Variant report

Variant	esv3409087
Chromosome Location	chr21:47233724-47237222
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	chr21:47230580..47232125-chr21:47237148..47240141,2	K562	blood:

Extended variants
information (count: 172 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:172 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185735461	chr21:47233731-47233732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs555132985	chr21:47233792-47233793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs578152225	chr21:47233815-47233816	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs4819152	chr21:47233827-47233828	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs548522514	chr21:47233837-47233838	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs568438054	chr21:47233845-47233846	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs188537453	chr21:47233857-47233858	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs577299625	chr21:47233866-47233867	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs139303909	chr21:47233882-47233883	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs547805815	chr21:47233903-47233904	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs76629441	chr21:47233965-47233966	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs76005755	chr21:47233977-47233978	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs568992087	chr21:47233992-47233993	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs115385619	chr21:47234029-47234030	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs144033196	chr21:47234036-47234037	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs147288970	chr21:47234081-47234082	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs547432803	chr21:47234125-47234126	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs201761187	chr21:47234183-47234184	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs200104534	chr21:47234200-47234201	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs62214600	chr21:47234201-47234202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200863536	chr21:47234205-47234206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs372613047	chr21:47234213-47234214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs62214601	chr21:47234230-47234231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs201686036	chr21:47234232-47234233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs62214603	chr21:47234235-47234236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368700554	chr21:47234269-47234270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs200025635	chr21:47234286-47234287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs201138809	chr21:47234307-47234308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs202242559	chr21:47234314-47234315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs375835029	chr21:47234320-47234321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs200307005	chr21:47234323-47234324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200828667	chr21:47234332-47234333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527654088	chr21:47234351-47234352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201802764	chr21:47234354-47234355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565645839	chr21:47234356-47234357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs200368979	chr21:47234361-47234362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539371504	chr21:47234364-47234365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs201050522	chr21:47234377-47234378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs201964515	chr21:47234384-47234385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs149346956	chr21:47234403-47234404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557327990	chr21:47234414-47234415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111213135	chr21:47234421-47234422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs199965879	chr21:47234446-47234447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531855468	chr21:47234465-47234466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200426190	chr21:47234476-47234477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372080481	chr21:47234478-47234479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201512317	chr21:47234500-47234501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569351654	chr21:47234511-47234512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199835947	chr21:47234530-47234531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200501045	chr21:47234536-47234537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:36)

Disease	PMID	Source
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	17899364	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	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 adenocarcinoma	17086460	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

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47217800-47260400	Weak transcription	Right Atrium	heart
2	chr21:47218000-47240200	Weak transcription	Pancreas	Pancrea
3	chr21:47221000-47236400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr21:47221200-47239800	Weak transcription	Spleen	Spleen
5	chr21:47224000-47239000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr21:47226800-47236800	Weak transcription	Fetal Thymus	thymus
7	chr21:47231400-47236800	Weak transcription	Thymus	Thymus
8	chr21:47233000-47234400	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr21:47233800-47234000	Active TSS	Fetal Kidney	kidney
10	chr21:47234000-47234200	Bivalent/Poised TSS	Fetal Kidney	kidney
11	chr21:47234400-47237200	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr21:47236000-47238200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr21:47236400-47236600	Enhancers	HSMM	muscle
14	chr21:47236400-47243800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr21:47236600-47238200	Weak transcription	HSMM	muscle
16	chr21:47236800-47237000	Genic enhancers	Thymus	Thymus
17	chr21:47236800-47237400	Enhancers	Fetal Thymus	thymus
18	chr21:47236800-47237600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr21:47237000-47237400	Strong transcription	Thymus	Thymus
20	chr21:47237000-47237600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr21:47237200-47237400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr21:47237200-47237400	Enhancers	Fetal Kidney	kidney
23	chr21:47237200-47237400	Bivalent Enhancer	HepG2	liver
24	chr21:47237200-47237600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr21:47237200-47238600	Enhancers	NH-A	brain
26	chr21:47237200-47241200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr21:47237200-47241400	Enhancers	Primary neutrophils fromperipheralblood	blood

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