Variant report

Variant	esv3437872
Chromosome Location	chr21:46478024-46479322
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	chr21:46473847..46475592-chr21:46476375..46478066,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C21orf67-5	chr21:46478093-46478164	XLOC_014122

Extended variants
information (count: 36 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185323268	chr21:46478057-46478058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs79478447	chr21:46478067-46478068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149111370	chr21:46478078-46478079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190033337	chr21:46478103-46478104	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs566848417	chr21:46478118-46478119	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs182251112	chr21:46478138-46478139	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs370396783	chr21:46478185-46478186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73382614	chr21:46478233-46478234	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs552535421	chr21:46478245-46478246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143160218	chr21:46478369-46478370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187290968	chr21:46478425-46478426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538005946	chr21:46478440-46478441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573266574	chr21:46478525-46478526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200100591	chr21:46478529-46478530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113501678	chr21:46478530-46478531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201682632	chr21:46478533-46478534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374779414	chr21:46478684-46478685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111886341	chr21:46478685-46478686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574951155	chr21:46478706-46478707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535886639	chr21:46478727-46478728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554187020	chr21:46478752-46478753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568809498	chr21:46478753-46478754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540512368	chr21:46478758-46478759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372502123	chr21:46478859-46478860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571163562	chr21:46478860-46478861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375380752	chr21:46478964-46478965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111961334	chr21:46478965-46478966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147838157	chr21:46478997-46478998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533884373	chr21:46479032-46479033	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs143854813	chr21:46479033-46479034	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs541467999	chr21:46479082-46479083	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs77373347	chr21:46479127-46479128	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs374817829	chr21:46479172-46479173	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs552837027	chr21:46479174-46479175	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs150410088	chr21:46479239-46479240	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs73382618	chr21:46479286-46479287	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:98)

Disease	PMID	Source
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 lymphoblastic leukemia	20435627	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
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	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
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Ewing''s sarcoma	21437220	CNVD
Lung adenocarcinoma	17086460	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute myeloid leukemia	21358987	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	23341502	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Cholangiocarcinoma	16830362	CNVD
Down syndrome	17334655	CNVD
Neuroticism	17667963	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Autoimmune polyendocrine syndrome	18200029	CNVD
Prostate cancer	19363497	CNVD
Lung cancer	17086460	CNVD
Olfactory neuroblastoma	18408657	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Multiple myeloma	16616336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	17426248	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46471600-46484200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr21:46471800-46480200	Weak transcription	Lung	lung
3	chr21:46475200-46478200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr21:46475200-46493400	Weak transcription	Right Atrium	heart
5	chr21:46475400-46493200	Weak transcription	Spleen	Spleen
6	chr21:46476400-46479200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr21:46476600-46480400	Weak transcription	Fetal Lung	lung
8	chr21:46477200-46478200	Weak transcription	Right Ventricle	heart
9	chr21:46477800-46478400	Enhancers	Fetal Brain Male	brain
10	chr21:46478000-46478200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr21:46478200-46484000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr21:46479000-46479400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr21:46479200-46479400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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