Variant report

Variant	esv3324364
Chromosome Location	chr6:161856187-161858510
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:161087670..161090609-chr6:161855286..161856788,2	MCF-7	breast:
2	chr6:161855024..161858360-chr6:161858723..161860898,4	MCF-7	breast:
3	chr6:161855223..161857273-chr6:161905432..161907491,2	MCF-7	breast:
4	chr6:161827499..161830369-chr6:161855859..161857703,2	MCF-7	breast:
5	chr5:153090609..153093589-chr6:161855798..161858427,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196542	chromatin interactions

Extended variants
information (count: 126 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563760935	chr6:161856211-161856212	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs186470512	chr6:161856222-161856223	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs114425544	chr6:161856266-161856267	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs189288683	chr6:161856278-161856279	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs529511174	chr6:161856312-161856313	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs370670330	chr6:161856347-161856348	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs138119430	chr6:161856377-161856378	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs367879735	chr6:161856378-161856379	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs566142587	chr6:161856395-161856396	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs535142169	chr6:161856396-161856397	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs551775707	chr6:161856423-161856424	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs571703047	chr6:161856428-161856429	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs539710513	chr6:161856478-161856479	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs144087284	chr6:161856557-161856558	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs9346853	chr6:161856562-161856563	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs180962228	chr6:161856586-161856587	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs185957096	chr6:161856603-161856604	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs9365289	chr6:161856631-161856632	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs190731320	chr6:161856666-161856667	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs537331856	chr6:161856676-161856677	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs540756356	chr6:161856677-161856678	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs569204751	chr6:161856740-161856741	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs577610220	chr6:161856816-161856817	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs55785515	chr6:161856825-161856826	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs377437361	chr6:161856830-161856831	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs563784416	chr6:161856886-161856887	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs529603120	chr6:161856889-161856890	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs549570030	chr6:161856917-161856918	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs12196023	chr6:161856970-161856971	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs12216070	chr6:161856972-161856973	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs183370083	chr6:161856987-161856988	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs112108227	chr6:161857000-161857001	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs77031563	chr6:161857019-161857020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs9364596	chr6:161857029-161857030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs9346854	chr6:161857034-161857035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs9346855	chr6:161857046-161857047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185879432	chr6:161857056-161857057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs185469098	chr6:161857061-161857062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs201671522	chr6:161857072-161857073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs111730399	chr6:161857083-161857084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs111832469	chr6:161857105-161857106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553172650	chr6:161857122-161857123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs145039476	chr6:161857137-161857138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs62435941	chr6:161857143-161857144	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs551943941	chr6:161857155-161857156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560660108	chr6:161857175-161857176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs13219201	chr6:161857191-161857192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs13219205	chr6:161857199-161857200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs13205331	chr6:161857200-161857201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs190337859	chr6:161857209-161857210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	20838587	CNVD
Early-onset parkinson disease	21993715	CNVD
Glioblastoma	18772890	CNVD
Pancreatic cancer	20981101	CNVD
Autism	21360662	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	22102821	CNVD
Parkinson disease	0	CNVD

Chromatin state (count:167 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161854600-161856200	Enhancers	NHLF	lung
2	chr6:161855000-161856800	Enhancers	Fetal Stomach	stomach
3	chr6:161855200-161856400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr6:161855200-161856400	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr6:161855200-161856400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:161855200-161856400	Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr6:161855200-161856600	Active TSS	Psoas Muscle	Psoas
8	chr6:161855200-161856800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:161855200-161856800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:161855200-161856800	Enhancers	Fetal Lung	lung
11	chr6:161855200-161856800	Enhancers	NHEK	skin
12	chr6:161855200-161857000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr6:161855200-161857800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:161855200-161858000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:161855400-161856200	Enhancers	Left Ventricle	heart
16	chr6:161855400-161856200	Enhancers	Small Intestine	intestine
17	chr6:161855400-161856400	Active TSS	Aorta	Aorta
18	chr6:161855400-161856400	Flanking Active TSS	HSMMtube	muscle
19	chr6:161855400-161856600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr6:161855400-161856800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:161855400-161856800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:161855400-161856800	Enhancers	Fetal Intestine Large	intestine
23	chr6:161855400-161856800	Enhancers	Fetal Kidney	kidney
24	chr6:161855400-161856800	Enhancers	Rectal Smooth Muscle	rectum
25	chr6:161855400-161857000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr6:161855400-161857000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr6:161855400-161857000	Enhancers	Fetal Muscle Leg	muscle
28	chr6:161855600-161856400	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr6:161855600-161856600	Enhancers	Brain Angular Gyrus	brain
30	chr6:161855600-161856600	Weak transcription	Fetal Muscle Trunk	muscle
31	chr6:161855600-161856800	Enhancers	Fetal Intestine Small	intestine
32	chr6:161855600-161857000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr6:161855600-161857000	Enhancers	HMEC	breast
34	chr6:161855600-161857600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:161855600-161857600	Weak transcription	Pancreas	Pancrea
36	chr6:161855600-161864400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr6:161855800-161856200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr6:161855800-161856200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr6:161855800-161856200	Enhancers	Brain Hippocampus Middle	brain
40	chr6:161855800-161856200	Weak transcription	Ovary	ovary
41	chr6:161855800-161856200	Active TSS	HSMM	muscle
42	chr6:161855800-161856400	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr6:161855800-161856400	Active TSS	Right Atrium	heart
44	chr6:161855800-161856600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr6:161855800-161856800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr6:161855800-161856800	Enhancers	Fetal Heart	heart
47	chr6:161855800-161856800	Enhancers	Osteobl	bone
48	chr6:161855800-161857600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr6:161855800-161860200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr6:161856000-161856200	Enhancers	Cortex derived primary cultured neurospheres	brain

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