Variant report

Variant	nsv886837
Chromosome Location	chr6:162244325-162302567
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:162274815..162277621-chr6:162282085..162283805,2	K562	blood:
2	chr6:162274815..162277621-chr6:162282085..162283805,2	K562	blood:
3	chr6:162258117..162258784-chr6:162338530..162339165,2	MCF-7	breast:
4	chr6:162291697..162293198-chr6:162305600..162307370,2	K562	blood:
5	chr6:162258059..162258779-chr6:162552660..162553528,2	MCF-7	breast:

Extended variants
information (count: 2620 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:2620 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9458392	chr6:162244325-162244326	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs575397730	chr6:162244332-162244333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544124012	chr6:162244334-162244335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560839306	chr6:162244429-162244430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529971705	chr6:162244455-162244456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539955075	chr6:162244462-162244463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548938150	chr6:162244465-162244466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs9346882	chr6:162244471-162244472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143004468	chr6:162244474-162244475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528537878	chr6:162244475-162244476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138599752	chr6:162244491-162244492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549771326	chr6:162244545-162244546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571698952	chr6:162244551-162244552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs116504145	chr6:162244569-162244570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551232633	chr6:162244615-162244616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567940800	chr6:162244621-162244622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560097548	chr6:162244636-162244637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140311855	chr6:162244685-162244686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs9346883	chr6:162244693-162244694	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs552967066	chr6:162244696-162244697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191466040	chr6:162244718-162244719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560825725	chr6:162244765-162244766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145344612	chr6:162244779-162244780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558615121	chr6:162244858-162244859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534911778	chr6:162244885-162244886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184120901	chr6:162244899-162244900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs116243899	chr6:162244900-162244901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs138439537	chr6:162244902-162244903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574355958	chr6:162244941-162244942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540146098	chr6:162244959-162244960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559277500	chr6:162244967-162244968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141937740	chr6:162244996-162244997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565366685	chr6:162245016-162245017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150697074	chr6:162245077-162245078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551170655	chr6:162245142-162245143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs368835693	chr6:162245145-162245146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574682229	chr6:162245155-162245156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543228561	chr6:162245173-162245174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567871780	chr6:162245174-162245175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536908203	chr6:162245181-162245182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs376689816	chr6:162245183-162245184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528943032	chr6:162245184-162245185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs138929658	chr6:162245190-162245191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567099620	chr6:162245219-162245220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189878459	chr6:162245237-162245238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558304163	chr6:162245338-162245339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6455776	chr6:162245341-162245342	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs537564662	chr6:162245384-162245385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149351260	chr6:162245437-162245438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114653594	chr6:162245457-162245458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	20838587	CNVD
Early-onset parkinson disease	21993715	CNVD
Glioblastoma	18772890	CNVD
Pancreatic cancer	20981101	CNVD
Autism	21360662	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	22102821	CNVD
Parkinson disease	0	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:298 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162243600-162244400	Weak transcription	Fetal Brain Male	brain
2	chr6:162244400-162245200	Enhancers	Fetal Brain Male	brain
3	chr6:162245000-162245200	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr6:162245200-162246600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr6:162245200-162247600	Weak transcription	Fetal Brain Male	brain
6	chr6:162246600-162246800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr6:162246800-162247600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr6:162247600-162248400	Enhancers	Fetal Brain Male	brain
9	chr6:162247600-162250200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr6:162247800-162248000	Enhancers	Primary hematopoietic stem cells	blood
11	chr6:162247800-162248000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:162248000-162248400	Enhancers	Fetal Brain Female	brain
13	chr6:162248000-162249000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr6:162248200-162249200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr6:162248400-162250400	Weak transcription	Fetal Brain Male	brain
16	chr6:162248400-162256800	Weak transcription	Fetal Brain Female	brain
17	chr6:162249000-162249200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:162249000-162255600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:162249200-162249600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:162249200-162253600	Enhancers	Primary hematopoietic stem cells	blood
21	chr6:162249400-162249600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr6:162249400-162249800	Enhancers	Fetal Muscle Trunk	muscle
23	chr6:162249400-162251200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr6:162249400-162251200	Enhancers	Brain Hippocampus Middle	brain
25	chr6:162249600-162250200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr6:162249600-162251200	Enhancers	Thymus	Thymus
27	chr6:162249600-162252000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:162249600-162252400	Enhancers	Fetal Thymus	thymus
29	chr6:162249800-162251200	Enhancers	Brain Substantia Nigra	brain
30	chr6:162250000-162250200	Enhancers	H9 Cell Line	embryonic stem cell
31	chr6:162250000-162251200	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr6:162250200-162250400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr6:162250200-162250400	Enhancers	Brain Angular Gyrus	brain
34	chr6:162250200-162250400	Enhancers	Brain Anterior Caudate	brain
35	chr6:162250200-162250800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr6:162250200-162250800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr6:162250200-162250800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr6:162250200-162251200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:162250200-162251200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr6:162250400-162250800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr6:162250400-162250800	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr6:162250400-162250800	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr6:162250400-162250800	Flanking Active TSS	Brain Angular Gyrus	brain
44	chr6:162250400-162250800	Flanking Active TSS	Brain Anterior Caudate	brain
45	chr6:162250400-162250800	Enhancers	Brain Cingulate Gyrus	brain
46	chr6:162250400-162250800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr6:162250400-162250800	Enhancers	NH-A	brain
48	chr6:162250400-162251000	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr6:162250400-162251200	Enhancers	Primary T cells from cord blood	blood
50	chr6:162250400-162251200	Enhancers	Fetal Brain Male	brain

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