Variant report

Variant	esv3345596
Chromosome Location	chr21:45001684-45002177
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:44936672..44939278-chr21:45002074..45004794,2	MCF-7	breast:
2	chr21:45000029..45003162-chr21:45004279..45008488,5	MCF-7	breast:
3	chr21:44999342..45002194-chr21:45002710..45005650,3	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201542766	chr21:45001703-45001704	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs199678069	chr21:45001731-45001732	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs73908336	chr21:45001736-45001737	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs573007637	chr21:45001757-45001758	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs376793325	chr21:45001760-45001761	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs368520950	chr21:45001776-45001777	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs540091527	chr21:45001779-45001780	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs12626629	chr21:45001788-45001789	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs564717513	chr21:45001791-45001792	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs12627219	chr21:45001800-45001801	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs12626917	chr21:45001801-45001802	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs12626919	chr21:45001808-45001809	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs532520072	chr21:45001813-45001814	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs12626631	chr21:45001814-45001815	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs544293189	chr21:45001818-45001819	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs12627618	chr21:45001834-45001835	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs562552335	chr21:45001854-45001855	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs529997235	chr21:45001864-45001865	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs370890398	chr21:45001887-45001888	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs34691989	chr21:45001909-45001910	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs34594722	chr21:45001918-45001919	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs375711334	chr21:45001926-45001927	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs368424702	chr21:45001932-45001933	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs539913472	chr21:45001990-45001991	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs35389083	chr21:45001992-45001993	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs2005295	chr21:45001993-45001994	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs2005296	chr21:45001994-45001995	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs34035973	chr21:45001995-45001996	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs2005297	chr21:45002001-45002002	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2005298	chr21:45002013-45002014	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113196833	chr21:45002059-45002060	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576316093	chr21:45002109-45002110	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111837173	chr21:45002133-45002134	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Breast cancer	21364760	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Prostate cancer	18632612	CNVD
Neuroblastoma	20406844	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
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	17142309	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44987200-45005000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr21:44987200-45005000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr21:44992400-45004200	Weak transcription	Right Atrium	heart
4	chr21:44995000-45002000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr21:44995000-45005400	Weak transcription	Ovary	ovary
6	chr21:44995000-45024200	Weak transcription	Fetal Brain Male	brain
7	chr21:44995200-45006000	Weak transcription	Spleen	Spleen
8	chr21:44996200-45005800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr21:44998200-45001800	Enhancers	Fetal Lung	lung
10	chr21:44998200-45002400	Enhancers	Fetal Stomach	stomach
11	chr21:44998600-45006000	Weak transcription	Gastric	stomach
12	chr21:44999200-45005800	Weak transcription	Stomach Mucosa	stomach
13	chr21:44999600-45005000	Weak transcription	HSMM	muscle
14	chr21:44999600-45005800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr21:45000000-45004600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr21:45000000-45005000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr21:45000000-45005200	Weak transcription	HSMMtube	muscle
18	chr21:45000400-45005200	Weak transcription	Pancreas	Pancrea
19	chr21:45000800-45003600	Weak transcription	Right Ventricle	heart
20	chr21:45001400-45001800	Enhancers	Fetal Thymus	thymus
21	chr21:45001400-45002000	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr21:45001400-45002200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr21:45001400-45002400	Enhancers	Fetal Muscle Leg	muscle
24	chr21:45001600-45002000	Enhancers	Placenta	Placenta
25	chr21:45001600-45002200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr21:45001600-45002200	Enhancers	Fetal Muscle Trunk	muscle
27	chr21:45001600-45002400	Enhancers	Lung	lung
28	chr21:45001800-45002400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr21:45001800-45005400	Weak transcription	Fetal Lung	lung
30	chr21:45001800-45005800	Weak transcription	Fetal Thymus	thymus
31	chr21:45002000-45002400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr21:45002000-45005200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr21:45002000-45005200	Weak transcription	Placenta	Placenta

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