Variant report

Variant	esv3393946
Chromosome Location	chr6:164435162-164439360
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 180 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:180 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549434160	chr6:164435199-164435200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs371002354	chr6:164435219-164435220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565108707	chr6:164435235-164435236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182619213	chr6:164435259-164435260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs375913127	chr6:164435260-164435261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548901874	chr6:164435285-164435286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568654203	chr6:164435324-164435325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574185145	chr6:164435357-164435358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547457416	chr6:164435358-164435359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141977088	chr6:164435401-164435402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144847172	chr6:164435431-164435432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539961236	chr6:164435464-164435465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556648393	chr6:164435498-164435499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187673344	chr6:164435509-164435510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535629496	chr6:164435510-164435511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs193220960	chr6:164435573-164435574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184617326	chr6:164435620-164435621	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs138762859	chr6:164435642-164435643	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs563933702	chr6:164435653-164435654	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs577169135	chr6:164435662-164435663	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs543132282	chr6:164435696-164435697	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs141693066	chr6:164435704-164435705	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs189504313	chr6:164435705-164435706	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs541152476	chr6:164435787-164435788	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs548496609	chr6:164435797-164435798	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs562446563	chr6:164435801-164435802	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs530745690	chr6:164435822-164435823	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs192052084	chr6:164435838-164435839	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs527987175	chr6:164435844-164435845	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs74551021	chr6:164435876-164435877	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs570881393	chr6:164435889-164435890	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs377224722	chr6:164435909-164435910	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs539808717	chr6:164435926-164435927	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs550332118	chr6:164435936-164435937	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs184369384	chr6:164435963-164435964	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs377192513	chr6:164435967-164435968	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs144545496	chr6:164435972-164435973	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs113269115	chr6:164435987-164435988	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs148465567	chr6:164435988-164435989	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs369970800	chr6:164435995-164435996	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs577256097	chr6:164436055-164436056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542995192	chr6:164436093-164436094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556686574	chr6:164436111-164436112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188350216	chr6:164436129-164436130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199580860	chr6:164436180-164436181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181343556	chr6:164436188-164436189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529604108	chr6:164436224-164436225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141672195	chr6:164436302-164436303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541376773	chr6:164436318-164436319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114105979	chr6:164436321-164436322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian cancer	22355333	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

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:164431600-164435800	Weak transcription	Right Atrium	heart
2	chr6:164431600-164442600	Weak transcription	Right Ventricle	heart
3	chr6:164431800-164435600	Weak transcription	Brain Angular Gyrus	brain
4	chr6:164432000-164435600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr6:164432000-164435600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr6:164432000-164436000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr6:164432000-164437200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:164432200-164435600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr6:164432200-164435600	Weak transcription	Brain Hippocampus Middle	brain
10	chr6:164432200-164435600	Weak transcription	Brain Substantia Nigra	brain
11	chr6:164432400-164435600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:164434600-164435200	Enhancers	NH-A	brain
13	chr6:164434600-164435600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:164434600-164436000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:164434800-164435200	Enhancers	Placenta Amnion	Placenta Amnion
16	chr6:164434800-164435400	Enhancers	HSMMtube	muscle
17	chr6:164434800-164435600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:164434800-164436800	Enhancers	Fetal Muscle Leg	muscle
19	chr6:164434800-164438200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr6:164435000-164435200	Enhancers	Psoas Muscle	Psoas
21	chr6:164435000-164435400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr6:164435000-164435600	Enhancers	Brain Anterior Caudate	brain
23	chr6:164435000-164438000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:164435200-164436600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr6:164435400-164436000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr6:164435400-164436000	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr6:164435400-164436600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr6:164435400-164437200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr6:164435600-164435800	Active TSS	Brain Hippocampus Middle	brain
30	chr6:164435600-164435800	Flanking Active TSS	Brain Substantia Nigra	brain
31	chr6:164435600-164435800	Enhancers	Stomach Smooth Muscle	stomach
32	chr6:164435600-164436000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr6:164435600-164436000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr6:164435600-164436000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr6:164435600-164436000	Active TSS	Brain Angular Gyrus	brain
36	chr6:164435600-164436000	Flanking Active TSS	Brain Anterior Caudate	brain
37	chr6:164435600-164436000	Flanking Active TSS	Fetal Muscle Trunk	muscle
38	chr6:164435600-164436000	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr6:164435600-164436600	Enhancers	H9 Cell Line	embryonic stem cell
40	chr6:164435600-164436800	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr6:164435600-164436800	Enhancers	H1 Cell Line	embryonic stem cell
42	chr6:164435600-164436800	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr6:164435600-164436800	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr6:164435600-164437200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr6:164435600-164437400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:164435600-164437800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr6:164435600-164439200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr6:164435800-164436000	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr6:164435800-164436000	Active TSS	Brain Substantia Nigra	brain
50	chr6:164435800-164436200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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