Variant report

Variant	nsv3458
Chromosome Location	chr21:16597875-16604730
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:16431111..16433395-chr21:16603127..16605498,2	MCF-7	breast:
2	chr21:16436681..16438787-chr21:16597853..16600454,2	MCF-7	breast:
3	chr21:16592572..16594145-chr21:16598966..16600657,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180530	chromatin interactions

Extended variants
information (count: 362 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:362 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563964350	chr21:16597883-16597884	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs71183460	chr21:16597884-16597885	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs533252015	chr21:16597910-16597911	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs565798124	chr21:16597921-16597922	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs562609728	chr21:16597931-16597932	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs200391634	chr21:16597947-16597948	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs186475427	chr21:16597948-16597949	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs554610924	chr21:16598018-16598019	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs574673336	chr21:16598038-16598039	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs543674334	chr21:16598039-16598040	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs556672883	chr21:16598067-16598068	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs148924151	chr21:16598073-16598074	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs545039353	chr21:16598100-16598101	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs565290981	chr21:16598119-16598120	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs143844028	chr21:16598132-16598133	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs377070016	chr21:16598171-16598172	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs192111687	chr21:16598182-16598183	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs151114154	chr21:16598188-16598189	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs530211052	chr21:16598218-16598219	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs145111699	chr21:16598234-16598235	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs569378853	chr21:16598276-16598277	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs9980378	chr21:16598284-16598285	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs368847285	chr21:16598291-16598292	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs551842759	chr21:16598318-16598319	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs35773038	chr21:16598333-16598334	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs2823176	chr21:16598340-16598341	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs182286645	chr21:16598354-16598355	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs138930532	chr21:16598422-16598423	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs35518191	chr21:16598424-16598425	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs568390686	chr21:16598445-16598446	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs535608949	chr21:16598485-16598486	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs537213833	chr21:16598504-16598505	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs549203366	chr21:16598514-16598515	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs2823177	chr21:16598540-16598541	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs576565619	chr21:16598580-16598581	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs142491964	chr21:16598776-16598777	Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs558825563	chr21:16598845-16598846	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs572389911	chr21:16598869-16598870	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs541097110	chr21:16598878-16598879	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs566291798	chr21:16598879-16598880	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs12627107	chr21:16598891-16598892	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs77986752	chr21:16598898-16598899	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs574810665	chr21:16598912-16598913	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs111808846	chr21:16598919-16598920	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs80288554	chr21:16598973-16598974	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs541021885	chr21:16598981-16598982	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs186081977	chr21:16599044-16599045	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs150108400	chr21:16599136-16599137	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs111482295	chr21:16599164-16599165	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs67459986	chr21:16599168-16599169	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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	22522925	CNVD
Breast cancer	20409316	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16593800-16598000	Enhancers	HMEC	breast
2	chr21:16597600-16612200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr21:16598600-16598800	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr21:16601800-16602200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr21:16601800-16602400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr21:16604000-16604600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr21:16604600-16606200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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