Variant report

Variant	esv5229
Chromosome Location	chr6:161511383-161511963
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:161511089..161513012-chr6:161515943..161518667,2	K562	blood:
2	chr6:161507039..161509332-chr6:161510281..161512567,2	K562	blood:
3	chr6:161510855..161513231-chr6:161523974..161526472,2	K562	blood:
4	chr6:161509152..161511897-chr6:161521324..161523169,2	K562	blood:

Variant related genes	Relation type
ENSG00000085511	chromatin interactions

Extended variants
information (count: 38 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541775352	chr6:161511392-161511393	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs9365250	chr6:161511425-161511426	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs191181017	chr6:161511436-161511437	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs113827882	chr6:161511461-161511462	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs560217568	chr6:161511465-161511466	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs150763851	chr6:161511466-161511467	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs552105621	chr6:161511493-161511494	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs568923743	chr6:161511516-161511517	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs111850924	chr6:161511520-161511521	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs569744514	chr6:161511521-161511522	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs149952013	chr6:161511530-161511531	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs9365251	chr6:161511558-161511559	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs111322907	chr6:161511582-161511583	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs533797877	chr6:161511610-161511611	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs74946931	chr6:161511615-161511616	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs59258506	chr6:161511639-161511640	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs71004027	chr6:161511640-161511641	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs548041078	chr6:161511655-161511656	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs13196611	chr6:161511677-161511678	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs113749148	chr6:161511710-161511711	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs13215598	chr6:161511725-161511726	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs539982628	chr6:161511733-161511734	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs113181629	chr6:161511734-161511735	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs34078202	chr6:161511743-161511744	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs35590347	chr6:161511745-161511746	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs34940080	chr6:161511748-161511749	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs555477194	chr6:161511762-161511763	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs572088136	chr6:161511765-161511766	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs112157357	chr6:161511772-161511773	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs112203265	chr6:161511805-161511806	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs576165244	chr6:161511819-161511820	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs9355871	chr6:161511829-161511830	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs112327314	chr6:161511838-161511839	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs577074528	chr6:161511839-161511840	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs546122743	chr6:161511911-161511912	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs549082830	chr6:161511935-161511936	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs35635940	chr6:161511937-161511938	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs562660937	chr6:161511948-161511949	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
low-grade B-cell lymphoma tumor	18367492	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
Breast cancer	22522925	CNVD

Chromatin state (count:141 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161486200-161519200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:161491000-161538400	Strong transcription	Primary B cells from peripheral blood	blood
3	chr6:161491600-161516400	Strong transcription	Placenta	Placenta
4	chr6:161491600-161525400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr6:161491600-161528800	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr6:161491600-161529000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr6:161491600-161539800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr6:161492200-161513800	Strong transcription	Fetal Intestine Large	intestine
9	chr6:161493800-161521400	Strong transcription	Fetal Thymus	thymus
10	chr6:161494400-161512600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr6:161494400-161513400	Strong transcription	Sigmoid Colon	Sigmoid Colon
12	chr6:161494400-161515400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr6:161494400-161525600	Strong transcription	Dnd41	blood
14	chr6:161494400-161542400	Strong transcription	Duodenum Mucosa	Duodenum
15	chr6:161494800-161513800	Strong transcription	Fetal Brain Female	brain
16	chr6:161495000-161512800	Strong transcription	Ovary	ovary
17	chr6:161495000-161513400	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr6:161495200-161513200	Strong transcription	Fetal Muscle Trunk	muscle
19	chr6:161495200-161538000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr6:161495400-161512600	Strong transcription	Fetal Stomach	stomach
21	chr6:161495400-161515400	Strong transcription	Fetal Lung	lung
22	chr6:161495400-161516400	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr6:161495600-161512800	Strong transcription	Fetal Muscle Leg	muscle
24	chr6:161496000-161539800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:161497000-161512600	Strong transcription	Thymus	Thymus
26	chr6:161497000-161513000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr6:161497800-161539600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr6:161498000-161541800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr6:161498200-161515400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr6:161498600-161525600	Strong transcription	Primary T cells from cord blood	blood
31	chr6:161499000-161512800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr6:161499000-161531800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr6:161499200-161515400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr6:161499200-161517000	Strong transcription	Stomach Smooth Muscle	stomach
35	chr6:161499800-161515600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr6:161499800-161521600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr6:161500200-161540400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr6:161500400-161515400	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr6:161500400-161517000	Strong transcription	Liver	Liver
40	chr6:161500400-161525600	Strong transcription	Adipose Nuclei	Adipose
41	chr6:161500600-161513400	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr6:161500600-161539800	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr6:161500600-161541800	Strong transcription	K562	blood
44	chr6:161500800-161511600	Strong transcription	Brain Hippocampus Middle	brain
45	chr6:161500800-161515400	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr6:161500800-161538200	Strong transcription	Primary B cells from cord blood	blood
47	chr6:161501000-161513200	Strong transcription	Left Ventricle	heart
48	chr6:161501000-161515800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr6:161501000-161517000	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr6:161501200-161516000	Strong transcription	HUES48 Cell Line	embryonic stem cell

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