Variant report

Variant	esv17900
Chromosome Location	chr20:13279946-13336560
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:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:13300108..13302857-chr20:13304217..13306558,2	MCF-7	breast:
2	chr20:13316813..13318984-chr20:13324868..13327677,2	MCF-7	breast:
3	chr20:13186665..13187313-chr20:13282994..13283540,2	MCF-7	breast:
4	chr20:13298397..13300757-chr20:13300815..13303338,2	MCF-7	breast:
5	chr20:13279959..13281741-chr20:13285750..13288424,2	K562	blood:
6	chr20:13278576..13280207-chr20:13285349..13287405,2	MCF-7	breast:
7	chr20:13305737..13306312-chr20:13526618..13527354,2	K562	blood:
8	chr20:13305344..13306280-chr20:13527310..13528173,2	MCF-7	breast:
9	chr20:13300108..13302857-chr20:13304217..13306558,2	MCF-7	breast:
10	chr20:13186534..13187312-chr20:13283028..13283706,3	MCF-7	breast:
11	chr20:13298397..13300757-chr20:13300815..13303338,2	MCF-7	breast:
12	chr20:13281049..13283479-chr20:13288653..13290792,2	MCF-7	breast:
13	chr20:13330858..13331683-chr6:30098592..30099414,2	MCF-7	breast:
14	chr20:13323282..13325275-chr20:13975925..13977539,2	MCF-7	breast:
15	chr20:13305433..13306398-chr20:13526637..13527817,4	MCF-7	breast:
16	chr20:13296564..13298740-chr20:13303528..13306160,2	MCF-7	breast:
17	chr20:13278576..13280207-chr20:13285349..13287405,2	MCF-7	breast:
18	chr20:13099895..13100678-chr20:13283242..13284334,3	MCF-7	breast:
19	chr20:13293842..13296817-chr20:13312526..13314549,2	K562	blood:
20	chr20:13293842..13296817-chr20:13312526..13314549,2	K562	blood:
21	chr20:13316813..13318984-chr20:13324868..13327677,2	MCF-7	breast:
22	chr20:13102577..13104430-chr20:13278483..13280151,2	MCF-7	breast:
23	chr20:13325563..13328310-chr20:13332804..13334658,2	K562	blood:
24	chr20:13294043..13294675-chr9:134731164..134732018,2	MCF-7	breast:
25	chr20:13099915..13100786-chr20:13283022..13283937,3	MCF-7	breast:
26	chr20:13325563..13328310-chr20:13332804..13334658,2	K562	blood:
27	chr20:13305771..13306616-chr20:13439402..13440096,2	K562	blood:
28	chr20:13279959..13281741-chr20:13285750..13288424,2	K562	blood:
29	chr20:13281049..13283479-chr20:13288653..13290792,2	MCF-7	breast:
30	chr20:13296564..13298740-chr20:13303528..13306160,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000101251	chromatin interactions
ENSG00000172264	chromatin interactions

Extended variants
information (count: 2122 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:2122 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200138184	chr20:13279957-13279958	Genic enhancers Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs530028092	chr20:13280014-13280015	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562516676	chr20:13280020-13280021	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs61748835	chr20:13280042-13280043	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376772164	chr20:13280052-13280053	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532351003	chr20:13280063-13280064	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368922561	chr20:13280067-13280068	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552362464	chr20:13280106-13280107	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373175545	chr20:13280110-13280111	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142833862	chr20:13280111-13280112	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528361573	chr20:13280125-13280126	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs369889534	chr20:13280129-13280130	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373774554	chr20:13280131-13280132	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376760500	chr20:13280140-13280141	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs113644568	chr20:13280182-13280183	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185285111	chr20:13280190-13280191	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536630837	chr20:13280195-13280196	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531052000	chr20:13280244-13280245	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191179828	chr20:13280256-13280257	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570163386	chr20:13280258-13280259	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181870006	chr20:13280317-13280318	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558692935	chr20:13280351-13280352	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572670133	chr20:13280402-13280403	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs541737173	chr20:13280408-13280409	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186187289	chr20:13280410-13280411	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191446035	chr20:13280425-13280426	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574823990	chr20:13280471-13280472	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547524098	chr20:13280508-13280509	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543405182	chr20:13280526-13280527	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563783048	chr20:13280578-13280579	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532620355	chr20:13280605-13280606	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546044307	chr20:13280639-13280640	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs3789352	chr20:13280675-13280676	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528256345	chr20:13280716-13280717	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs6105068	chr20:13280886-13280887	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs6105069	chr20:13280997-13280998	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs376762641	chr20:13281021-13281022	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs530164177	chr20:13281062-13281063	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs3171289	chr20:13281091-13281092	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs567206224	chr20:13281096-13281097	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs377687143	chr20:13281120-13281121	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530527884	chr20:13281154-13281155	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551750866	chr20:13281198-13281199	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146093477	chr20:13281201-13281202	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs34921897	chr20:13281213-13281214	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575947457	chr20:13281276-13281277	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372454527	chr20:13281277-13281278	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs138639528	chr20:13281343-13281344	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs11908186	chr20:13281366-13281367	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs371589295	chr20:13281396-13281397	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
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
Glaucoma	21310917	CNVD
Alagille syndrome	22470819	CNVD
Lung cancer	16773561	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelofibrosis	22110671	CNVD
Kabuki syndrome	21720541	CNVD
Glioblastoma multiforme	22286061	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neurocytoma	17123091	CNVD
Autism	22102821	CNVD
Cancer	20164919	CNVD
Gastric cancer	22014070	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:515 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13230200-13280200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr20:13265200-13286000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr20:13267600-13281400	Weak transcription	Esophagus	oesophagus
4	chr20:13268000-13281400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr20:13268400-13281600	Strong transcription	Placenta	Placenta
6	chr20:13276800-13294200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr20:13277000-13281400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr20:13277200-13280200	Weak transcription	Primary T cells from cord blood	blood
9	chr20:13277400-13280200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr20:13277400-13281400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr20:13278000-13280600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr20:13278000-13280800	Weak transcription	NHEK	skin
13	chr20:13278400-13281200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr20:13278400-13283600	Weak transcription	HepG2	liver
15	chr20:13278600-13283000	Weak transcription	Fetal Intestine Small	intestine
16	chr20:13278800-13282000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr20:13279400-13280200	Strong transcription	Adipose Nuclei	Adipose
18	chr20:13279400-13280200	Strong transcription	Stomach Smooth Muscle	stomach
19	chr20:13279400-13280400	Strong transcription	Pancreas	Pancrea
20	chr20:13279400-13280400	Strong transcription	Spleen	Spleen
21	chr20:13279400-13280600	Strong transcription	Dnd41	blood
22	chr20:13279400-13281000	Strong transcription	Liver	Liver
23	chr20:13279600-13280000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr20:13279600-13280000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr20:13279600-13280000	ZNF genes & repeats	Lung	lung
26	chr20:13279600-13280400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr20:13279600-13280800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr20:13280000-13280200	Enhancers	K562	blood
29	chr20:13280000-13284800	Weak transcription	Lung	lung
30	chr20:13280200-13281000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr20:13280200-13282600	Weak transcription	Adipose Nuclei	Adipose
32	chr20:13280200-13284200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr20:13280400-13281400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr20:13280400-13283400	Weak transcription	Spleen	Spleen
35	chr20:13280400-13284600	Weak transcription	Pancreas	Pancrea
36	chr20:13280600-13283000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr20:13280600-13283800	Weak transcription	Dnd41	blood
38	chr20:13280800-13284200	Enhancers	NHEK	skin
39	chr20:13280800-13286400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr20:13281000-13283400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr20:13281000-13287400	Weak transcription	Liver	Liver
42	chr20:13281200-13284200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr20:13281400-13281600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr20:13281400-13282800	Enhancers	HMEC	breast
45	chr20:13281400-13283200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr20:13281400-13284000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr20:13281600-13283200	Weak transcription	Placenta	Placenta
48	chr20:13282800-13284400	Enhancers	Fetal Intestine Large	intestine
49	chr20:13283000-13283800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr20:13283000-13284200	Enhancers	Fetal Intestine Small	intestine

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