Variant report

Variant	esv3446424
Chromosome Location	chr20:22796652-22798600
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	chr20:22791420..22794009-chr20:22795850..22798324,2	MCF-7	breast:

Extended variants
information (count: 90 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558936549	chr20:22796662-22796663	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs575289560	chr20:22796674-22796675	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs544258127	chr20:22796718-22796719	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs560736180	chr20:22796733-22796734	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs116921528	chr20:22796758-22796759	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs139048906	chr20:22796762-22796763	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs199622686	chr20:22796765-22796766	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs116497443	chr20:22796783-22796784	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs532615618	chr20:22796790-22796791	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs541905218	chr20:22796801-22796802	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs112732458	chr20:22796810-22796811	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs575548066	chr20:22796825-22796826	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs531900984	chr20:22796826-22796827	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs548537029	chr20:22796859-22796860	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs183099001	chr20:22796891-22796892	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs527743678	chr20:22796918-22796919	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs547612788	chr20:22796928-22796929	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs566653837	chr20:22796930-22796931	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs6106562	chr20:22796944-22796945	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs11087400	chr20:22796990-22796991	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs377072470	chr20:22797017-22797018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11087401	chr20:22797078-22797079	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs147178562	chr20:22797151-22797152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538158283	chr20:22797177-22797178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6082860	chr20:22797241-22797242	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs6106563	chr20:22797246-22797247	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs546720557	chr20:22797280-22797281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs57541379	chr20:22797327-22797328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552708769	chr20:22797339-22797340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370993823	chr20:22797386-22797387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11087402	chr20:22797449-22797450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201384550	chr20:22797450-22797451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201640500	chr20:22797474-22797475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553614755	chr20:22797483-22797484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6082861	chr20:22797489-22797490	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs545955572	chr20:22797540-22797541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140495490	chr20:22797559-22797560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144447809	chr20:22797572-22797573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199653740	chr20:22797586-22797587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11468201	chr20:22797588-22797589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200203516	chr20:22797593-22797594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111823310	chr20:22797609-22797610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7262870	chr20:22797616-22797617	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs189637760	chr20:22797625-22797626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182318325	chr20:22797642-22797643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570991785	chr20:22797664-22797665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186718982	chr20:22797687-22797688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs193228404	chr20:22797725-22797726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552370740	chr20:22797740-22797741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6106564	chr20:22797742-22797743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Breast cancer	16608533	CNVD
Cancer	20164919	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17133270	CNVD
Thrombophilia	17576883	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Hepatocellular carcinoma	22174799	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22792400-22799000	Weak transcription	Placenta	Placenta
2	chr20:22793800-22796800	Enhancers	Dnd41	blood
3	chr20:22794400-22797200	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr20:22794600-22797200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr20:22794800-22797000	Enhancers	Primary hematopoietic stem cells	blood
6	chr20:22795000-22797200	Enhancers	Fetal Muscle Leg	muscle
7	chr20:22795600-22797000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr20:22795600-22797200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr20:22795600-22798600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr20:22795800-22796800	Enhancers	Brain Substantia Nigra	brain
11	chr20:22795800-22802400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr20:22796000-22796800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr20:22796000-22797200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr20:22796200-22802000	Weak transcription	Fetal Stomach	stomach
15	chr20:22796400-22796800	Enhancers	Adipose Nuclei	Adipose
16	chr20:22796400-22797000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr20:22796400-22797000	Active TSS	Brain Hippocampus Middle	brain
18	chr20:22796600-22797000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr20:22796600-22797000	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr20:22796600-22797000	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr20:22796600-22797200	Enhancers	H9 Cell Line	embryonic stem cell
22	chr20:22796600-22797200	Enhancers	HSMMtube	muscle
23	chr20:22796600-22801600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr20:22796800-22797000	Enhancers	Fetal Kidney	kidney
25	chr20:22797200-22798800	Weak transcription	Fetal Muscle Leg	muscle
26	chr20:22797200-22802200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr20:22797200-22804400	Weak transcription	HSMMtube	muscle
28	chr20:22798600-22799000	Enhancers	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links