Variant report

Variant	esv3411056
Chromosome Location	chr21:15468281-15472679
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 197 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:197 , 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	rs182363779	chr21:15468303-15468304	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs566080277	chr21:15468314-15468315	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528752349	chr21:15468350-15468351	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187029468	chr21:15468365-15468366	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372072466	chr21:15468396-15468397	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs8126892	chr21:15468401-15468402	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs550582013	chr21:15468404-15468405	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557139124	chr21:15468421-15468422	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570832450	chr21:15468427-15468428	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546700760	chr21:15468475-15468476	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532762040	chr21:15468476-15468477	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539402770	chr21:15468491-15468492	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553399501	chr21:15468505-15468506	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs7276925	chr21:15468576-15468577	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs541317872	chr21:15468577-15468578	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7275860	chr21:15468605-15468606	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs565723877	chr21:15468608-15468609	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543514470	chr21:15468620-15468621	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7276946	chr21:15468627-15468628	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs7275968	chr21:15468642-15468643	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs190371641	chr21:15468652-15468653	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs140358069	chr21:15468686-15468687	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7281456	chr21:15468714-15468715	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs548443265	chr21:15468775-15468776	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568328708	chr21:15468783-15468784	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536944894	chr21:15468805-15468806	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551054753	chr21:15468810-15468811	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570902719	chr21:15468812-15468813	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539912270	chr21:15468819-15468820	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7276296	chr21:15468865-15468866	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs145453296	chr21:15468922-15468923	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7276424	chr21:15468932-15468933	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs554864247	chr21:15468964-15468965	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs538973356	chr21:15468970-15468971	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576930284	chr21:15468988-15468989	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs374152591	chr21:15469066-15469067	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574579573	chr21:15469111-15469112	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs375306475	chr21:15469115-15469116	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369853182	chr21:15469118-15469119	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs183429583	chr21:15469132-15469133	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7281918	chr21:15469182-15469183	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs572535336	chr21:15469239-15469240	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576902028	chr21:15469245-15469246	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs114654832	chr21:15469264-15469265	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558948626	chr21:15469287-15469288	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs62208600	chr21:15469288-15469289	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs542129099	chr21:15469309-15469310	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188831521	chr21:15469326-15469327	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561447296	chr21:15469332-15469333	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs146478936	chr21:15469353-15469354	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
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
Sudden cardiac death	19188705	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell lymphomas	19863542	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
Acute lymphoblastic leukemia	21980252	CNVD
Metanephric adenoma	20802469	CNVD
Neuroblastoma	18923191	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	20409316	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute myeloid leukemia	21251322	CNVD
abnormal development	18461090	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	18923514	CNVD
Alzheimer''s disease	20877625	CNVD
Follicular lymphoma	20505157	CNVD
Alzheimer''s disease	21956041	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15441000-15470200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr21:15444200-15475400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr21:15455800-15479800	Weak transcription	Colon Smooth Muscle	Colon
4	chr21:15456000-15470000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr21:15456800-15470200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr21:15457600-15470000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr21:15457600-15470200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr21:15457600-15470200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr21:15457600-15470200	Weak transcription	Adipose Nuclei	Adipose
10	chr21:15457600-15470200	Weak transcription	Esophagus	oesophagus
11	chr21:15457600-15472800	Weak transcription	Fetal Muscle Leg	muscle
12	chr21:15457600-15473800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr21:15457600-15487400	Weak transcription	Fetal Brain Male	brain
14	chr21:15457800-15486200	Weak transcription	Thymus	Thymus
15	chr21:15459600-15469000	Weak transcription	Brain Germinal Matrix	brain
16	chr21:15459800-15470200	Weak transcription	Ovary	ovary
17	chr21:15460000-15470200	Weak transcription	Fetal Lung	lung
18	chr21:15461000-15470200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr21:15462400-15471400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr21:15463200-15470200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr21:15463200-15472200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr21:15463400-15470200	Weak transcription	Gastric	stomach
23	chr21:15464400-15470200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr21:15464600-15469800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr21:15464600-15470000	Weak transcription	Fetal Brain Female	brain
26	chr21:15464600-15470200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr21:15464800-15470200	Weak transcription	K562	blood
28	chr21:15465800-15469800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr21:15465800-15475400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr21:15466000-15468800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr21:15466000-15474800	Weak transcription	Fetal Stomach	stomach
32	chr21:15466200-15468600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr21:15467400-15469400	Enhancers	GM12878-XiMat	blood
34	chr21:15467600-15470800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr21:15467600-15477000	Strong transcription	Dnd41	blood
36	chr21:15467800-15470200	Weak transcription	Brain Angular Gyrus	brain
37	chr21:15468000-15468400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr21:15468000-15468400	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr21:15468000-15469400	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr21:15468000-15469800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr21:15468000-15472200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr21:15468000-15475400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr21:15468000-15477000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr21:15468200-15469200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr21:15468200-15470200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr21:15468200-15470400	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr21:15468200-15475200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr21:15468400-15470800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr21:15468400-15475200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr21:15468600-15470200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links