Variant report

Variant	esv3370472
Chromosome Location	chr20:23756652-23757700
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78912444	chr20:23756670-23756671	Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs529643446	chr20:23756672-23756673	Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs145875185	chr20:23756693-23756694	Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs553635227	chr20:23756702-23756703	Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs573420516	chr20:23756707-23756708	Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs545214167	chr20:23756737-23756738	Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs565109453	chr20:23756738-23756739	Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs530988753	chr20:23756740-23756741	Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs544335816	chr20:23756768-23756769	Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs6138073	chr20:23756772-23756773	Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs79763794	chr20:23756799-23756800	Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs147402900	chr20:23756800-23756801	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs565974223	chr20:23756803-23756804	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs138227739	chr20:23756826-23756827	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs7261342	chr20:23756827-23756828	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs7261217	chr20:23756855-23756856	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs34942145	chr20:23756862-23756863	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs7261302	chr20:23756911-23756912	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs557130604	chr20:23756913-23756914	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs567205556	chr20:23756919-23756920	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs181231310	chr20:23756946-23756947	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs186205381	chr20:23757019-23757020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189612636	chr20:23757041-23757042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183340153	chr20:23757044-23757045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573503677	chr20:23757069-23757070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6083255	chr20:23757078-23757079	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs143707485	chr20:23757089-23757090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6049102	chr20:23757104-23757105	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs575474310	chr20:23757111-23757112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374432255	chr20:23757112-23757113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs6049103	chr20:23757164-23757165	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs574797936	chr20:23757175-23757176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs116226615	chr20:23757190-23757191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115115425	chr20:23757191-23757192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371689027	chr20:23757198-23757199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532526332	chr20:23757245-23757246	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs139673063	chr20:23757262-23757263	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs6114277	chr20:23757265-23757266	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs114380539	chr20:23757268-23757269	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs149378894	chr20:23757293-23757294	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs6036525	chr20:23757294-23757295	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs535940524	chr20:23757315-23757316	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs542904436	chr20:23757421-23757422	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs6049104	chr20:23757448-23757449	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs186101457	chr20:23757449-23757450	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs371600063	chr20:23757468-23757469	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs6036526	chr20:23757471-23757472	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs528847716	chr20:23757480-23757481	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs369467711	chr20:23757503-23757504	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs575486509	chr20:23757533-23757534	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
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
small cell lung cancer	17426248	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23756000-23756800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:23756000-23757400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr20:23756200-23757000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr20:23756400-23756800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
5	chr20:23756400-23756800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
6	chr20:23756400-23757200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr20:23756400-23757400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr20:23756400-23757600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr20:23756600-23756800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr20:23756600-23756800	Bivalent Enhancer	Fetal Stomach	stomach
11	chr20:23756600-23757000	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr20:23756600-23757600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr20:23756600-23757800	Enhancers	Fetal Kidney	kidney
14	chr20:23756800-23757000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr20:23756800-23757400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr20:23757000-23757400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr20:23757200-23757400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr20:23757200-23757400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr20:23757200-23757400	Enhancers	Fetal Intestine Large	intestine
20	chr20:23757200-23757600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr20:23757200-23757600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr20:23757200-23757600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr20:23757200-23757600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
24	chr20:23757200-23757600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr20:23757200-23757800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr20:23757200-23758000	Enhancers	Osteobl	bone
27	chr20:23757200-23758200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr20:23757400-23757600	Enhancers	H9 Cell Line	embryonic stem cell
29	chr20:23757400-23757600	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr20:23757400-23757600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr20:23757600-23759000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr20:23757600-23759000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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