from cord blood	blood
6	chr21:45798800-45804600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr21:45799800-45804000	Weak transcription	Primary B cells from peripheral blood	blood
8	chr21:45801200-45804200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr21:45802000-45805000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr21:45802200-45803200	Strong transcription	Brain Anterior Caudate	brain
11	chr21:45802200-45803400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr21:45802200-45803400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
13	chr21:45802200-45803400	ZNF genes & repeats	Spleen	Spleen
14	chr21:45802200-45804000	Strong transcription	Primary T cells from cord blood	blood
15	chr21:45802200-45804200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr21:45802200-45804600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
17	chr21:45802400-45803200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr21:45802400-45803400	ZNF genes & repeats	Esophagus	oesophagus
19	chr21:45802400-45803400	ZNF genes & repeats	Fetal Thymus	thymus
20	chr21:45802600-45803400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
21	chr21:45802600-45803400	Strong transcription	Brain Angular Gyrus	brain
22	chr21:45802600-45806000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
23	chr21:45802800-45803200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
24	chr21:45803000-45803200	ZNF genes & repeats	Adipose Nuclei	Adipose
25	chr21:45803000-45803200	ZNF genes & repeats	GM12878-XiMat	blood
26	chr21:45803000-45804200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr21:45803200-45803400	ZNF genes & repeats	Brain Anterior Caudate	brain
28	chr21:45803200-45804000	Weak transcription	Adipose Nuclei	Adipose
29	chr21:45803200-45804200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr21:45803400-45804200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr21:45803400-45804200	Weak transcription	Brain Angular Gyrus	brain
32	chr21:45803400-45804200	Weak transcription	Brain Anterior Caudate	brain
33	chr21:45803400-45804200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr21:45803400-45804200	Weak transcription	Fetal Thymus	thymus
35	chr21:45803400-45804800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr21:45803800-45804800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
37	chr21:45804000-45804800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
38	chr21:45804000-45805200	ZNF genes & repeats	Primary T cells from cord blood	blood
39	chr21:45804000-45805400	ZNF genes & repeats	Adipose Nuclei	Adipose
40	chr21:45804000-45805600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr21:45804000-45805800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
42	chr21:45804200-45804400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
43	chr21:45804200-45804400	ZNF genes & repeats	Brain Anterior Caudate	brain
44	chr21:45804200-45804400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
45	chr21:45804200-45804400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
46	chr21:45804200-45804600	ZNF genes & repeats	Primary B cells from cord blood	blood
47	chr21:45804200-45804600	ZNF genes & repeats	Brain Angular Gyrus	brain
48	chr21:45804200-45804600	ZNF genes & repeats	Fetal Thymus	thymus
49	chr21:45804200-45804800	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
50	chr21:45804200-45805000	ZNF genes & repeats	Brain Cingulate Gyrus	brain

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