Variant report

Variant	nsv962648
Chromosome Location	chr21:17222801-17227895
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:17220358..17222293-chr21:17224213..17226942,2	MCF-7	breast:
2	chr21:17118340..17121294-chr21:17222829..17224563,2	MCF-7	breast:
3	chr21:17220840..17222418-chr21:17227807..17229346,2	K562	blood:

Extended variants
information (count: 212 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:212 , 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	rs555849651	chr21:17222962-17222963	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370620423	chr21:17222969-17222970	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141843580	chr21:17223031-17223032	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs59764941	chr21:17223059-17223060	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs13052256	chr21:17223073-17223074	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs182415107	chr21:17223080-17223081	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572232277	chr21:17223113-17223114	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534887092	chr21:17223136-17223137	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565177399	chr21:17223179-17223180	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554492279	chr21:17223201-17223202	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574638504	chr21:17223203-17223204	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543153724	chr21:17223214-17223215	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562961717	chr21:17223259-17223260	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527526690	chr21:17223266-17223267	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150206198	chr21:17223280-17223281	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545051354	chr21:17223286-17223287	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs35328917	chr21:17223296-17223297	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs578170307	chr21:17223332-17223333	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565606184	chr21:17223377-17223378	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138800559	chr21:17223380-17223381	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148853372	chr21:17223385-17223386	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548041324	chr21:17223388-17223389	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541212667	chr21:17223409-17223410	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561145658	chr21:17223414-17223415	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149387445	chr21:17223458-17223459	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556577332	chr21:17223460-17223461	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569407223	chr21:17223472-17223473	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369256663	chr21:17223509-17223510	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75641617	chr21:17223511-17223512	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147188422	chr21:17223555-17223556	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551903495	chr21:17223600-17223601	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113410603	chr21:17223616-17223617	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs73892557	chr21:17223644-17223645	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs79951422	chr21:17223689-17223690	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs377765645	chr21:17223718-17223719	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574727630	chr21:17223741-17223742	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs75727826	chr21:17223748-17223749	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188292945	chr21:17223781-17223782	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs77204174	chr21:17223784-17223785	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192526588	chr21:17223789-17223790	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs565157135	chr21:17223819-17223820	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541065727	chr21:17223822-17223823	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs60234053	chr21:17223823-17223824	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs145303261	chr21:17223834-17223835	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10595077	chr21:17223845-17223846	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs185464102	chr21:17223846-17223847	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs574050831	chr21:17223852-17223853	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541366790	chr21:17223915-17223916	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs142863330	chr21:17223925-17223926	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549366379	chr21:17223989-17223990	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Epilepsy	20502679	CNVD
22q11.2 microdeletion syndrome	19750312	CNVD
Breast cancer	20409316	CNVD

Chromatin state (count:200 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17155200-17252800	Weak transcription	Fetal Brain Male	brain
2	chr21:17178400-17248200	Weak transcription	Esophagus	oesophagus
3	chr21:17178400-17252800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr21:17182400-17227800	Weak transcription	Psoas Muscle	Psoas
5	chr21:17188000-17229400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr21:17188000-17240200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr21:17188200-17246800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr21:17188400-17247200	Weak transcription	Ovary	ovary
9	chr21:17188400-17253200	Weak transcription	Fetal Brain Female	brain
10	chr21:17188800-17247000	Weak transcription	Brain Germinal Matrix	brain
11	chr21:17188800-17252600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr21:17190200-17245400	Weak transcription	Lung	lung
13	chr21:17190200-17247200	Weak transcription	Pancreas	Pancrea
14	chr21:17190400-17247200	Weak transcription	Spleen	Spleen
15	chr21:17190400-17247400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr21:17191000-17227800	Weak transcription	Colonic Mucosa	Colon
17	chr21:17194200-17228000	Weak transcription	Small Intestine	intestine
18	chr21:17198000-17248000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr21:17199800-17246800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr21:17199800-17247200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr21:17200800-17245200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr21:17201200-17230200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr21:17201400-17245400	Weak transcription	Fetal Stomach	stomach
24	chr21:17204400-17239000	Weak transcription	Brain Substantia Nigra	brain
25	chr21:17204400-17246400	Weak transcription	Brain Angular Gyrus	brain
26	chr21:17204400-17246800	Weak transcription	Brain Anterior Caudate	brain
27	chr21:17204600-17229200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr21:17204600-17230200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr21:17204600-17247800	Weak transcription	HepG2	liver
30	chr21:17204600-17252800	Weak transcription	Brain Hippocampus Middle	brain
31	chr21:17207600-17229600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr21:17210400-17228600	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr21:17210400-17252600	Weak transcription	Aorta	Aorta
34	chr21:17210600-17239000	Weak transcription	Stomach Smooth Muscle	stomach
35	chr21:17210600-17245400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr21:17210600-17247200	Weak transcription	Rectal Smooth Muscle	rectum
37	chr21:17211000-17245400	Weak transcription	Fetal Intestine Small	intestine
38	chr21:17211000-17246600	Weak transcription	Colon Smooth Muscle	Colon
39	chr21:17211600-17227800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr21:17213600-17227800	Weak transcription	GM12878-XiMat	blood
41	chr21:17214200-17245400	Weak transcription	Gastric	stomach
42	chr21:17214600-17237800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr21:17215000-17226600	Weak transcription	Primary T cells from cord blood	blood
44	chr21:17215000-17236600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr21:17215000-17240600	Weak transcription	Fetal Muscle Leg	muscle
46	chr21:17215000-17240600	Weak transcription	HSMMtube	muscle
47	chr21:17215000-17245200	Weak transcription	Fetal Kidney	kidney
48	chr21:17215000-17245400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr21:17215200-17224000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr21:17215200-17226400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links