Variant report

Variant	esv3413490
Chromosome Location	chr20:29613146-29614729
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	chr20:29610847..29613187-chr4:190860454..190862227,2	K562	blood:
2	chr20:29611333..29614057-chr4:190860675..190863034,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000245685	chromatin interactions
ENSG00000109536	chromatin interactions

Extended variants
information (count: 183 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:183 , 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	rs373219027	chr20:29613146-29613147	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs565833315	chr20:29613148-29613149	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs202118144	chr20:29613151-29613152	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs377496135	chr20:29613153-29613154	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs557838777	chr20:29613175-29613176	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs78615647	chr20:29613177-29613178	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs77384912	chr20:29613179-29613180	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs77636189	chr20:29613197-29613198	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs370024210	chr20:29613198-29613199	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs571372897	chr20:29613203-29613204	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs75155170	chr20:29613216-29613217	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs537032890	chr20:29613217-29613218	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs372962272	chr20:29613226-29613227	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs557040291	chr20:29613242-29613243	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs78056881	chr20:29613245-29613246	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs73616393	chr20:29613254-29613255	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs62197036	chr20:29613262-29613263	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs202093234	chr20:29613267-29613268	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs35646208	chr20:29613268-29613269	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs376182943	chr20:29613271-29613272	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs200178887	chr20:29613273-29613274	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs542545721	chr20:29613278-29613279	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs73616394	chr20:29613287-29613288	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs78024836	chr20:29613288-29613289	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs62197037	chr20:29613321-29613322	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs77561461	chr20:29613323-29613324	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs147758929	chr20:29613326-29613327	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs62197038	chr20:29613342-29613343	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs62197039	chr20:29613345-29613346	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs80096592	chr20:29613375-29613376	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs555802966	chr20:29613376-29613377	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs75313204	chr20:29613381-29613382	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs77109530	chr20:29613382-29613383	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs76450361	chr20:29613388-29613389	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs141879047	chr20:29613401-29613402	ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs572575341	chr20:29613406-29613407	ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs62197040	chr20:29613415-29613416	ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs541270700	chr20:29613418-29613419	ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs564200364	chr20:29613421-29613422	ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs79431724	chr20:29613422-29613423	ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs533290953	chr20:29613436-29613437	ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs62197041	chr20:29613440-29613441	ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs62197042	chr20:29613445-29613446	ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs543409757	chr20:29613508-29613509	ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs370647343	chr20:29613521-29613522	ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs74448897	chr20:29613532-29613533	ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs74354402	chr20:29613541-29613542	ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs80000536	chr20:29613544-29613545	ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs529284787	chr20:29613546-29613547	ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs62197043	chr20:29613581-29613582	ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	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
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21806811	CNVD
Melanoma	21693616	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
colon cancer	17210682	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	22028636	CNVD
Breast cancer	21264507	CNVD
Thyroid cancer	19087340	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Soft tissue tumor	16732325	CNVD
Colorectal cancer	19359472	CNVD
Gastric cancer	17167181	CNVD
Myeloproliferative neoplasm	19047681	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	22860045	CNVD
Ovarian cancer	20844748	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
early-passage human iPS cells	21368824	CNVD
Lung cancer	18438408	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Oral cancer	21386901	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:29609400-29614200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr20:29610600-29614800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr20:29610600-29614800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr20:29610800-29613400	ZNF genes & repeats	HMEC	breast
5	chr20:29610800-29613400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
6	chr20:29610800-29613600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
7	chr20:29610800-29613600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
8	chr20:29610800-29613600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
9	chr20:29610800-29613600	ZNF genes & repeats	Fetal Brain Male	brain
10	chr20:29610800-29614800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
11	chr20:29610800-29614800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
12	chr20:29611000-29613200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr20:29611000-29613400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr20:29611000-29613400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr20:29611000-29613400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr20:29611000-29613800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr20:29611000-29613800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
18	chr20:29611000-29613800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
19	chr20:29611200-29613400	Active TSS	Ovary	ovary
20	chr20:29611200-29613600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr20:29611400-29613200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr20:29611400-29613200	Active TSS	Stomach Mucosa	stomach
23	chr20:29611400-29613400	Active TSS	Psoas Muscle	Psoas
24	chr20:29611400-29613600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr20:29611400-29613600	Active TSS	Colon Smooth Muscle	Colon
26	chr20:29611400-29614000	Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr20:29611600-29613400	Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr20:29611600-29613400	Active TSS	K562	blood
29	chr20:29611600-29613600	Active TSS	Brain Angular Gyrus	brain
30	chr20:29611600-29613600	Active TSS	A549	lung
31	chr20:29612400-29613400	Weak transcription	Lung	lung
32	chr20:29612400-29613600	Active TSS	Muscle Satellite Cultured Cells	--
33	chr20:29612400-29613600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr20:29612400-29613600	Active TSS	GM12878-XiMat	blood
35	chr20:29612400-29613800	Active TSS	NHDF-Ad	bronchial
36	chr20:29612600-29613200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr20:29612600-29613200	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr20:29612600-29613200	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr20:29612600-29613400	Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr20:29612600-29613400	Weak transcription	Small Intestine	intestine
41	chr20:29612600-29613800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr20:29612600-29616200	Weak transcription	Gastric	stomach
43	chr20:29612600-29616800	Weak transcription	Fetal Intestine Large	intestine
44	chr20:29612600-29618600	Weak transcription	Pancreas	Pancrea
45	chr20:29612600-29622400	Weak transcription	Aorta	Aorta
46	chr20:29612800-29613200	Enhancers	Primary B cells from cord blood	blood
47	chr20:29612800-29613200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr20:29612800-29613200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr20:29612800-29613200	Flanking Active TSS	HUVEC	blood vessel
50	chr20:29612800-29613400	Weak transcription	Brain Cingulate Gyrus	brain

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