Variant report

Variant	esv2182370
Chromosome Location	chr6:167417919-167418356
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	chr6:167411701..167414538-chr6:167414813..167420401,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000227598	chromatin interactions
ENSG00000213066	chromatin interactions
ENSG00000272980	chromatin interactions

Extended variants
information (count: 24 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372181150	chr6:167417926-167417927	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs373877546	chr6:167417928-167417929	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs367732297	chr6:167417934-167417935	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs79205895	chr6:167417935-167417936	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs550989637	chr6:167417970-167417971	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs569275694	chr6:167417984-167417985	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs192917663	chr6:167417995-167417996	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs558085803	chr6:167418001-167418002	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs566872828	chr6:167418005-167418006	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs534249601	chr6:167418027-167418028	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs553236582	chr6:167418037-167418038	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs574660861	chr6:167418042-167418043	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs200322615	chr6:167418110-167418111	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs368397331	chr6:167418111-167418112	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs372343413	chr6:167418168-167418169	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs375279862	chr6:167418169-167418170	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs367885940	chr6:167418170-167418171	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs145411976	chr6:167418180-167418181	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs34310464	chr6:167418203-167418204	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs542189264	chr6:167418276-167418277	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs556988202	chr6:167418284-167418285	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs113085956	chr6:167418312-167418313	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs531048857	chr6:167418325-167418326	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs73026206	chr6:167418355-167418356	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:83)

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
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
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Developmental delay	21147756	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	22522925	CNVD
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167413600-167419000	Weak transcription	Ovary	ovary
2	chr6:167413600-167419000	Weak transcription	Spleen	Spleen
3	chr6:167413600-167425000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:167413600-167425000	Weak transcription	Brain Substantia Nigra	brain
5	chr6:167413600-167425000	Weak transcription	Lung	lung
6	chr6:167413600-167425200	Weak transcription	Esophagus	oesophagus
7	chr6:167413600-167428600	Weak transcription	Aorta	Aorta
8	chr6:167413600-167428800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr6:167413600-167428800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:167413600-167438800	Weak transcription	Right Ventricle	heart
11	chr6:167413600-167449200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:167413600-167452400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr6:167413800-167419200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr6:167413800-167419200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr6:167413800-167436800	Weak transcription	HSMMtube	muscle
16	chr6:167414400-167418600	Weak transcription	A549	lung
17	chr6:167414400-167419000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr6:167414400-167419400	Weak transcription	Brain Hippocampus Middle	brain
19	chr6:167414600-167418000	Weak transcription	Adipose Nuclei	Adipose
20	chr6:167414600-167418600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr6:167414600-167418800	Weak transcription	Colon Smooth Muscle	Colon
22	chr6:167414600-167419000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:167414600-167419000	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr6:167414600-167419000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr6:167414600-167419000	Enhancers	Liver	Liver
26	chr6:167414600-167419000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr6:167414600-167419000	Weak transcription	Colonic Mucosa	Colon
28	chr6:167414600-167419000	Weak transcription	Right Atrium	heart
29	chr6:167414600-167419000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr6:167414600-167419000	Weak transcription	NHEK	skin
31	chr6:167414600-167419400	Weak transcription	NH-A	brain
32	chr6:167414600-167420400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr6:167414600-167420800	Strong transcription	HSMM	muscle
34	chr6:167414600-167424400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:167414600-167425000	Weak transcription	Brain Angular Gyrus	brain
36	chr6:167414600-167425000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr6:167414600-167425000	Weak transcription	NHLF	lung
38	chr6:167414600-167428600	Weak transcription	Fetal Brain Male	brain
39	chr6:167414600-167429200	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr6:167414600-167429200	Strong transcription	Primary B cells from cord blood	blood
41	chr6:167414600-167430400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr6:167414600-167433200	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr6:167414600-167440800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr6:167414600-167441000	Weak transcription	Psoas Muscle	Psoas
45	chr6:167414600-167448000	Weak transcription	Small Intestine	intestine
46	chr6:167414600-167450200	Weak transcription	Stomach Mucosa	stomach
47	chr6:167414800-167419000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr6:167414800-167419000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr6:167414800-167419000	Weak transcription	Fetal Stomach	stomach
50	chr6:167414800-167419000	Weak transcription	Rectal Smooth Muscle	rectum

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