Variant report

Variant	nsv587679
Chromosome Location	chr21:44827526-44839153
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:49)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

No data

(count:49 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:44826742..44829631-chr21:44845519..44848403,3	K562	blood:
2	chr21:44839076..44839959-chr21:45066251..45066972,2	MCF-7	breast:
3	chr21:44393742..44396489-chr21:44837195..44839008,3	MCF-7	breast:
4	chr21:44824614..44826616-chr21:44827888..44829786,2	MCF-7	breast:
5	chr21:44817777..44820163-chr21:44837731..44840134,2	MCF-7	breast:
6	chr1:28876420..28878928-chr21:44838412..44840928,2	K562	blood:
7	chr21:44823951..44826613-chr21:44829582..44832057,3	K562	blood:
8	chr21:44833113..44833867-chr6:12008935..12009469,2	Hela-S3	cervix:
9	chr10:102820540..102821482-chr21:44836170..44837079,2	Hela-S3	cervix:
10	chr21:44833647..44834202-chr22:43011056..43011777,2	Hela-S3	cervix:
11	chr21:44835215..44837939-chr21:44907787..44909882,2	MCF-7	breast:
12	chr11:66845412..66846012-chr21:44835009..44836001,2	Hela-S3	cervix:
13	chr21:44595506..44597559-chr21:44837131..44839693,2	MCF-7	breast:
14	chr21:44829431..44829955-chr21:44849916..44850639,2	MCF-7	breast:
15	chr21:44818343..44820016-chr21:44828957..44830875,2	MCF-7	breast:
16	chr21:44814731..44816926-chr21:44832531..44834607,2	MCF-7	breast:
17	chr21:44818567..44821286-chr21:44833722..44837322,3	MCF-7	breast:
18	chr21:44596870..44597527-chr21:44832462..44833303,2	Hela-S3	cervix:
19	chr21:44815903..44818451-chr21:44831220..44833651,3	MCF-7	breast:
20	chr12:7053051..7053892-chr21:44838844..44839663,2	Hela-S3	cervix:
21	chr21:44595496..44597017-chr21:44829022..44831353,2	MCF-7	breast:
22	chr11:82997053..82997597-chr21:44836794..44837527,2	Hela-S3	cervix:
23	chr21:44762637..44765134-chr21:44833534..44838012,6	MCF-7	breast:
24	chr21:44829762..44832356-chr21:44845414..44847216,3	K562	blood:
25	chr21:44760953..44765969-chr21:44827582..44835473,8	MCF-7	breast:
26	chr21:44759532..44761977-chr21:44827634..44830066,2	MCF-7	breast:
27	chr21:44829086..44831055-chr21:44919731..44921283,2	MCF-7	breast:
28	chr21:44762797..44764586-chr21:44838192..44840388,2	MCF-7	breast:
29	chr21:44810332..44812959-chr21:44829398..44831869,3	MCF-7	breast:
30	chr21:44829643..44831600-chr21:44834056..44835815,3	MCF-7	breast:
31	chr21:44834200..44834810-chr5:65017885..65018593,2	Hela-S3	cervix:
32	chr10:59675342..59676099-chr21:44834961..44835685,2	Hela-S3	cervix:
33	chr21:44825113..44826687-chr21:44829541..44831627,2	K562	blood:
34	chr21:44762766..44765210-chr21:44829593..44833216,5	MCF-7	breast:
35	chr21:44838833..44841451-chr21:44904931..44907363,2	MCF-7	breast:
36	chr10:69865425..69865958-chr21:44838150..44838948,2	Hela-S3	cervix:
37	chr21:44815060..44818053-chr21:44827899..44829488,2	MCF-7	breast:
38	chr21:44749105..44755281-chr21:44829152..44835339,7	MCF-7	breast:
39	chr21:44826611..44829527-chr21:44923973..44926200,2	MCF-7	breast:
40	chr21:44835183..44837638-chr21:45079405..45081633,2	K562	blood:
41	chr21:44817995..44818827-chr21:44829450..44830022,2	MCF-7	breast:
42	chr21:44829643..44831600-chr21:44834056..44835815,3	MCF-7	breast:
43	chr13:99738994..99739700-chr21:44835814..44836575,2	Hela-S3	cervix:
44	chr21:44826966..44831025-chr21:44834316..44837805,5	K562	blood:
45	chr21:44832201..44834588-chr21:44921157..44924539,3	MCF-7	breast:
46	chr21:44818715..44822400-chr21:44825874..44830059,6	MCF-7	breast:
47	chr21:44826966..44831025-chr21:44834316..44837805,5	K562	blood:
48	chr21:44837787..44838640-chrX:48900336..48901307,2	Hela-S3	cervix:
49	chr14:90849203..90849962-chr21:44837971..44838757,2	Hela-S3	cervix:

No data

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

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

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

Extended variants
information (count: 678 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:678 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1102228	chr21:44827526-44827527	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs11911082	chr21:44827590-44827591	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs370874058	chr21:44827595-44827596	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs115742460	chr21:44827603-44827604	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs566814289	chr21:44827643-44827644	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs534209515	chr21:44827649-44827650	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs559275964	chr21:44827652-44827653	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs188467881	chr21:44827663-44827664	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs538436450	chr21:44827673-44827674	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs556756218	chr21:44827683-44827684	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs574941598	chr21:44827700-44827701	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs111560765	chr21:44827705-44827706	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs112341786	chr21:44827709-44827710	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs11702142	chr21:44827715-44827716	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs572763808	chr21:44827716-44827717	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs373647398	chr21:44827717-44827718	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs386819051	chr21:44827736-44827737	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs184309696	chr21:44827737-44827738	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs550353878	chr21:44827745-44827746	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs562663702	chr21:44827750-44827751	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs189121760	chr21:44827751-44827752	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs570626952	chr21:44827763-44827764	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs548637879	chr21:44827764-44827765	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs202106309	chr21:44827773-44827774	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs531647344	chr21:44827788-44827789	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs566884758	chr21:44827791-44827792	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs552083608	chr21:44827802-44827803	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs9984878	chr21:44827812-44827813	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs372107907	chr21:44827830-44827831	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs376769905	chr21:44827859-44827860	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs552648101	chr21:44827866-44827867	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs571148341	chr21:44827882-44827883	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs538499204	chr21:44827888-44827889	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs4280542	chr21:44827890-44827891	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs181928661	chr21:44827896-44827897	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs35939021	chr21:44827902-44827903	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs534378453	chr21:44827934-44827935	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs3072048	chr21:44827958-44827959	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs200811584	chr21:44827959-44827960	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs202063744	chr21:44827962-44827963	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs200812069	chr21:44827963-44827964	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs187432008	chr21:44827980-44827981	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs568246484	chr21:44827986-44827987	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs535687286	chr21:44828027-44828028	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs857552	chr21:44828031-44828032	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs572632291	chr21:44828080-44828081	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs539839943	chr21:44828081-44828082	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs564581168	chr21:44828086-44828087	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs553946223	chr21:44828100-44828101	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs59486384	chr21:44828133-44828134	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	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:674 , 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	chr21:44823000-44828800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr21:44823200-44829200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr21:44824000-44828800	Weak transcription	Brain Germinal Matrix	brain
14	chr21:44824200-44828200	Weak transcription	Primary B cells from cord blood	blood
15	chr21:44824200-44828800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr21:44824600-44829200	Weak transcription	Spleen	Spleen
17	chr21:44824800-44829000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr21:44825000-44829400	Weak transcription	Esophagus	oesophagus
19	chr21:44825000-44830400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr21:44825000-44831600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr21:44825000-44833200	Weak transcription	HSMMtube	muscle
22	chr21:44826000-44829200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr21:44826000-44835000	Weak transcription	Right Ventricle	heart
24	chr21:44826600-44827800	Enhancers	Fetal Intestine Small	intestine
25	chr21:44826600-44828400	Enhancers	HepG2	liver
26	chr21:44826800-44827600	Enhancers	Duodenum Mucosa	Duodenum
27	chr21:44826800-44827600	Enhancers	Fetal Intestine Large	intestine
28	chr21:44826800-44827800	Enhancers	Liver	Liver
29	chr21:44827200-44828800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr21:44827200-44830000	Enhancers	Primary B cells from peripheral blood	blood
31	chr21:44827600-44829400	Weak transcription	Duodenum Mucosa	Duodenum
32	chr21:44827600-44829600	Weak transcription	Fetal Intestine Large	intestine
33	chr21:44827800-44829600	Weak transcription	Fetal Intestine Small	intestine
34	chr21:44827800-44833800	Weak transcription	Liver	Liver
35	chr21:44828000-44834800	Enhancers	Fetal Muscle Leg	muscle
36	chr21:44828200-44830000	Enhancers	Primary B cells from cord blood	blood
37	chr21:44828400-44828600	Weak transcription	Fetal Thymus	thymus
38	chr21:44828400-44829200	Weak transcription	HepG2	liver
39	chr21:44828600-44828800	Weak transcription	Brain Anterior Caudate	brain
40	chr21:44828600-44829200	Enhancers	GM12878-XiMat	blood
41	chr21:44828600-44832800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
42	chr21:44828600-44834000	Weak transcription	Fetal Heart	heart
43	chr21:44828800-44829000	Enhancers	Brain Germinal Matrix	brain
44	chr21:44828800-44829200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr21:44828800-44829400	Bivalent Enhancer	Placenta	Placenta
46	chr21:44828800-44830200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr21:44829000-44829600	Weak transcription	Brain Germinal Matrix	brain
48	chr21:44829000-44830000	Enhancers	Primary T cells fromperipheralblood	blood
49	chr21:44829000-44832600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr21:44829000-44832800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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