Variant report

Variant	esv1798908
Chromosome Location	chr20:922037-931246
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	chr20:925330..928261-chr20:941058..943608,3	K562	blood:
2	chr20:921972..923694-chr20:931266..933420,2	K562	blood:

Extended variants
information (count: 409 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:409 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572725549	chr20:922069-922070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181246347	chr20:922090-922091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538714948	chr20:922097-922098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561920	chr20:922125-922126	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs201534267	chr20:922126-922127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542683856	chr20:922150-922151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559399334	chr20:922155-922156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78495223	chr20:922173-922174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186483674	chr20:922183-922184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564488223	chr20:922194-922195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533609664	chr20:922201-922202	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs549985258	chr20:922216-922217	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs569863002	chr20:922244-922245	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs189453650	chr20:922262-922263	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs139205336	chr20:922267-922268	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs73602197	chr20:922280-922281	Weak transcription Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs142417374	chr20:922296-922297	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs558063795	chr20:922383-922384	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs571329952	chr20:922384-922385	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs537297350	chr20:922415-922416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557081373	chr20:922416-922417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs36030099	chr20:922471-922472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573737283	chr20:922514-922515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536354336	chr20:922518-922519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114446813	chr20:922615-922616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377539554	chr20:922666-922667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571224	chr20:922670-922671	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs540591857	chr20:922684-922685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564830634	chr20:922693-922694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs578108439	chr20:922695-922696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550388148	chr20:922711-922712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181050316	chr20:922712-922713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs61451560	chr20:922758-922759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560700559	chr20:922767-922768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186297266	chr20:922805-922806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140998890	chr20:922865-922866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200832919	chr20:922912-922913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374832788	chr20:922916-922917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs202023512	chr20:922920-922921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs60846309	chr20:922926-922927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139811457	chr20:922954-922955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113205771	chr20:922969-922970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528511850	chr20:922982-922983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191036799	chr20:922983-922984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372961370	chr20:922995-922996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13042446	chr20:923001-923002	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs148576642	chr20:923010-923011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs13036851	chr20:923036-923037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142934135	chr20:923067-923068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187834491	chr20:923075-923076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Glioblastoma multiforme	22286061	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	19455253	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17603634	CNVD
Colorectal cancer	19359472	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16774939	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
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
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Gastric cancer	17908304	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:897400-954200	Weak transcription	Right Atrium	heart
2	chr20:915200-924800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr20:921800-923400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr20:922200-922400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr20:923400-925200	Enhancers	Duodenum Mucosa	Duodenum
6	chr20:923400-925600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr20:923600-924000	Enhancers	H9 Cell Line	embryonic stem cell
8	chr20:923600-924000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr20:923600-924400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr20:923800-924000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr20:923800-925800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr20:923800-926000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr20:923800-926000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr20:923800-926600	Enhancers	Fetal Intestine Small	intestine
15	chr20:924000-924200	Enhancers	Stomach Mucosa	stomach
16	chr20:924000-925000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr20:924000-925000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr20:924000-925200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr20:924000-925200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr20:924200-924400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr20:924200-925000	Weak transcription	Stomach Mucosa	stomach
22	chr20:924200-926200	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr20:924400-924800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr20:924400-925600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr20:924600-924800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr20:924800-925000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr20:924800-925000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr20:924800-926000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr20:924800-926600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr20:925000-925200	Enhancers	Stomach Mucosa	stomach
31	chr20:925000-925400	Enhancers	H9 Cell Line	embryonic stem cell
32	chr20:925000-925400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr20:925000-925400	Enhancers	Fetal Intestine Large	intestine
34	chr20:925000-925600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr20:925000-926000	Enhancers	H1 Cell Line	embryonic stem cell
36	chr20:925000-926600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr20:925200-925600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr20:925200-925600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr20:925200-925800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr20:925200-925800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr20:925200-926200	Enhancers	Adipose Nuclei	Adipose
42	chr20:925200-926400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr20:925200-926400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr20:925200-926400	Bivalent Enhancer	Stomach Mucosa	stomach
45	chr20:925400-925600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr20:925400-925800	Enhancers	Placenta	Placenta
47	chr20:925400-926000	Bivalent Enhancer	Fetal Intestine Large	intestine
48	chr20:925600-925800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr20:925600-925800	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr20:925600-926000	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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