Variant report

Variant	esv1800631
Chromosome Location	chr20:913711-928425
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:921972..923694-chr20:931266..933420,2	K562	blood:
2	chr20:914281..915061-chr3:49059512..49060483,2	NB4	blood:
3	chr20:925330..928261-chr20:941058..943608,3	K562	blood:

Variant related genes	Relation type
ENSG00000178057	chromatin interactions
ENSG00000178149	chromatin interactions

Extended variants
information (count: 630 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:630 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77509110	chr20:913725-913726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs35837479	chr20:913736-913737	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs181469422	chr20:913737-913738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115126723	chr20:913738-913739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532564381	chr20:913751-913752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35202943	chr20:913767-913768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552483842	chr20:913780-913781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562828351	chr20:913828-913829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143709012	chr20:913851-913852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548402276	chr20:913984-913985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185948766	chr20:913997-913998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533835837	chr20:914002-914003	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs138324337	chr20:914019-914020	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs570081823	chr20:914040-914041	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs60835818	chr20:914162-914163	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs189971280	chr20:914249-914250	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558804713	chr20:914266-914267	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181137319	chr20:914319-914320	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs185579664	chr20:914330-914331	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs80304690	chr20:914354-914355	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs34861697	chr20:914373-914374	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs574939326	chr20:914375-914376	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs540704452	chr20:914379-914380	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs513432	chr20:914407-914408	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs530008	chr20:914420-914421	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs540925641	chr20:914462-914463	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs546264007	chr20:914491-914492	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs114786561	chr20:914519-914520	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs143818001	chr20:914523-914524	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs541760647	chr20:914634-914635	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs78675605	chr20:914649-914650	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs147236062	chr20:914686-914687	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs577906547	chr20:914688-914689	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs377125279	chr20:914690-914691	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs547075591	chr20:914716-914717	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs138217760	chr20:914801-914802	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs532762604	chr20:914842-914843	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs549791586	chr20:914856-914857	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs569562496	chr20:914872-914873	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs6133596	chr20:914913-914914	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs554987764	chr20:914953-914954	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs190749714	chr20:914974-914975	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs534421019	chr20:915029-915030	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs554301770	chr20:915036-915037	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs577452275	chr20:915054-915055	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs182892542	chr20:915055-915056	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs188591688	chr20:915056-915057	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs576380184	chr20:915086-915087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542072169	chr20:915094-915095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192387101	chr20:915111-915112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
small cell lung cancer	17426248	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:897400-954200	Weak transcription	Right Atrium	heart
2	chr20:913200-914200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr20:914000-914400	Enhancers	Duodenum Mucosa	Duodenum
4	chr20:914000-914400	Bivalent Enhancer	Fetal Intestine Small	intestine
5	chr20:914000-914400	Enhancers	Stomach Mucosa	stomach
6	chr20:914800-915200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr20:915200-924800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr20:921600-921800	Enhancers	Adipose Nuclei	Adipose
9	chr20:921600-921800	Enhancers	Duodenum Mucosa	Duodenum
10	chr20:921800-923400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr20:922200-922400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr20:923400-925200	Enhancers	Duodenum Mucosa	Duodenum
13	chr20:923400-925600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr20:923600-924000	Enhancers	H9 Cell Line	embryonic stem cell
15	chr20:923600-924000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr20:923600-924400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr20:923800-924000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr20:923800-925800	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr20:923800-926000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr20:923800-926000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr20:923800-926600	Enhancers	Fetal Intestine Small	intestine
22	chr20:924000-924200	Enhancers	Stomach Mucosa	stomach
23	chr20:924000-925000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr20:924000-925000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr20:924000-925200	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr20:924000-925200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr20:924200-924400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr20:924200-925000	Weak transcription	Stomach Mucosa	stomach
29	chr20:924200-926200	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr20:924400-924800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr20:924400-925600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr20:924600-924800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr20:924800-925000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr20:924800-925000	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr20:924800-926000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr20:924800-926600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr20:925000-925200	Enhancers	Stomach Mucosa	stomach
38	chr20:925000-925400	Enhancers	H9 Cell Line	embryonic stem cell
39	chr20:925000-925400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr20:925000-925400	Enhancers	Fetal Intestine Large	intestine
41	chr20:925000-925600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr20:925000-926000	Enhancers	H1 Cell Line	embryonic stem cell
43	chr20:925000-926600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr20:925200-925600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr20:925200-925600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr20:925200-925800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr20:925200-925800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr20:925200-926200	Enhancers	Adipose Nuclei	Adipose
49	chr20:925200-926400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr20:925200-926400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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