Variant report

Variant	esv3449026
Chromosome Location	chr21:16262081-16265479
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	chr21:16253232..16256075-chr21:16260116..16262916,2	MCF-7	breast:
2	chr21:16264262..16266414-chr21:16269227..16271133,2	K562	blood:

Variant related genes	Relation type
ENSG00000235609	chromatin interactions

Extended variants
information (count: 105 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550931291	chr21:16262092-16262093	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs570726681	chr21:16262155-16262156	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs187523973	chr21:16262157-16262158	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs140756907	chr21:16262158-16262159	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs547995795	chr21:16262192-16262193	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs535164439	chr21:16262233-16262234	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs373641551	chr21:16262253-16262254	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs192993040	chr21:16262262-16262263	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs568349054	chr21:16262306-16262307	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs377591614	chr21:16262501-16262502	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs557254760	chr21:16262651-16262652	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs548202288	chr21:16262666-16262667	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs575133623	chr21:16262672-16262673	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs540330882	chr21:16262727-16262728	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs185241360	chr21:16262765-16262766	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs35717589	chr21:16262774-16262775	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs190527297	chr21:16262777-16262778	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs545491923	chr21:16262880-16262881	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs552973596	chr21:16262944-16262945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572751033	chr21:16263154-16263155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73895207	chr21:16263170-16263171	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs553679425	chr21:16263171-16263172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568254821	chr21:16263191-16263192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs193233122	chr21:16263207-16263208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111754513	chr21:16263225-16263226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564379883	chr21:16263308-16263309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs537396051	chr21:16263344-16263345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150098746	chr21:16263384-16263385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs370295570	chr21:16263411-16263412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2822973	chr21:16263419-16263420	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs2822974	chr21:16263440-16263441	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs114355335	chr21:16263460-16263461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550855605	chr21:16263479-16263480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548291141	chr21:16263484-16263485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370963406	chr21:16263531-16263532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548542313	chr21:16263541-16263542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183694566	chr21:16263553-16263554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148760343	chr21:16263614-16263615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34437663	chr21:16263615-16263616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112880025	chr21:16263630-16263631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200755552	chr21:16263719-16263720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201330128	chr21:16263758-16263759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565382061	chr21:16263794-16263795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537252908	chr21:16263817-16263818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561270585	chr21:16263848-16263849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188017498	chr21:16263895-16263896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559278950	chr21:16263960-16263961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571207250	chr21:16263992-16263993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200179426	chr21:16264001-16264002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567597933	chr21:16264110-16264111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16249200-16264600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr21:16259400-16262200	Enhancers	Liver	Liver
3	chr21:16259400-16262600	Enhancers	Fetal Intestine Small	intestine
4	chr21:16259600-16262800	Enhancers	Fetal Intestine Large	intestine
5	chr21:16260000-16262200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr21:16260000-16264600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr21:16260600-16262600	Enhancers	HMEC	breast
8	chr21:16261000-16262200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr21:16261000-16262400	Enhancers	Osteobl	bone
10	chr21:16261200-16262600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr21:16261200-16263400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr21:16261400-16263000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr21:16261400-16267000	Weak transcription	Fetal Muscle Leg	muscle
14	chr21:16261600-16262200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr21:16261800-16262200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr21:16261800-16265200	Weak transcription	Dnd41	blood
17	chr21:16262000-16262800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr21:16262000-16263000	Enhancers	HepG2	liver
19	chr21:16262000-16263400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr21:16262000-16284200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr21:16262200-16262800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr21:16264600-16264800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr21:16264600-16265000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr21:16264600-16265000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr21:16264800-16265800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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