Variant report

Variant	esv3420534
Chromosome Location	chr20:29516391-29520589
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	chr20:29520570..29521135-chr20:29591146..29591730,2	K562	blood:

Extended variants
information (count: 447 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:447 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562659232	chr20:29516393-29516394	Weak transcription Enhancers Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs531450288	chr20:29516394-29516395	Weak transcription Enhancers Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs199768449	chr20:29516396-29516397	Weak transcription Enhancers Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs541896659	chr20:29516404-29516405	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs77923699	chr20:29516406-29516407	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs527236492	chr20:29516417-29516418	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs547010924	chr20:29516437-29516438	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs201833827	chr20:29516447-29516448	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs371109689	chr20:29516477-29516478	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs192993137	chr20:29516527-29516528	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs368494007	chr20:29516535-29516536	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs6057530	chr20:29516546-29516547	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs113331778	chr20:29516558-29516559	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs552479010	chr20:29516560-29516561	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs67808748	chr20:29516567-29516568	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs569431013	chr20:29516578-29516579	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs200080758	chr20:29516585-29516586	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs200982775	chr20:29516599-29516600	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs555008699	chr20:29516604-29516605	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs372370256	chr20:29516613-29516614	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs370980745	chr20:29516621-29516622	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs112951844	chr20:29516626-29516627	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs73114044	chr20:29516632-29516633	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs530719902	chr20:29516634-29516635	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs73114046	chr20:29516645-29516646	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs534156657	chr20:29516667-29516668	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs13042647	chr20:29516670-29516671	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs2424800	chr20:29516683-29516684	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs556223229	chr20:29516684-29516685	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs531239679	chr20:29516702-29516703	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs576143625	chr20:29516739-29516740	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs138098481	chr20:29516760-29516761	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs117220973	chr20:29516762-29516763	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs13042691	chr20:29516764-29516765	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs143608188	chr20:29516778-29516779	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs150706138	chr20:29516781-29516782	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs146819730	chr20:29516786-29516787	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs140928535	chr20:29516791-29516792	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
39	rs117367188	chr20:29516795-29516796	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs149263538	chr20:29516799-29516800	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs532810496	chr20:29516812-29516813	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs140161328	chr20:29516824-29516825	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs552443327	chr20:29516831-29516832	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs144276078	chr20:29516832-29516833	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs142221385	chr20:29516834-29516835	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs563049093	chr20:29516840-29516841	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs137977470	chr20:29516842-29516843	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs371755297	chr20:29516861-29516862	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs531887739	chr20:29516866-29516867	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs548521278	chr20:29516889-29516890	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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	20164919	CNVD
Amyotrophic lateral sclerosis	20688871	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:280 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:29510800-29518000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr20:29510800-29518200	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr20:29512200-29518400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr20:29512600-29517400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr20:29513000-29518200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr20:29515000-29518400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr20:29515600-29516800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr20:29516000-29516800	ZNF genes & repeats	Brain Germinal Matrix	brain
9	chr20:29516200-29516400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr20:29516200-29516400	Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr20:29516200-29516600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
12	chr20:29516200-29516600	Active TSS	Right Atrium	heart
13	chr20:29516200-29516600	Active TSS	Right Ventricle	heart
14	chr20:29516200-29516600	Active TSS	Stomach Smooth Muscle	stomach
15	chr20:29516200-29516800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr20:29516200-29516800	Active TSS	Brain Anterior Caudate	brain
17	chr20:29516200-29516800	ZNF genes & repeats	Pancreas	Pancrea
18	chr20:29516200-29517000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
19	chr20:29516400-29516600	Enhancers	Duodenum Mucosa	Duodenum
20	chr20:29516400-29516600	Active TSS	Left Ventricle	heart
21	chr20:29516400-29516800	Enhancers	Primary hematopoietic stem cells	blood
22	chr20:29516400-29516800	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr20:29516400-29516800	Bivalent Enhancer	Placenta	Placenta
24	chr20:29516400-29516800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
25	chr20:29516400-29516800	ZNF genes & repeats	Spleen	Spleen
26	chr20:29516400-29517600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr20:29516400-29518000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr20:29516600-29516800	Flanking Active TSS	Right Ventricle	heart
29	chr20:29516600-29516800	Enhancers	Stomach Smooth Muscle	stomach
30	chr20:29516600-29517000	Weak transcription	Left Ventricle	heart
31	chr20:29516600-29518000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr20:29516600-29518000	Weak transcription	Fetal Muscle Trunk	muscle
33	chr20:29516600-29518200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr20:29516600-29518200	Weak transcription	Right Atrium	heart
35	chr20:29516800-29517200	Enhancers	Right Ventricle	heart
36	chr20:29516800-29517800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr20:29516800-29517800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr20:29516800-29518200	Weak transcription	Primary hematopoietic stem cells	blood
39	chr20:29516800-29518200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr20:29516800-29518200	Weak transcription	Brain Anterior Caudate	brain
41	chr20:29516800-29518200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr20:29516800-29518200	Weak transcription	Pancreas	Pancrea
43	chr20:29516800-29518200	Weak transcription	Spleen	Spleen
44	chr20:29517000-29517200	Enhancers	Left Ventricle	heart
45	chr20:29517000-29518000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr20:29517200-29518200	Enhancers	Primary T cells fromperipheralblood	blood
47	chr20:29517200-29518200	Weak transcription	Left Ventricle	heart
48	chr20:29517200-29518200	Weak transcription	Right Ventricle	heart
49	chr20:29517400-29517600	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr20:29517600-29517800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links