Variant report

Variant	nsv886855
Chromosome Location	chr6:162597952-162895752
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:162763017..162765353-chr6:162767098..162769301,2	K562	blood:
2	chr6:162768506..162770213-chr6:162786241..162788330,2	K562	blood:
3	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
4	chr6:162721411..162723925-chr6:162726328..162729326,2	K562	blood:
5	chr6:162763017..162765353-chr6:162767098..162769301,2	K562	blood:
6	chr6:162671180..162673472-chr6:162808694..162811227,2	K562	blood:
7	chr6:162820265..162823089-chr6:162827852..162829559,2	K562	blood:
8	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
9	chr6:162721411..162723925-chr6:162726328..162729326,2	K562	blood:
10	chr6:162666890..162668464-chr6:162670216..162671922,2	K562	blood:
11	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:
12	chr6:162768506..162770213-chr6:162786241..162788330,2	K562	blood:
13	chr6:162671180..162673472-chr6:162808694..162811227,2	K562	blood:
14	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
15	chr6:162799485..162803733-chr6:162804296..162807777,5	K562	blood:
16	chr6:162863367..162864320-chr6:163157771..163158572,4	MCF-7	breast:
17	chr6:162863816..162864618-chr6:163271757..163272511,2	MCF-7	breast:
18	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:
19	chr6:162820265..162823089-chr6:162827852..162829559,2	K562	blood:
20	chr6:162666890..162668464-chr6:162670216..162671922,2	K562	blood:
21	chr6:162799485..162803733-chr6:162804296..162807777,5	K562	blood:
22	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
23	chr6:162661286..162663139-chr6:162673530..162675376,2	K562	blood:
24	chr6:162661286..162663139-chr6:162673530..162675376,2	K562	blood:

No data

Extended variants
information (count: 12553 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:12553 , 50 per page) page: 1 2 3 4 5 6 7 ... 252

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs952901	chr6:162597952-162597953	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs78513344	chr6:162597958-162597959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs5881458	chr6:162597961-162597962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs5881459	chr6:162597974-162597975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs33926814	chr6:162597975-162597976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201237857	chr6:162597976-162597977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139432746	chr6:162598022-162598023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542277428	chr6:162598028-162598029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529565190	chr6:162598067-162598068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113175172	chr6:162598076-162598077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375917080	chr6:162598110-162598111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4132024	chr6:162598149-162598150	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs528240706	chr6:162598162-162598163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551279927	chr6:162598171-162598172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571553496	chr6:162598173-162598174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577399130	chr6:162598185-162598186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544744957	chr6:162598188-162598189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6941378	chr6:162598215-162598216	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs550222460	chr6:162598242-162598243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12202701	chr6:162598251-162598252	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs111912434	chr6:162598293-162598294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546836027	chr6:162598320-162598321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78276413	chr6:162598333-162598334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73783437	chr6:162598379-162598380	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs566038719	chr6:162598381-162598382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9458472	chr6:162598419-162598420	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs9456749	chr6:162598430-162598431	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs9458473	chr6:162598439-162598440	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs543677120	chr6:162598446-162598447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556552360	chr6:162598483-162598484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573259541	chr6:162598496-162598497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542315945	chr6:162598500-162598501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6942112	chr6:162598590-162598591	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs142654678	chr6:162598593-162598594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546203506	chr6:162598613-162598614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78335332	chr6:162598625-162598626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189946253	chr6:162598626-162598627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576958020	chr6:162598628-162598629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182896664	chr6:162598634-162598635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530842743	chr6:162598665-162598666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550853862	chr6:162598679-162598680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187358768	chr6:162598726-162598727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529354505	chr6:162598736-162598737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79656905	chr6:162598754-162598755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372969232	chr6:162598811-162598812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12205861	chr6:162598813-162598814	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs538326950	chr6:162598820-162598821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566197353	chr6:162598851-162598852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs193294848	chr6:162598927-162598928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9458474	chr6:162598931-162598932	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:106)

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
Parkinson disease	21829596	CNVD
Gastric cancer	22315472	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Autism	22495309	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian cancer	22355333	CNVD
Schizophrenia	19805367	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:969 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162591200-162607600	Weak transcription	Right Atrium	heart
2	chr6:162591800-162599800	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr6:162594400-162600000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr6:162596200-162599000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr6:162596800-162599400	Weak transcription	Psoas Muscle	Psoas
6	chr6:162598600-162599600	Enhancers	Brain Anterior Caudate	brain
7	chr6:162598600-162599600	Enhancers	Brain Substantia Nigra	brain
8	chr6:162598600-162600000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:162598600-162600000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:162598600-162600200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr6:162598600-162600600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr6:162598600-162601200	Enhancers	Fetal Heart	heart
13	chr6:162598800-162599000	Enhancers	Lung	lung
14	chr6:162598800-162599200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr6:162598800-162599400	Enhancers	NH-A	brain
16	chr6:162598800-162599600	Enhancers	Right Ventricle	heart
17	chr6:162598800-162599800	Enhancers	Brain Hippocampus Middle	brain
18	chr6:162598800-162600200	Enhancers	Brain Germinal Matrix	brain
19	chr6:162598800-162600600	Enhancers	Fetal Muscle Leg	muscle
20	chr6:162599000-162599400	Enhancers	Fetal Lung	lung
21	chr6:162599000-162599600	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr6:162599000-162599800	Enhancers	Brain Cingulate Gyrus	brain
23	chr6:162599000-162600800	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr6:162599000-162601400	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr6:162599000-162603400	Weak transcription	Lung	lung
26	chr6:162599200-162602600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr6:162599400-162600600	Enhancers	Fetal Muscle Trunk	muscle
28	chr6:162599400-162600600	Enhancers	Left Ventricle	heart
29	chr6:162599400-162600800	Enhancers	Psoas Muscle	Psoas
30	chr6:162599400-162602600	Weak transcription	NH-A	brain
31	chr6:162599600-162607800	Weak transcription	Right Ventricle	heart
32	chr6:162599800-162601000	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr6:162600000-162600400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr6:162600000-162600800	Enhancers	Primary hematopoietic stem cells	blood
35	chr6:162600000-162601000	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr6:162600000-162601200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr6:162600000-162601400	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr6:162600200-162600800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr6:162600400-162600800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr6:162600600-162607600	Weak transcription	Left Ventricle	heart
41	chr6:162600800-162602000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr6:162600800-162602000	Weak transcription	Psoas Muscle	Psoas
43	chr6:162600800-162602200	Weak transcription	Primary hematopoietic stem cells	blood
44	chr6:162600800-162607600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr6:162601000-162601400	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr6:162601000-162601400	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr6:162601200-162601600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr6:162601200-162602800	Weak transcription	Fetal Heart	heart
49	chr6:162601400-162601800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr6:162601400-162602400	Enhancers	Monocytes-CD14+_RO01746	blood

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