Variant report

Variant	esv2594506
Chromosome Location	chr21:46401031-46402829
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45759332..45762202-chr21:46401105..46402631,2	K562	blood:
2	chr21:46402184..46405162-chr21:46924152..46926827,2	K562	blood:
3	chr21:46402082..46405824-chr21:46407367..46410963,5	K562	blood:
4	chr21:46395684..46402043-chr21:46492415..46498561,16	K562	blood:
5	chr21:46399144..46400887-chr21:46402281..46403943,2	MCF-7	breast:
6	chr21:46398654..46417262-chr21:46491498..46498908,48	K562	blood:
7	chr21:46401222..46403244-chr21:46420854..46422539,2	MCF-7	breast:
8	chr21:46288437..46290185-chr21:46399908..46402286,2	MCF-7	breast:
9	chr21:46392385..46395500-chr21:46401098..46402764,3	MCF-7	breast:
10	chr21:46402401..46405520-chr21:46493172..46497205,9	K562	blood:
11	chr21:46361267..46363821-chr21:46400005..46402889,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000160256	chromatin interactions
ENSG00000268856	chromatin interactions
ENSG00000197381	chromatin interactions
ENSG00000182871	chromatin interactions
ENSG00000235374	chromatin interactions

Extended variants
information (count: 162 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:162 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563248167	chr21:46401031-46401032	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs531157166	chr21:46401044-46401045	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs542905118	chr21:46401073-46401074	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs184296621	chr21:46401088-46401089	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs528642506	chr21:46401115-46401116	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs914200	chr21:46401128-46401129	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs914201	chr21:46401139-46401140	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs142234297	chr21:46401149-46401150	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs189992125	chr21:46401157-46401158	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs914202	chr21:46401167-46401168	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs537375165	chr21:46401168-46401169	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs560897352	chr21:46401174-46401175	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs549274867	chr21:46401177-46401178	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs567537456	chr21:46401190-46401191	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs371914598	chr21:46401195-46401196	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs148586515	chr21:46401220-46401221	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs577667047	chr21:46401222-46401223	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs914203	chr21:46401232-46401233	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs540200618	chr21:46401244-46401245	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs556722732	chr21:46401248-46401249	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs575163041	chr21:46401280-46401281	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs542944003	chr21:46401291-46401292	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs561270493	chr21:46401293-46401294	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs573167914	chr21:46401310-46401311	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs73226664	chr21:46401312-46401313	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs116124242	chr21:46401337-46401338	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs141128915	chr21:46401338-46401339	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs546197080	chr21:46401353-46401354	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs551036163	chr21:46401368-46401369	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs562767054	chr21:46401377-46401378	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs530137056	chr21:46401395-46401396	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs117725131	chr21:46401396-46401397	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs114772257	chr21:46401412-46401413	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs534866904	chr21:46401423-46401424	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs558566046	chr21:46401446-46401447	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs368829831	chr21:46401447-46401448	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs546524330	chr21:46401449-46401450	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs571411361	chr21:46401451-46401452	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs538390515	chr21:46401462-46401463	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs150722532	chr21:46401474-46401475	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs111621022	chr21:46401482-46401483	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs13047822	chr21:46401499-46401500	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs563328485	chr21:46401508-46401509	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs13048254	chr21:46401540-46401541	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs9981181	chr21:46401560-46401561	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs200653939	chr21:46401561-46401562	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs9980582	chr21:46401575-46401576	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs535861833	chr21:46401581-46401582	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs576881040	chr21:46401595-46401596	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs9980585	chr21:46401596-46401597	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
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
small cell lung cancer	17426248	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Aortic dissecting aneurysms	22263138	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:168 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46380200-46402600	Weak transcription	Aorta	Aorta
2	chr21:46382800-46404800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr21:46385000-46401400	Strong transcription	Thymus	Thymus
4	chr21:46390200-46403200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr21:46390200-46406400	Weak transcription	Brain Anterior Caudate	brain
6	chr21:46390400-46402600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr21:46390400-46402600	Weak transcription	HUVEC	blood vessel
8	chr21:46390400-46402800	Weak transcription	Osteobl	bone
9	chr21:46390400-46408600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr21:46390600-46402800	Weak transcription	NHLF	lung
11	chr21:46391000-46402600	Weak transcription	A549	lung
12	chr21:46391000-46403600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr21:46391200-46402800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr21:46391800-46402600	Weak transcription	Fetal Brain Male	brain
15	chr21:46392200-46402600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr21:46393000-46402600	Weak transcription	Ovary	ovary
17	chr21:46393000-46409200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr21:46393200-46401200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr21:46393200-46402400	Weak transcription	NH-A	brain
20	chr21:46394400-46402400	Weak transcription	Hela-S3	cervix
21	chr21:46395200-46411400	Weak transcription	Liver	Liver
22	chr21:46395400-46404000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr21:46395600-46402800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr21:46395600-46403000	Weak transcription	Fetal Thymus	thymus
25	chr21:46395800-46402600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr21:46396000-46401400	Weak transcription	Pancreas	Pancrea
27	chr21:46396600-46402400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr21:46396600-46402400	Weak transcription	Left Ventricle	heart
29	chr21:46396600-46402400	Weak transcription	HSMMtube	muscle
30	chr21:46397000-46402200	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr21:46397000-46402400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr21:46397000-46411400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr21:46397200-46401600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr21:46397200-46402400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr21:46397200-46403400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr21:46397200-46404400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr21:46397200-46404400	Weak transcription	Brain Hippocampus Middle	brain
38	chr21:46397400-46401400	Weak transcription	Primary T cells from cord blood	blood
39	chr21:46397400-46404200	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr21:46397600-46405000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr21:46397800-46401400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr21:46397800-46402800	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr21:46397800-46404400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr21:46397800-46407400	Weak transcription	Rectal Smooth Muscle	rectum
45	chr21:46398000-46402400	Weak transcription	Placenta	Placenta
46	chr21:46398000-46402600	Weak transcription	NHEK	skin
47	chr21:46398000-46404000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr21:46398000-46409000	Weak transcription	Primary B cells from peripheral blood	blood
49	chr21:46398200-46401400	Weak transcription	Fetal Intestine Large	intestine
50	chr21:46398200-46401600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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