Variant report

Variant	esv2762066
Chromosome Location	chr20:23082036-23092700
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:23080717..23083720-chr20:23084515..23087690,4	K562	blood:
2	chr20:23029285..23030883-chr20:23079788..23082337,2	MCF-7	breast:
3	chr20:23087953..23091765-chr20:23104298..23106744,4	K562	blood:
4	chr20:23092456..23098917-chr20:23127069..23136117,14	K562	blood:
5	chr20:23080110..23082822-chr20:23132025..23133564,2	K562	blood:
6	chr20:23088338..23089890-chr20:23107180..23109300,2	MCF-7	breast:
7	chr20:23074883..23076456-chr20:23081289..23084171,2	MCF-7	breast:
8	chr20:23077030..23079208-chr20:23089965..23091827,2	K562	blood:
9	chr20:23092388..23096498-chr20:23127168..23130418,4	K562	blood:
10	chr20:23064609..23066913-chr20:23084404..23086526,2	K562	blood:
11	chr20:23080717..23083720-chr20:23084515..23087690,4	K562	blood:
12	chr20:23079507..23082069-chr20:23090544..23092164,2	K562	blood:
13	chr20:23046496..23048382-chr20:23085571..23088058,2	MCF-7	breast:
14	chr20:23079507..23082069-chr20:23090544..23092164,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000178726	chromatin interactions

Extended variants
information (count: 445 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:445 , 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	rs577053181	chr20:23082071-23082072	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs79570731	chr20:23082081-23082082	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs844820	chr20:23082108-23082109	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs575735224	chr20:23082167-23082168	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs541486239	chr20:23082173-23082174	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs76583057	chr20:23082176-23082177	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs565214247	chr20:23082204-23082205	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs527855309	chr20:23082212-23082213	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs373273543	chr20:23082213-23082214	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs371429294	chr20:23082245-23082246	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs189666031	chr20:23082288-23082289	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs151045505	chr20:23082290-23082291	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs550199662	chr20:23082297-23082298	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs75982011	chr20:23082325-23082326	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs535968428	chr20:23082370-23082371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549181622	chr20:23082374-23082375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566141985	chr20:23082388-23082389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs844821	chr20:23082403-23082404	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs553924824	chr20:23082415-23082416	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs577112150	chr20:23082451-23082452	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs539301312	chr20:23082470-23082471	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs555750256	chr20:23082471-23082472	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs575601017	chr20:23082553-23082554	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs527479884	chr20:23082565-23082566	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs77377460	chr20:23082615-23082616	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs844822	chr20:23082641-23082642	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs844823	chr20:23082662-23082663	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs564653299	chr20:23082720-23082721	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs180990573	chr20:23082723-23082724	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs549964764	chr20:23082763-23082764	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs544092746	chr20:23082781-23082782	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs563692968	chr20:23082813-23082814	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs844824	chr20:23082817-23082818	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs549343659	chr20:23082820-23082821	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs111450460	chr20:23082842-23082843	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs844825	chr20:23082881-23082882	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs192446503	chr20:23082884-23082885	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs140943612	chr20:23082890-23082891	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs539366504	chr20:23082894-23082895	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs556013890	chr20:23082928-23082929	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs62202612	chr20:23082929-23082930	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs533589772	chr20:23082933-23082934	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs535141590	chr20:23082948-23082949	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs79410567	chr20:23082970-23082971	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs572046603	chr20:23083045-23083046	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs372618189	chr20:23083071-23083072	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs545584980	chr20:23083102-23083103	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs183334229	chr20:23083127-23083128	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs201036999	chr20:23083131-23083132	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs376921222	chr20:23083234-23083235	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:206 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23072800-23092000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:23073000-23087000	Weak transcription	Gastric	stomach
3	chr20:23073800-23085800	Weak transcription	Right Ventricle	heart
4	chr20:23074600-23082200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr20:23074600-23083000	Weak transcription	Right Atrium	heart
6	chr20:23075000-23083000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr20:23075000-23085600	Weak transcription	Fetal Lung	lung
8	chr20:23076600-23082400	Weak transcription	HUVEC	blood vessel
9	chr20:23077400-23084800	Enhancers	Placenta	Placenta
10	chr20:23077800-23082400	Weak transcription	Left Ventricle	heart
11	chr20:23079000-23084400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr20:23079200-23082600	Weak transcription	Lung	lung
13	chr20:23079200-23083400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr20:23079800-23083400	Enhancers	Esophagus	oesophagus
15	chr20:23080000-23082200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr20:23080000-23082200	Enhancers	HMEC	breast
17	chr20:23080000-23082600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr20:23081000-23082400	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr20:23081000-23082800	Weak transcription	Spleen	Spleen
20	chr20:23081000-23085800	Weak transcription	Fetal Thymus	thymus
21	chr20:23081000-23086400	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr20:23081200-23082200	Enhancers	NHEK	skin
23	chr20:23081200-23082400	Weak transcription	Adipose Nuclei	Adipose
24	chr20:23081400-23082400	Weak transcription	Fetal Muscle Leg	muscle
25	chr20:23081400-23083000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr20:23081600-23085800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr20:23081800-23082200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr20:23081800-23082400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr20:23082000-23082400	Weak transcription	Fetal Stomach	stomach
30	chr20:23082000-23089000	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr20:23082200-23083200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr20:23082200-23083400	Weak transcription	HMEC	breast
33	chr20:23082200-23083400	Weak transcription	NHEK	skin
34	chr20:23082200-23083800	Enhancers	Fetal Muscle Trunk	muscle
35	chr20:23082400-23082600	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr20:23082400-23083200	Enhancers	Fetal Stomach	stomach
37	chr20:23082400-23083800	Enhancers	Left Ventricle	heart
38	chr20:23082400-23083800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr20:23082400-23084600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr20:23082400-23086200	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr20:23082400-23088400	Enhancers	Adipose Nuclei	Adipose
42	chr20:23082400-23088400	Enhancers	HUVEC	blood vessel
43	chr20:23082400-23088800	Enhancers	Fetal Muscle Leg	muscle
44	chr20:23082600-23083200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr20:23082600-23083400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr20:23082600-23083400	Enhancers	Lung	lung
47	chr20:23082600-23083800	Enhancers	Primary B cells from cord blood	blood
48	chr20:23082800-23083200	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr20:23082800-23084800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr20:23082800-23086600	Enhancers	Spleen	Spleen

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links