Variant report

Variant	esv3409163
Chromosome Location	chr6:161857165-161857410
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 20 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560660108	chr6:161857175-161857176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs13219201	chr6:161857191-161857192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs13219205	chr6:161857199-161857200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs13205331	chr6:161857200-161857201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190337859	chr6:161857209-161857210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs111451150	chr6:161857226-161857227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs13219315	chr6:161857259-161857260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs13205446	chr6:161857271-161857272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs13219322	chr6:161857272-161857273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79784711	chr6:161857305-161857306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs75992512	chr6:161857306-161857307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs79968124	chr6:161857307-161857308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77027885	chr6:161857328-161857329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115714555	chr6:161857334-161857335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112967688	chr6:161857335-161857336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs13219359	chr6:161857355-161857356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148422238	chr6:161857359-161857360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113563342	chr6:161857363-161857364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569348259	chr6:161857369-161857370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs78308022	chr6:161857409-161857410	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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161855200-161857800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:161855200-161858000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:161855600-161857600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:161855600-161857600	Weak transcription	Pancreas	Pancrea
5	chr6:161855600-161864400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:161855800-161857600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr6:161855800-161860200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:161856000-161859800	Enhancers	NHDF-Ad	bronchial
9	chr6:161856000-161860000	Enhancers	NH-A	brain
10	chr6:161856000-161861600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr6:161856200-161859800	Enhancers	Brain Germinal Matrix	brain
12	chr6:161856200-161860200	Weak transcription	Left Ventricle	heart
13	chr6:161856400-161857600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr6:161856400-161858200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr6:161856400-161858400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr6:161856400-161860000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr6:161856400-161860000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr6:161856400-161860200	Weak transcription	Ovary	ovary
19	chr6:161856600-161857600	Weak transcription	Brain Hippocampus Middle	brain
20	chr6:161856600-161857600	Weak transcription	HSMM	muscle
21	chr6:161856600-161857600	Weak transcription	NHLF	lung
22	chr6:161856600-161857800	Weak transcription	HSMMtube	muscle
23	chr6:161856600-161858800	Enhancers	Adipose Nuclei	Adipose
24	chr6:161856600-161859600	Weak transcription	Brain Anterior Caudate	brain
25	chr6:161856600-161859600	Weak transcription	Brain Substantia Nigra	brain
26	chr6:161856600-161859800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr6:161856600-161859800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr6:161856600-161859800	Weak transcription	Brain Angular Gyrus	brain
29	chr6:161856600-161859800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr6:161856600-161860000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr6:161856600-161866200	Weak transcription	Psoas Muscle	Psoas
32	chr6:161856800-161857400	Weak transcription	A549	lung
33	chr6:161856800-161857600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr6:161856800-161857800	Weak transcription	Fetal Kidney	kidney
35	chr6:161856800-161858600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr6:161856800-161859600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr6:161856800-161859600	Weak transcription	Fetal Brain Female	brain
38	chr6:161856800-161859800	Weak transcription	Fetal Brain Male	brain
39	chr6:161856800-161860000	Weak transcription	Rectal Smooth Muscle	rectum
40	chr6:161856800-161860000	Weak transcription	Stomach Smooth Muscle	stomach
41	chr6:161856800-161860000	Weak transcription	Osteobl	bone
42	chr6:161856800-161860200	Weak transcription	Colon Smooth Muscle	Colon
43	chr6:161856800-161861400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr6:161857000-161857400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:161857000-161857400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr6:161857000-161857400	Weak transcription	HMEC	breast
47	chr6:161857000-161857600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr6:161857000-161857600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr6:161857000-161858400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr6:161857000-161858600	Enhancers	Skeletal Muscle Male	skeletal muscle

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