Variant report

Variant	esv3379368
Chromosome Location	chr20:22633452-22636850
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 152 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:152 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	rs112752503	chr20:22633809-22633810	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs182853235	chr20:22633848-22633849	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs547984502	chr20:22633849-22633850	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs910957	chr20:22633854-22633855	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs185991746	chr20:22633873-22633874	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs874525	chr20:22633889-22633890	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs570061999	chr20:22633899-22633900	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs535880418	chr20:22633928-22633929	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs555564372	chr20:22633936-22633937	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs557235163	chr20:22633950-22633951	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs191328446	chr20:22633995-22633996	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs368879428	chr20:22634008-22634009	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs553938567	chr20:22634036-22634037	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs142816048	chr20:22634080-22634081	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs545686525	chr20:22634081-22634082	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs562486739	chr20:22634085-22634086	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs575607428	chr20:22634095-22634096	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs371981075	chr20:22634098-22634099	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs374961421	chr20:22634115-22634116	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs188315518	chr20:22634153-22634154	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs561592566	chr20:22634173-22634174	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs527402432	chr20:22634181-22634182	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs560265825	chr20:22634189-22634190	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs147421676	chr20:22634229-22634230	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs542449830	chr20:22634236-22634237	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs533607992	chr20:22634248-22634249	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs552388797	chr20:22634276-22634277	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs139775307	chr20:22634277-22634278	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs112487692	chr20:22634286-22634287	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs535813216	chr20:22634330-22634331	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs150626376	chr20:22634375-22634376	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs139763241	chr20:22634378-22634379	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs78591564	chr20:22634379-22634380	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs558008724	chr20:22634384-22634385	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs149806517	chr20:22634449-22634450	Weak transcription Enhancers Bivalent Enhancer 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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22632400-22634200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr20:22633000-22633800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr20:22633000-22633800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
4	chr20:22633000-22634000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr20:22633000-22634400	Enhancers	Colon Smooth Muscle	Colon
6	chr20:22633000-22634800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr20:22633200-22633600	Enhancers	Placenta	Placenta
8	chr20:22633200-22633800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
9	chr20:22633200-22633800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
10	chr20:22633200-22633800	Bivalent Enhancer	Fetal Intestine Large	intestine
11	chr20:22633200-22634200	Bivalent Enhancer	Fetal Muscle Leg	muscle
12	chr20:22633200-22634200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
13	chr20:22633200-22635800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr20:22633400-22633600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr20:22633400-22633600	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr20:22633400-22633600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
17	chr20:22633400-22633600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
18	chr20:22633400-22633600	Bivalent Enhancer	HSMMtube	muscle
19	chr20:22633400-22633800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
20	chr20:22633400-22633800	Active TSS	Rectal Mucosa Donor 31	rectum
21	chr20:22633400-22634000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
22	chr20:22633400-22634200	Enhancers	H1 Cell Line	embryonic stem cell
23	chr20:22633400-22634800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr20:22633400-22635000	Enhancers	HSMM	muscle
25	chr20:22633600-22633800	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
26	chr20:22633600-22633800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr20:22633600-22633800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr20:22633600-22634000	Enhancers	Muscle Satellite Cultured Cells	--
29	chr20:22633600-22634600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
30	chr20:22633600-22634800	Enhancers	HSMMtube	muscle
31	chr20:22633800-22634000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
32	chr20:22633800-22634000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr20:22633800-22634000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr20:22633800-22634200	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr20:22633800-22634400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr20:22633800-22634400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr20:22633800-22634400	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr20:22633800-22634400	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr20:22633800-22634400	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr20:22633800-22635000	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr20:22634000-22634200	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
42	chr20:22634000-22634200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr20:22634000-22634600	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
44	chr20:22634000-22643400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr20:22634200-22634400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
46	chr20:22634200-22635000	Enhancers	Fetal Muscle Leg	muscle
47	chr20:22634200-22639400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr20:22634400-22634600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
49	chr20:22634400-22639000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr20:22634400-22639600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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