Variant report

Variant	esv1804132
Chromosome Location	chr21:15620695-15628155
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:15618985..15621962-chr21:15624169..15625950,3	K562	blood:
2	chr21:15618985..15621962-chr21:15624169..15625950,3	K562	blood:
3	chr21:15616597..15618358-chr21:15624634..15626645,2	K562	blood:

Extended variants
information (count: 217 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:217 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531624337	chr21:15623211-15623212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs374616702	chr21:15623238-15623239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs111567314	chr21:15623253-15623254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551331397	chr21:15623261-15623262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571374720	chr21:15623262-15623263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533652381	chr21:15623268-15623269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375032222	chr21:15623271-15623272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192385809	chr21:15623292-15623293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149354098	chr21:15623297-15623298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535631466	chr21:15623311-15623312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535874966	chr21:15623330-15623331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556111867	chr21:15623348-15623349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2822510	chr21:15623441-15623442	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs4455241	chr21:15623452-15623453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183921977	chr21:15623511-15623512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144662268	chr21:15623531-15623532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558750126	chr21:15623536-15623537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572640805	chr21:15623539-15623540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541557265	chr21:15623543-15623544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187116202	chr21:15623593-15623594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192085873	chr21:15623595-15623596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377468890	chr21:15623602-15623603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148083219	chr21:15623606-15623607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572284295	chr21:15623632-15623633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531512049	chr21:15623685-15623686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142030772	chr21:15623690-15623691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564753673	chr21:15623732-15623733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527455692	chr21:15623759-15623760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs17001628	chr21:15623776-15623777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567059606	chr21:15623826-15623827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529733513	chr21:15623878-15623879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549559623	chr21:15623905-15623906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569592507	chr21:15623924-15623925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538977528	chr21:15624048-15624049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs17001635	chr21:15624077-15624078	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs566352321	chr21:15624085-15624086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535266784	chr21:15624104-15624105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs447420	chr21:15624121-15624122	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs575032446	chr21:15624150-15624151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543850555	chr21:15624211-15624212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557088229	chr21:15624215-15624216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs425348	chr21:15624217-15624218	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs76771374	chr21:15624241-15624242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564864083	chr21:15624257-15624258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs114369258	chr21:15624269-15624270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540870876	chr21:15624285-15624286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs376178699	chr21:15624316-15624317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs80038165	chr21:15624325-15624326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184196086	chr21:15624340-15624341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549811928	chr21:15624353-15624354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15623200-15623400	Enhancers	Brain Substantia Nigra	brain
2	chr21:15623400-15626000	Weak transcription	Brain Substantia Nigra	brain
3	chr21:15623600-15624200	Enhancers	Brain Cingulate Gyrus	brain
4	chr21:15624000-15624200	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr21:15624000-15625000	Enhancers	Brain Hippocampus Middle	brain
6	chr21:15624200-15624400	Enhancers	Fetal Brain Male	brain
7	chr21:15624200-15625400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr21:15624400-15626000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr21:15625400-15625800	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr21:15625400-15626400	Enhancers	Brain Cingulate Gyrus	brain
11	chr21:15626000-15626200	Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr21:15626000-15626200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr21:15626000-15626200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr21:15626000-15626200	Active TSS	Brain Substantia Nigra	brain
15	chr21:15626000-15626200	Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr21:15626000-15626200	Active TSS	Dnd41	blood
17	chr21:15626000-15626200	Active TSS	Monocytes-CD14+_RO01746	blood
18	chr21:15626000-15626400	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr21:15626000-15626400	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr21:15626000-15626400	Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr21:15626000-15626800	Enhancers	Duodenum Mucosa	Duodenum
22	chr21:15626200-15626400	Enhancers	H9 Cell Line	embryonic stem cell
23	chr21:15626200-15626400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr21:15626200-15626400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr21:15626200-15626400	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr21:15626200-15626400	Enhancers	Primary T cells from cord blood	blood
27	chr21:15626200-15626400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr21:15626200-15626400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr21:15626200-15626400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr21:15626200-15626400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr21:15626200-15626400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
32	chr21:15626200-15626400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
33	chr21:15626200-15626400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr21:15626200-15626400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr21:15626200-15626400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr21:15626200-15626400	Enhancers	Adipose Nuclei	Adipose
37	chr21:15626200-15626400	Flanking Active TSS	Liver	Liver
38	chr21:15626200-15626400	Enhancers	Brain Anterior Caudate	brain
39	chr21:15626200-15626400	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr21:15626200-15626400	Flanking Active TSS	Brain Substantia Nigra	brain
41	chr21:15626200-15626400	Enhancers	Fetal Muscle Leg	muscle
42	chr21:15626200-15626400	Flanking Active TSS	Ovary	ovary
43	chr21:15626200-15626400	Enhancers	Pancreas	Pancrea
44	chr21:15626200-15626400	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr21:15626200-15626400	Enhancers	Right Atrium	heart
46	chr21:15626200-15626400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr21:15626200-15626400	Flanking Active TSS	Dnd41	blood
48	chr21:15626200-15626400	Enhancers	Hela-S3	cervix
49	chr21:15626200-15626400	Enhancers	HUVEC	blood vessel
50	chr21:15626200-15626400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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