Variant report

Variant	esv3358213
Chromosome Location	chr21:17839155-17839573
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544907170	chr21:17839190-17839191	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs73368504	chr21:17839203-17839204	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs527610616	chr21:17839299-17839300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183472608	chr21:17839308-17839309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567158470	chr21:17839322-17839323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529681468	chr21:17839332-17839333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2823825	chr21:17839336-17839337	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs146576195	chr21:17839352-17839353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141300286	chr21:17839390-17839391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73368506	chr21:17839401-17839402	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs187756180	chr21:17839422-17839423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571766555	chr21:17839423-17839424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs117997807	chr21:17839437-17839438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs73891594	chr21:17839464-17839465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375396812	chr21:17839470-17839471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538231314	chr21:17839487-17839488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574385875	chr21:17839490-17839491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543074558	chr21:17839493-17839494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138042999	chr21:17839497-17839498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576623471	chr21:17839542-17839543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs144950458	chr21:17839555-17839556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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	20409316	CNVD
Gastric cancer	18160780	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17829000-17843600	Weak transcription	Brain Hippocampus Middle	brain
2	chr21:17830200-17842200	Weak transcription	Psoas Muscle	Psoas
3	chr21:17830400-17845600	Weak transcription	Right Atrium	heart
4	chr21:17835400-17846400	Weak transcription	Left Ventricle	heart
5	chr21:17836400-17846200	Weak transcription	Fetal Muscle Leg	muscle
6	chr21:17836800-17848400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr21:17836800-17848600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr21:17837000-17840000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr21:17837400-17848800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr21:17838000-17846200	Weak transcription	Ovary	ovary
11	chr21:17838000-17850200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr21:17838800-17839400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr21:17839000-17839200	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
14	chr21:17839200-17840400	Enhancers	HUVEC	blood vessel
15	chr21:17839200-17841000	Enhancers	Osteobl	bone
16	chr21:17839200-17841400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr21:17839400-17843200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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