Variant report

Variant	esv3381762
Chromosome Location	chr20:11186416-11186706
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	chr20:10676677..10677565-chr20:11185885..11186708,3	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536449874	chr20:11186423-11186424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs77652934	chr20:11186440-11186441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574890840	chr20:11186441-11186442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569919542	chr20:11186442-11186443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189859812	chr20:11186466-11186467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558104619	chr20:11186500-11186501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577962228	chr20:11186651-11186652	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs6078099	chr20:11186652-11186653	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs553839161	chr20:11186653-11186654	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs573842608	chr20:11186660-11186661	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs112520864	chr20:11186704-11186705	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs150291404	chr20:11186706-11186707	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
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
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	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
Breast cancer	21804112	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Myelofibrosis	22110671	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	20409316	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:11184400-11188600	Weak transcription	Aorta	Aorta
2	chr20:11185200-11188200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr20:11185200-11190000	Enhancers	HMEC	breast
4	chr20:11185400-11188200	Enhancers	NHEK	skin
5	chr20:11185400-11189400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr20:11185400-11189600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr20:11185600-11186600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr20:11185600-11186800	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr20:11185600-11186800	Enhancers	Osteobl	bone
10	chr20:11185600-11187400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr20:11185600-11188000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr20:11185600-11189400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr20:11185600-11189600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr20:11185800-11186600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr20:11185800-11186600	Enhancers	Brain Hippocampus Middle	brain
16	chr20:11185800-11186600	Enhancers	Fetal Intestine Large	intestine
17	chr20:11185800-11186600	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr20:11185800-11186800	Enhancers	Adipose Nuclei	Adipose
19	chr20:11185800-11186800	Enhancers	Fetal Intestine Small	intestine
20	chr20:11186000-11186600	Enhancers	Brain Anterior Caudate	brain
21	chr20:11186000-11186600	Enhancers	Psoas Muscle	Psoas
22	chr20:11186000-11186800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr20:11186000-11186800	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr20:11186000-11186800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr20:11186000-11186800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr20:11186000-11186800	Enhancers	Fetal Stomach	stomach
27	chr20:11186000-11187000	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr20:11186000-11187400	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr20:11186000-11197000	Weak transcription	HSMM	muscle
30	chr20:11186200-11186600	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr20:11186200-11186600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr20:11186200-11186600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr20:11186200-11186600	Enhancers	Brain Cingulate Gyrus	brain
34	chr20:11186200-11186600	Enhancers	Small Intestine	intestine
35	chr20:11186200-11186600	Enhancers	A549	lung
36	chr20:11186200-11188400	Weak transcription	Colon Smooth Muscle	Colon
37	chr20:11186200-11188400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr20:11186200-11188600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr20:11186200-11188800	Weak transcription	Duodenum Mucosa	Duodenum
40	chr20:11186400-11186600	Enhancers	Pancreas	Pancrea
41	chr20:11186400-11186600	Enhancers	NH-A	brain
42	chr20:11186400-11187400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr20:11186400-11188000	Weak transcription	Stomach Mucosa	stomach
44	chr20:11186400-11188400	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr20:11186400-11192800	Weak transcription	Fetal Kidney	kidney
46	chr20:11186400-11193400	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr20:11186600-11186800	Flanking Active TSS	A549	lung
48	chr20:11186600-11188000	Weak transcription	NH-A	brain
49	chr20:11186600-11188200	Weak transcription	Fetal Intestine Large	intestine
50	chr20:11186600-11188400	Weak transcription	Brain Anterior Caudate	brain

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