Variant report

Variant	esv12053
Chromosome Location	chr21:16678132-16678599
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:16435856..16438455-chr21:16677252..16679908,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180530	chromatin interactions

Extended variants
information (count: 30 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11088345	chr21:16678143-16678144	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536040710	chr21:16678144-16678145	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs368284648	chr21:16678158-16678159	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs546332562	chr21:16678162-16678163	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs559531308	chr21:16678177-16678178	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs2823219	chr21:16678179-16678180	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs8129703	chr21:16678182-16678183	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs567846133	chr21:16678188-16678189	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs575688497	chr21:16678199-16678200	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs530488831	chr21:16678205-16678206	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs146740838	chr21:16678211-16678212	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs570677413	chr21:16678227-16678228	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs114864799	chr21:16678262-16678263	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs553343028	chr21:16678265-16678266	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs566668465	chr21:16678266-16678267	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs79257226	chr21:16678278-16678279	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs555085316	chr21:16678317-16678318	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs2178904	chr21:16678322-16678323	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs543772369	chr21:16678335-16678336	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs564353327	chr21:16678341-16678342	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs557081945	chr21:16678353-16678354	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs188905760	chr21:16678392-16678393	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs546172861	chr21:16678440-16678441	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs370795664	chr21:16678464-16678465	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs559668657	chr21:16678482-16678483	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs59284132	chr21:16678507-16678508	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs140337900	chr21:16678516-16678517	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs374724770	chr21:16678542-16678543	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs181929044	chr21:16678576-16678577	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs530521783	chr21:16678593-16678594	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16674000-16680800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr21:16674400-16680800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr21:16674600-16678400	Weak transcription	Psoas Muscle	Psoas
4	chr21:16675400-16680600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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