Variant report

Variant	esv3442827
Chromosome Location	chr20:22632852-22637550
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:22635762..22637997-chr20:22639444..22642295,2	K562	blood:
2	chr20:22627996..22631252-chr20:22637108..22639822,3	MCF-7	breast:
3	chr20:22633726..22635582-chr20:22639135..22641090,2	K562	blood:
4	chr20:22626256..22628397-chr20:22632199..22635114,3	MCF-7	breast:

Extended variants
information (count: 213 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:213 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550827293	chr20:22632865-22632866	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs575556562	chr20:22632880-22632881	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs146640414	chr20:22632883-22632884	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs747911	chr20:22632931-22632932	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs546528714	chr20:22632932-22632933	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs566335073	chr20:22632942-22632943	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs191975627	chr20:22632949-22632950	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs547592122	chr20:22632951-22632952	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs184719527	chr20:22632956-22632957	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs140213437	chr20:22632966-22632967	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs538016995	chr20:22632974-22632975	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs554766548	chr20:22632984-22632985	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs575033194	chr20:22632993-22632994	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs113900287	chr20:22633000-22633001	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs188644503	chr20:22633035-22633036	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs747912	chr20:22633060-22633061	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs145247164	chr20:22633074-22633075	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs13037723	chr20:22633104-22633105	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs562953481	chr20:22633121-22633122	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs6137713	chr20:22633145-22633146	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs910956	chr20:22633155-22633156	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs561066992	chr20:22633172-22633173	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs181419065	chr20:22633173-22633174	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs540153556	chr20:22633188-22633189	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs560426288	chr20:22633192-22633193	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs531998406	chr20:22633195-22633196	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs149494537	chr20:22633230-22633231	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76651271	chr20:22633280-22633281	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531310412	chr20:22633286-22633287	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76560390	chr20:22633384-22633385	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185997379	chr20:22633390-22633391	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534448361	chr20:22633393-22633394	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147612698	chr20:22633421-22633422	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs189062753	chr20:22633446-22633447	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs571155125	chr20:22633451-22633452	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs180938978	chr20:22633452-22633453	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs186073084	chr20:22633464-22633465	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs542352394	chr20:22633471-22633472	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
39	rs555876550	chr20:22633486-22633487	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs574525115	chr20:22633500-22633501	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs143123119	chr20:22633595-22633596	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs148253843	chr20:22633618-22633619	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs537867723	chr20:22633620-22633621	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs532297733	chr20:22633640-22633641	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs754855	chr20:22633643-22633644	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs562156307	chr20:22633679-22633680	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs531249450	chr20:22633692-22633693	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs191067237	chr20:22633743-22633744	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs539141257	chr20:22633780-22633781	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs568173632	chr20:22633792-22633793	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS	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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22630200-22633000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr20:22632400-22634200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr20:22632800-22633200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr20:22633000-22633200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr20:22633000-22633200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr20:22633000-22633200	Flanking Active TSS	Fetal Brain Male	brain
7	chr20:22633000-22633200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
8	chr20:22633000-22633200	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
9	chr20:22633000-22633400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
10	chr20:22633000-22633800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr20:22633000-22633800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
12	chr20:22633000-22634000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr20:22633000-22634400	Enhancers	Colon Smooth Muscle	Colon
14	chr20:22633000-22634800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr20:22633200-22633400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
16	chr20:22633200-22633400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr20:22633200-22633400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
18	chr20:22633200-22633400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
19	chr20:22633200-22633400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr20:22633200-22633400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr20:22633200-22633400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
22	chr20:22633200-22633400	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr20:22633200-22633400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
24	chr20:22633200-22633600	Enhancers	Placenta	Placenta
25	chr20:22633200-22633800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
26	chr20:22633200-22633800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
27	chr20:22633200-22633800	Bivalent Enhancer	Fetal Intestine Large	intestine
28	chr20:22633200-22634200	Bivalent Enhancer	Fetal Muscle Leg	muscle
29	chr20:22633200-22634200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
30	chr20:22633200-22635800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr20:22633400-22633600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
32	chr20:22633400-22633600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr20:22633400-22633600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
34	chr20:22633400-22633600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
35	chr20:22633400-22633600	Bivalent Enhancer	HSMMtube	muscle
36	chr20:22633400-22633800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
37	chr20:22633400-22633800	Active TSS	Rectal Mucosa Donor 31	rectum
38	chr20:22633400-22634000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
39	chr20:22633400-22634200	Enhancers	H1 Cell Line	embryonic stem cell
40	chr20:22633400-22634800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr20:22633400-22635000	Enhancers	HSMM	muscle
42	chr20:22633600-22633800	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
43	chr20:22633600-22633800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr20:22633600-22633800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr20:22633600-22634000	Enhancers	Muscle Satellite Cultured Cells	--
46	chr20:22633600-22634600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
47	chr20:22633600-22634800	Enhancers	HSMMtube	muscle
48	chr20:22633800-22634000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
49	chr20:22633800-22634000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr20:22633800-22634000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin

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