Variant report

Variant	nsv587784
Chromosome Location	chr21:45811343-45816830
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 300 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:300 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	rs201694683	chr21:45811346-45811347	ZNF genes & repeats Genic enhancers Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374830135	chr21:45811354-45811355	ZNF genes & repeats Genic enhancers Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200409451	chr21:45811355-45811356	ZNF genes & repeats Genic enhancers Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372273456	chr21:45811368-45811369	ZNF genes & repeats Genic enhancers Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs199615188	chr21:45811411-45811412	ZNF genes & repeats Genic enhancers Strong transcription Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs368203550	chr21:45811416-45811417	ZNF genes & repeats Genic enhancers Strong transcription Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs201044998	chr21:45811438-45811439	ZNF genes & repeats Genic enhancers Strong transcription Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs201888774	chr21:45811463-45811464	ZNF genes & repeats Genic enhancers Strong transcription Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs566245984	chr21:45811472-45811473	ZNF genes & repeats Genic enhancers Strong transcription Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs540158805	chr21:45811476-45811477	ZNF genes & repeats Genic enhancers Strong transcription Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs374884120	chr21:45811481-45811482	ZNF genes & repeats Genic enhancers Strong transcription Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs369053888	chr21:45811487-45811488	ZNF genes & repeats Genic enhancers Strong transcription Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs373139715	chr21:45811488-45811489	ZNF genes & repeats Genic enhancers Strong transcription Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs200702410	chr21:45811496-45811497	ZNF genes & repeats Genic enhancers Strong transcription Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs537449289	chr21:45811497-45811498	ZNF genes & repeats Genic enhancers Strong transcription Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs572285385	chr21:45811505-45811506	ZNF genes & repeats Genic enhancers Strong transcription Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs370201102	chr21:45811512-45811513	ZNF genes & repeats Genic enhancers Strong transcription Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs45576736	chr21:45811519-45811520	ZNF genes & repeats Genic enhancers Strong transcription Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs141482147	chr21:45811542-45811543	ZNF genes & repeats Genic enhancers Strong transcription Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs553570653	chr21:45811548-45811549	ZNF genes & repeats Genic enhancers Strong transcription Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs45500391	chr21:45811575-45811576	ZNF genes & repeats Genic enhancers Strong transcription Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs545699125	chr21:45811579-45811580	ZNF genes & repeats Genic enhancers Strong transcription Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs564027141	chr21:45811618-45811619	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs576003315	chr21:45811751-45811752	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs189678630	chr21:45811798-45811799	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs145342682	chr21:45811855-45811856	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs537569443	chr21:45811859-45811860	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs541100346	chr21:45811863-45811864	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs370551133	chr21:45811887-45811888	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs533526337	chr21:45811909-45811910	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs552144242	chr21:45811918-45811919	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs375069725	chr21:45811954-45811955	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs570306994	chr21:45811997-45811998	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs530843901	chr21:45812011-45812012	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs28602337	chr21:45812020-45812021	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs28676533	chr21:45812021-45812022	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs182063143	chr21:45812026-45812027	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549374326	chr21:45812038-45812039	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185082105	chr21:45812061-45812062	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs571101811	chr21:45812075-45812076	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs531921180	chr21:45812088-45812089	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs567523852	chr21:45812089-45812090	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs145165755	chr21:45812098-45812099	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs553006639	chr21:45812103-45812104	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs149142362	chr21:45812174-45812175	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs71322561	chr21:45812183-45812184	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs368296931	chr21:45812197-45812198	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs143268204	chr21:45812245-45812246	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148325736	chr21:45812259-45812260	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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

Chromatin state (count:59 , 50 per page) page: 1 2

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	chr21:45808600-45811600	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr21:45809200-45819000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr21:45810200-45820600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr21:45810400-45811400	Weak transcription	Adipose Nuclei	Adipose
9	chr21:45810400-45811400	Strong transcription	Spleen	Spleen
10	chr21:45810800-45823400	Weak transcription	Brain Anterior Caudate	brain
11	chr21:45810800-45825000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr21:45811000-45812200	Enhancers	Primary B cells from peripheral blood	blood
13	chr21:45811000-45812200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr21:45811000-45812200	Genic enhancers	Monocytes-CD14+_RO01746	blood
15	chr21:45811000-45812400	Genic enhancers	Primary monocytes fromperipheralblood	blood
16	chr21:45811200-45811600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr21:45811200-45812200	Enhancers	Primary B cells from cord blood	blood
18	chr21:45811200-45812400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr21:45811200-45817200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr21:45811200-45821600	Weak transcription	Thymus	Thymus
21	chr21:45811400-45811600	Bivalent Enhancer	Fetal Stomach	stomach
22	chr21:45811400-45811800	Enhancers	Primary hematopoietic stem cells	blood
23	chr21:45811400-45811800	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr21:45811400-45811800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr21:45811400-45811800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr21:45811400-45812200	Enhancers	Adipose Nuclei	Adipose
27	chr21:45811400-45817200	Weak transcription	Spleen	Spleen
28	chr21:45811600-45812600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
29	chr21:45811600-45815200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr21:45811800-45812000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr21:45811800-45822000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr21:45811800-45825200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr21:45812000-45821600	Weak transcription	Brain Hippocampus Middle	brain
34	chr21:45812200-45815600	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr21:45812200-45817400	Weak transcription	Adipose Nuclei	Adipose
36	chr21:45812200-45818800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr21:45812200-45823400	Weak transcription	Primary B cells from cord blood	blood
38	chr21:45812200-45825600	Weak transcription	Primary B cells from peripheral blood	blood
39	chr21:45812400-45812800	Enhancers	Stomach Mucosa	stomach
40	chr21:45812400-45813200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr21:45812400-45815800	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr21:45812600-45812800	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr21:45812600-45815800	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr21:45812800-45815000	Weak transcription	Stomach Mucosa	stomach
45	chr21:45812800-45858200	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr21:45813200-45818400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr21:45814000-45833600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr21:45814800-45815600	Enhancers	Fetal Thymus	thymus
49	chr21:45815000-45815600	Enhancers	Stomach Mucosa	stomach
50	chr21:45815200-45815600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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