Variant report

Variant	esv18186
Chromosome Location	chr6:163755135-163755860
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:163753262..163755789-chr6:163835091..163838973,3	K562	blood:
2	chr6:163745590..163748829-chr6:163752310..163756417,4	MCF-7	breast:
3	chr6:163755571..163762023-chr6:163831891..163837157,6	MCF-7	breast:
4	chr6:163751446..163754906-chr6:163755143..163760328,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL078585.1-12	chr6:163755670-163755925	predAs_ge08_QKI_1

Variant related genes	Relation type
ENSG00000112531	chromatin interactions
ENSG00000270419	chromatin interactions

Extended variants
information (count: 34 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9458807	chr6:163755148-163755149	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs532653064	chr6:163755175-163755176	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs552434932	chr6:163755212-163755213	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs569021361	chr6:163755228-163755229	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs146468998	chr6:163755234-163755235	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs9458808	chr6:163755252-163755253	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs554291661	chr6:163755283-163755284	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs568281564	chr6:163755287-163755288	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs189673950	chr6:163755301-163755302	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs34418608	chr6:163755302-163755303	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs111977543	chr6:163755319-163755320	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs576477551	chr6:163755356-163755357	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs11759068	chr6:163755357-163755358	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs79869988	chr6:163755391-163755392	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs180886829	chr6:163755426-163755427	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs138055552	chr6:163755483-163755484	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs9456856	chr6:163755493-163755494	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs575219139	chr6:163755561-163755562	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs186115249	chr6:163755562-163755563	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs370235703	chr6:163755579-163755580	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs550926366	chr6:163755615-163755616	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs200956830	chr6:163755646-163755647	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs560489002	chr6:163755647-163755648	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs532588660	chr6:163755672-163755673	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
25	rs373361411	chr6:163755692-163755693	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
26	rs552621863	chr6:163755706-163755707	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
27	rs562865534	chr6:163755771-163755772	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
28	rs12201522	chr6:163755772-163755773	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs78105405	chr6:163755774-163755775	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
30	rs567968402	chr6:163755787-163755788	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
31	rs9458809	chr6:163755816-163755817	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs547328156	chr6:163755828-163755829	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
33	rs9456857	chr6:163755839-163755840	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs539090072	chr6:163755857-163755858	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

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

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163745200-163767000	Enhancers	Brain Inferior Temporal Lobe	brain
2	chr6:163745600-163773600	Enhancers	Brain Substantia Nigra	brain
3	chr6:163746400-163755200	Weak transcription	Psoas Muscle	Psoas
4	chr6:163746600-163759400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:163746600-163759800	Enhancers	Brain Anterior Caudate	brain
6	chr6:163746600-163759800	Enhancers	Brain Hippocampus Middle	brain
7	chr6:163746600-163764400	Enhancers	Brain Cingulate Gyrus	brain
8	chr6:163748600-163756600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr6:163751600-163755200	Weak transcription	Fetal Heart	heart
10	chr6:163751600-163755800	Weak transcription	HUVEC	blood vessel
11	chr6:163751600-163756600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr6:163751600-163756800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr6:163751600-163759200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:163751600-163759400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:163752400-163756200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:163752600-163755200	Weak transcription	Right Atrium	heart
17	chr6:163752600-163758200	Enhancers	Adipose Nuclei	Adipose
18	chr6:163752800-163756000	Weak transcription	Colon Smooth Muscle	Colon
19	chr6:163753200-163755200	Weak transcription	Spleen	Spleen
20	chr6:163753400-163755400	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr6:163753400-163756400	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr6:163753600-163759000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr6:163754000-163755400	Weak transcription	Brain Angular Gyrus	brain
24	chr6:163754200-163757400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:163754200-163760000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:163754400-163756200	Enhancers	Fetal Kidney	kidney
27	chr6:163754400-163758200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr6:163754400-163760400	Enhancers	Fetal Muscle Trunk	muscle
29	chr6:163754600-163760200	Enhancers	Left Ventricle	heart
30	chr6:163754600-163760800	Enhancers	Fetal Muscle Leg	muscle
31	chr6:163754800-163755800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr6:163754800-163757200	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr6:163755000-163756800	Enhancers	NHDF-Ad	bronchial
34	chr6:163755000-163757600	Enhancers	Fetal Lung	lung
35	chr6:163755000-163757800	Enhancers	Placenta	Placenta
36	chr6:163755000-163758400	Enhancers	Right Ventricle	heart
37	chr6:163755000-163760200	Enhancers	Lung	lung
38	chr6:163755200-163756800	Enhancers	Osteobl	bone
39	chr6:163755200-163757200	Enhancers	Fetal Heart	heart
40	chr6:163755200-163758000	Enhancers	Spleen	Spleen
41	chr6:163755200-163758200	Enhancers	Right Atrium	heart
42	chr6:163755200-163758400	Enhancers	Psoas Muscle	Psoas
43	chr6:163755400-163755600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr6:163755400-163755600	Enhancers	Stomach Smooth Muscle	stomach
45	chr6:163755400-163755600	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr6:163755400-163759800	Enhancers	Brain Angular Gyrus	brain
47	chr6:163755600-163755800	Bivalent Enhancer	K562	blood
48	chr6:163755600-163756000	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr6:163755600-163756200	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr6:163755800-163756000	Bivalent Enhancer	HepG2	liver

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