Variant report

Variant	nsv587678
Chromosome Location	chr21:44825536-44839153
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:55)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

No data

(count:55 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr21:44839076..44839959-chr21:45066251..45066972,2	MCF-7	breast:
2	chr21:44817777..44820163-chr21:44837731..44840134,2	MCF-7	breast:
3	chr21:44749105..44755281-chr21:44829152..44835339,7	MCF-7	breast:
4	chr21:44837787..44838640-chrX:48900336..48901307,2	Hela-S3	cervix:
5	chr21:44824614..44826616-chr21:44827888..44829786,2	MCF-7	breast:
6	chr21:44835215..44837939-chr21:44907787..44909882,2	MCF-7	breast:
7	chr21:44829086..44831055-chr21:44919731..44921283,2	MCF-7	breast:
8	chr21:44814731..44816926-chr21:44832531..44834607,2	MCF-7	breast:
9	chr21:44759532..44761977-chr21:44827634..44830066,2	MCF-7	breast:
10	chr12:7053051..7053892-chr21:44838844..44839663,2	Hela-S3	cervix:
11	chr21:44826742..44829631-chr21:44845519..44848403,3	K562	blood:
12	chr21:44826966..44831025-chr21:44834316..44837805,5	K562	blood:
13	chr21:44393742..44396489-chr21:44837195..44839008,3	MCF-7	breast:
14	chr21:44829762..44832356-chr21:44845414..44847216,3	K562	blood:
15	chr21:44818343..44820016-chr21:44828957..44830875,2	MCF-7	breast:
16	chr11:82997053..82997597-chr21:44836794..44837527,2	Hela-S3	cervix:
17	chr10:69865425..69865958-chr21:44838150..44838948,2	Hela-S3	cervix:
18	chr21:44818715..44822400-chr21:44825874..44830059,6	MCF-7	breast:
19	chr21:44595496..44597017-chr21:44829022..44831353,2	MCF-7	breast:
20	chr21:44810007..44811602-chr21:44823731..44826616,2	K562	blood:
21	chr21:44832201..44834588-chr21:44921157..44924539,3	MCF-7	breast:
22	chr1:28876420..28878928-chr21:44838412..44840928,2	K562	blood:
23	chr21:44817995..44818827-chr21:44829450..44830022,2	MCF-7	breast:
24	chr21:44825113..44826687-chr21:44829541..44831627,2	K562	blood:
25	chr21:44823778..44826577-chr21:44921300..44923032,2	MCF-7	breast:
26	chr21:44815903..44818451-chr21:44831220..44833651,3	MCF-7	breast:
27	chr21:44834200..44834810-chr5:65017885..65018593,2	Hela-S3	cervix:
28	chr21:44829643..44831600-chr21:44834056..44835815,3	MCF-7	breast:
29	chr21:44596870..44597527-chr21:44832462..44833303,2	Hela-S3	cervix:
30	chr21:44823951..44826613-chr21:44829582..44832057,3	K562	blood:
31	chr21:44762637..44765134-chr21:44833534..44838012,6	MCF-7	breast:
32	chr14:90849203..90849962-chr21:44837971..44838757,2	Hela-S3	cervix:
33	chr21:44826966..44831025-chr21:44834316..44837805,5	K562	blood:
34	chr21:44762797..44764586-chr21:44838192..44840388,2	MCF-7	breast:
35	chr13:99738994..99739700-chr21:44835814..44836575,2	Hela-S3	cervix:
36	chr21:44816513..44819832-chr21:44823325..44826638,3	MCF-7	breast:
37	chr21:44810332..44812959-chr21:44829398..44831869,3	MCF-7	breast:
38	chr21:44823951..44826613-chr21:44829582..44832057,3	K562	blood:
39	chr21:44815060..44818053-chr21:44827899..44829488,2	MCF-7	breast:
40	chr21:44595506..44597559-chr21:44837131..44839693,2	MCF-7	breast:
41	chr21:44829431..44829955-chr21:44849916..44850639,2	MCF-7	breast:
42	chr21:44835183..44837638-chr21:45079405..45081633,2	K562	blood:
43	chr21:44762766..44765210-chr21:44829593..44833216,5	MCF-7	breast:
44	chr21:44826611..44829527-chr21:44923973..44926200,2	MCF-7	breast:
45	chr21:44833113..44833867-chr6:12008935..12009469,2	Hela-S3	cervix:
46	chr21:44829643..44831600-chr21:44834056..44835815,3	MCF-7	breast:
47	chr11:66845412..66846012-chr21:44835009..44836001,2	Hela-S3	cervix:
48	chr21:44825113..44826687-chr21:44829541..44831627,2	K562	blood:
49	chr21:44824614..44826616-chr21:44827888..44829786,2	MCF-7	breast:
50	chr21:44818567..44821286-chr21:44833722..44837322,3	MCF-7	breast:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	SIK1	hsa-miR-32-5p	chr21:44834567-44834561
2	SIK1	hsa-miR-32-5p	chr21:44835766-44835791
3	SIK1	hsa-miR-32-5p	chr21:44835772-44835765

Variant related genes	Relation type
ENSG00000273162	chromatin interactions
ENSG00000137500	chromatin interactions
ENSG00000068323	chromatin interactions
ENSG00000123213	chromatin interactions
ENSG00000160199	chromatin interactions
ENSG00000255234	chromatin interactions
ENSG00000111678	chromatin interactions
ENSG00000197860	chromatin interactions
ENSG00000272173	chromatin interactions
ENSG00000138347	chromatin interactions
ENSG00000142178	chromatin interactions
ENSG00000270022	chromatin interactions
ENSG00000237864	chromatin interactions
ENSG00000160208	chromatin interactions
ENSG00000095951	chromatin interactions

Extended variants
information (count: 777 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:777 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs471712	chr21:44825536-44825537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182809465	chr21:44825572-44825573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186623535	chr21:44825600-44825601	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559816010	chr21:44825626-44825627	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs367738284	chr21:44825627-44825628	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545032718	chr21:44825681-44825682	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2096852	chr21:44825683-44825684	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
8	rs531154457	chr21:44825685-44825686	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549546018	chr21:44825693-44825694	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561283906	chr21:44825698-44825699	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142529476	chr21:44825707-44825708	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547149504	chr21:44825709-44825710	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs548138477	chr21:44825712-44825713	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566531578	chr21:44825713-44825714	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539426690	chr21:44825716-44825717	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551426598	chr21:44825720-44825721	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2105659	chr21:44825727-44825728	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs117089782	chr21:44825742-44825743	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs113570146	chr21:44825756-44825757	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555646492	chr21:44825764-44825765	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs150257635	chr21:44825791-44825792	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570296795	chr21:44825831-44825832	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs117483680	chr21:44825835-44825836	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs577741075	chr21:44825839-44825840	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs190350690	chr21:44825897-44825898	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs563381650	chr21:44825904-44825905	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs575243312	chr21:44825905-44825906	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs542904386	chr21:44825907-44825908	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs561649519	chr21:44825918-44825919	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs73906541	chr21:44825934-44825935	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs547207018	chr21:44825956-44825957	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs59394421	chr21:44825998-44825999	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs376105208	chr21:44826001-44826002	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs533108512	chr21:44826020-44826021	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs551389924	chr21:44826021-44826022	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs182975505	chr21:44826036-44826037	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs187652879	chr21:44826037-44826038	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs568026998	chr21:44826038-44826039	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs567583164	chr21:44826107-44826108	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs192500743	chr21:44826118-44826119	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs552793853	chr21:44826144-44826145	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs571396149	chr21:44826164-44826165	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs538706740	chr21:44826180-44826181	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs113041201	chr21:44826209-44826210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201429500	chr21:44826219-44826220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184055481	chr21:44826241-44826242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575207097	chr21:44826271-44826272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34438171	chr21:44826287-44826288	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs554949647	chr21:44826288-44826289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187453834	chr21:44826294-44826295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Breast cancer	21364760	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Prostate cancer	18632612	CNVD
Neuroblastoma	20406844	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
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:691 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44790600-44830800	Weak transcription	Right Atrium	heart
2	chr21:44817600-44829200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr21:44821200-44829000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr21:44821200-44829200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr21:44821600-44835400	Weak transcription	Fetal Brain Female	brain
6	chr21:44821800-44831800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr21:44822000-44830000	Weak transcription	A549	lung
8	chr21:44822200-44828600	Weak transcription	GM12878-XiMat	blood
9	chr21:44822200-44829200	Weak transcription	Thymus	Thymus
10	chr21:44822400-44829000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr21:44822600-44825800	Weak transcription	Right Ventricle	heart
12	chr21:44823000-44828800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr21:44823200-44829200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr21:44823600-44825600	Enhancers	Fetal Muscle Leg	muscle
15	chr21:44824000-44828800	Weak transcription	Brain Germinal Matrix	brain
16	chr21:44824200-44828200	Weak transcription	Primary B cells from cord blood	blood
17	chr21:44824200-44828800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr21:44824400-44825800	Enhancers	HepG2	liver
19	chr21:44824400-44826800	Weak transcription	Fetal Intestine Large	intestine
20	chr21:44824600-44825600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr21:44824600-44826600	Weak transcription	Fetal Intestine Small	intestine
22	chr21:44824600-44826800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr21:44824600-44829200	Weak transcription	Spleen	Spleen
24	chr21:44824800-44827200	Weak transcription	Primary B cells from peripheral blood	blood
25	chr21:44824800-44829000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr21:44825000-44826800	Weak transcription	Liver	Liver
27	chr21:44825000-44829400	Weak transcription	Esophagus	oesophagus
28	chr21:44825000-44830400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr21:44825000-44831600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr21:44825000-44833200	Weak transcription	HSMMtube	muscle
31	chr21:44825600-44825800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr21:44825600-44826000	Bivalent Enhancer	Fetal Muscle Leg	muscle
33	chr21:44825600-44826200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr21:44825800-44826000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr21:44825800-44826000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr21:44825800-44826600	Weak transcription	HepG2	liver
37	chr21:44826000-44827000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr21:44826000-44829200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr21:44826000-44835000	Weak transcription	Right Ventricle	heart
40	chr21:44826600-44827800	Enhancers	Fetal Intestine Small	intestine
41	chr21:44826600-44828400	Enhancers	HepG2	liver
42	chr21:44826800-44827600	Enhancers	Duodenum Mucosa	Duodenum
43	chr21:44826800-44827600	Enhancers	Fetal Intestine Large	intestine
44	chr21:44826800-44827800	Enhancers	Liver	Liver
45	chr21:44827000-44827200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr21:44827200-44828800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr21:44827200-44830000	Enhancers	Primary B cells from peripheral blood	blood
48	chr21:44827600-44829400	Weak transcription	Duodenum Mucosa	Duodenum
49	chr21:44827600-44829600	Weak transcription	Fetal Intestine Large	intestine
50	chr21:44827800-44829600	Weak transcription	Fetal Intestine Small	intestine

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