Variant report

Variant	nsv605192
Chromosome Location	chr6:163750567-163750675
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	chr6:163746176..163748803-chr6:163750592..163752123,2	K562	blood:
2	chr6:163750296..163752103-chr6:163834031..163836174,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270419	chromatin interactions
ENSG00000112531	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138500939	chr6:163750568-163750569	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs112889594	chr6:163750572-163750573	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs13215570	chr6:163750573-163750574	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs13215577	chr6:163750579-163750580	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs190341928	chr6:163750592-163750593	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs377558067	chr6:163750595-163750596	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs13204000	chr6:163750602-163750603	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs13215585	chr6:163750608-163750609	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs13215595	chr6:163750619-163750620	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs200923922	chr6:163750621-163750622	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs142386252	chr6:163750622-163750623	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs202026406	chr6:163750624-163750625	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs199925815	chr6:163750626-163750627	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs150538894	chr6:163750637-163750638	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs201273935	chr6:163750642-163750643	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs529171733	chr6:163750649-163750650	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs202226364	chr6:163750651-163750652	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs111741391	chr6:163750655-163750656	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs547241225	chr6:163750656-163750657	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs139491404	chr6:163750666-163750667	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs575880973	chr6:163750668-163750669	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

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

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163744200-163751000	Weak transcription	Right Atrium	heart
2	chr6:163745000-163753200	Weak transcription	Right Ventricle	heart
3	chr6:163745200-163767000	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr6:163745600-163773600	Enhancers	Brain Substantia Nigra	brain
5	chr6:163745800-163754000	Enhancers	Brain Angular Gyrus	brain
6	chr6:163746400-163755200	Weak transcription	Psoas Muscle	Psoas
7	chr6:163746600-163750800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:163746600-163750800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr6:163746600-163750800	Weak transcription	Adipose Nuclei	Adipose
10	chr6:163746600-163750800	Weak transcription	NH-A	brain
11	chr6:163746600-163751000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr6:163746600-163751200	Weak transcription	Fetal Heart	heart
13	chr6:163746600-163753400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr6:163746600-163759400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:163746600-163759800	Enhancers	Brain Anterior Caudate	brain
16	chr6:163746600-163759800	Enhancers	Brain Hippocampus Middle	brain
17	chr6:163746600-163764400	Enhancers	Brain Cingulate Gyrus	brain
18	chr6:163746800-163751000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:163746800-163751000	Weak transcription	HSMM	muscle
20	chr6:163746800-163754200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr6:163747400-163750800	Weak transcription	A549	lung
22	chr6:163748600-163752400	Enhancers	Fetal Muscle Leg	muscle
23	chr6:163748600-163756600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr6:163748800-163750800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:163749400-163751000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr6:163749800-163750600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr6:163749800-163750800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr6:163749800-163750800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr6:163749800-163751000	Weak transcription	Left Ventricle	heart
30	chr6:163749800-163751000	Weak transcription	Spleen	Spleen
31	chr6:163749800-163751600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr6:163750000-163751000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr6:163750200-163750600	Weak transcription	Fetal Muscle Trunk	muscle
34	chr6:163750400-163750800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr6:163750400-163751800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr6:163750400-163753600	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr6:163750600-163751200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr6:163750600-163751800	Enhancers	Fetal Muscle Trunk	muscle

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