Variant report

Variant	esv2750737
Chromosome Location	chr6:163910230-163910954
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	chr6:163906185..163908152-chr6:163909276..163911909,3	MCF-7	breast:
2	chr6:163906959..163909795-chr6:163909978..163912213,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6931903	chr6:163910325-163910326	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs369761461	chr6:163910326-163910327	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528365787	chr6:163910346-163910347	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185381291	chr6:163910365-163910366	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs34015557	chr6:163910396-163910397	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141470649	chr6:163910399-163910400	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372738268	chr6:163910457-163910458	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551680142	chr6:163910458-163910459	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550797514	chr6:163910480-163910481	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536694115	chr6:163910514-163910515	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140876808	chr6:163910520-163910521	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541761782	chr6:163910529-163910530	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190237867	chr6:163910556-163910557	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143600230	chr6:163910559-163910560	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs147991256	chr6:163910560-163910561	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182091477	chr6:163910597-163910598	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572577080	chr6:163910778-163910779	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527419356	chr6:163910825-163910826	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541694126	chr6:163910827-163910828	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34799812	chr6:163910843-163910844	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558537666	chr6:163910856-163910857	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141632983	chr6:163910861-163910862	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543850872	chr6:163910864-163910865	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150496956	chr6:163910872-163910873	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs529411725	chr6:163910878-163910879	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138604521	chr6:163910927-163910928	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian cancer	22355333	CNVD
abnormal development	18461090	CNVD
Breast cancer	22522925	CNVD
Epilepsy	22083797	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163881800-163910800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:163890800-163911400	Weak transcription	Osteobl	bone
3	chr6:163892200-163911400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr6:163892600-163910400	Weak transcription	HMEC	breast
5	chr6:163893000-163912800	Weak transcription	Fetal Brain Male	brain
6	chr6:163893400-163912000	Weak transcription	Fetal Lung	lung
7	chr6:163896600-163910800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr6:163898400-163911600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:163898400-163926000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:163899600-163910400	Weak transcription	NHLF	lung
11	chr6:163899800-163911000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr6:163899800-163911600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:163901000-163910400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:163901600-163910400	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr6:163902200-163913600	Enhancers	Brain Anterior Caudate	brain
16	chr6:163902600-163921800	Weak transcription	HepG2	liver
17	chr6:163902800-163912200	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr6:163903000-163915000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr6:163903000-163924200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr6:163903200-163910600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:163903400-163910400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:163903600-163911400	Weak transcription	Fetal Thymus	thymus
23	chr6:163903600-163926000	Weak transcription	Lung	lung
24	chr6:163903800-163912200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:163904000-163917400	Weak transcription	Fetal Muscle Leg	muscle
26	chr6:163904800-163910400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr6:163904800-163910400	Weak transcription	NHDF-Ad	bronchial
28	chr6:163904800-163912200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr6:163905000-163918400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr6:163905200-163910400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr6:163905200-163910800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:163905200-163915400	Enhancers	Fetal Heart	heart
33	chr6:163905800-163921800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr6:163906400-163912200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:163906400-163912200	Enhancers	Adipose Nuclei	Adipose
36	chr6:163906400-163912200	Enhancers	Brain Angular Gyrus	brain
37	chr6:163906600-163912400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr6:163906800-163910400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr6:163906800-163916800	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr6:163906800-163919400	Weak transcription	Ovary	ovary
41	chr6:163907000-163911600	Weak transcription	Gastric	stomach
42	chr6:163907000-163913400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr6:163907200-163911200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr6:163907200-163912400	Enhancers	Brain Substantia Nigra	brain
45	chr6:163907200-163915400	Weak transcription	Right Ventricle	heart
46	chr6:163907200-163925000	Weak transcription	Fetal Muscle Trunk	muscle
47	chr6:163907200-163926000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr6:163907600-163913200	Enhancers	Brain Cingulate Gyrus	brain
49	chr6:163907800-163912000	Enhancers	Brain Germinal Matrix	brain
50	chr6:163908000-163910600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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