Variant report

Variant	nsv481704
Chromosome Location	chr6:162182244-162846034
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:71)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:71 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr6:162258117..162258784-chr6:162338530..162339165,2	MCF-7	breast:
2	chr6:162671180..162673472-chr6:162808694..162811227,2	K562	blood:
3	chr6:162291697..162293198-chr6:162305600..162307370,2	K562	blood:
4	chr6:162400767..162402435-chr6:162406575..162409112,2	K562	blood:
5	chr6:162525404..162526979-chr6:162529518..162531928,2	MCF-7	breast:
6	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
7	chr6:162350457..162353351-chr6:162353923..162356207,2	K562	blood:
8	chr6:162661286..162663139-chr6:162673530..162675376,2	K562	blood:
9	chr6:162574333..162576032-chr6:162578404..162580150,2	K562	blood:
10	chr6:162350457..162353351-chr6:162353923..162356207,2	K562	blood:
11	chr6:162799485..162803733-chr6:162804296..162807777,5	K562	blood:
12	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
13	chr6:162347118..162349182-chr6:162351860..162355211,3	K562	blood:
14	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
15	chr6:162307888..162309501-chr6:162310852..162312650,2	K562	blood:
16	chr6:162768506..162770213-chr6:162786241..162788330,2	K562	blood:
17	chr6:162436271..162438282-chr6:162512437..162514970,2	K562	blood:
18	chr6:162500411..162502828-chr6:162504694..162507642,2	K562	blood:
19	chr6:162436271..162438282-chr6:162512437..162514970,2	K562	blood:
20	chr6:162216587..162218691-chr6:162225101..162227602,2	K562	blood:
21	chr6:162721411..162723925-chr6:162726328..162729326,2	K562	blood:
22	chr6:162313026..162315357-chr6:162317264..162319780,2	K562	blood:
23	chr6:162211723..162213448-chr6:162215614..162217575,2	K562	blood:
24	chr6:162500411..162502828-chr6:162504694..162507642,2	K562	blood:
25	chr6:162232298..162233805-chr6:162237071..162239613,2	K562	blood:
26	chr6:162372183..162373880-chr6:162375416..162378006,2	K562	blood:
27	chr6:162553757..162556831-chr6:162558713..162560436,3	K562	blood:
28	chr6:162372183..162373880-chr6:162375416..162378006,2	K562	blood:
29	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
30	chr6:162291697..162293198-chr6:162305600..162307370,2	K562	blood:
31	chr6:162470841..162473078-chr6:162475586..162477804,2	MCF-7	breast:
32	chr6:162307888..162309501-chr6:162310852..162312650,2	K562	blood:
33	chr6:162258117..162258784-chr6:162338530..162339165,2	MCF-7	breast:
34	chr6:162212614..162214396-chr6:162214709..162217609,2	MCF-7	breast:
35	chr6:162666890..162668464-chr6:162670216..162671922,2	K562	blood:
36	chr6:162768506..162770213-chr6:162786241..162788330,2	K562	blood:
37	chr6:162212614..162214396-chr6:162214709..162217609,2	MCF-7	breast:
38	chr6:162763017..162765353-chr6:162767098..162769301,2	K562	blood:
39	chr6:162574333..162576032-chr6:162578404..162580150,2	K562	blood:
40	chr6:162397480..162399223-chr6:162401761..162404565,2	K562	blood:
41	chr6:162274815..162277621-chr6:162282085..162283805,2	K562	blood:
42	chr6:162380873..162382939-chr6:162388150..162390123,2	K562	blood:
43	chr6:162400767..162402435-chr6:162406575..162409112,2	K562	blood:
44	chr6:162820265..162823089-chr6:162827852..162829559,2	K562	blood:
45	chr6:162552000..162556573-chr6:162556763..162561114,5	K562	blood:
46	chr6:162397480..162399223-chr6:162401761..162404565,2	K562	blood:
47	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:
48	chr6:162347118..162349182-chr6:162351860..162355211,3	K562	blood:
49	chr6:162258059..162258779-chr6:162552660..162553528,2	MCF-7	breast:
50	chr6:162552000..162556573-chr6:162556763..162561114,5	K562	blood:

No data

Extended variants
information (count: 26069 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:26069 , 50 per page) page: 1 2 3 4 5 6 7 ... 522

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs55883230	chr6:162182297-162182298	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs181894672	chr6:162182346-162182347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12662512	chr6:162182358-162182359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372859832	chr6:162182364-162182365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs62436114	chr6:162182371-162182372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145159891	chr6:162182373-162182374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144422861	chr6:162182377-162182378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs66899149	chr6:162182378-162182379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370294044	chr6:162182391-162182392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs71786841	chr6:162182392-162182393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs61256463	chr6:162182457-162182458	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs148153277	chr6:162182481-162182482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141941670	chr6:162182496-162182497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554695950	chr6:162182538-162182539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12174009	chr6:162182577-162182578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112495279	chr6:162182606-162182607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs62436116	chr6:162182632-162182633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376414357	chr6:162182637-162182638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562218124	chr6:162182653-162182654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527793760	chr6:162182691-162182692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547834059	chr6:162182792-162182793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564343456	chr6:162182807-162182808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556551850	chr6:162182828-162182829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs578023899	chr6:162182844-162182845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540389086	chr6:162182945-162182946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533338221	chr6:162182953-162182954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552222408	chr6:162182993-162182994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565435385	chr6:162183011-162183012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571063615	chr6:162183023-162183024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568798883	chr6:162183033-162183034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537692648	chr6:162183079-162183080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547982981	chr6:162183083-162183084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34992486	chr6:162183143-162183144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567872065	chr6:162183154-162183155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533673713	chr6:162183197-162183198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4235931	chr6:162183198-162183199	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs369608010	chr6:162183287-162183288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553653865	chr6:162183294-162183295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539412006	chr6:162183378-162183379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544864890	chr6:162183389-162183390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140991434	chr6:162183410-162183411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116407584	chr6:162183425-162183426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140669031	chr6:162183432-162183433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs4634431	chr6:162183448-162183449	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs143014718	chr6:162183459-162183460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377740838	chr6:162183494-162183495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535424059	chr6:162183502-162183503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572571290	chr6:162183504-162183505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541193863	chr6:162183517-162183518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147445956	chr6:162183547-162183548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
Bipolar disorder	19114987	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
early-passage human iPS cells	21368824	CNVD
Parkinson disease	21829596	CNVD
Gastric cancer	22315472	CNVD
Autism	19404257	CNVD
Schizophrenia	21346763	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

Chromatin state (count:2150 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162169800-162184400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:162173800-162184400	Weak transcription	Ovary	ovary
3	chr6:162184400-162184600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:162185800-162186600	Enhancers	Brain Germinal Matrix	brain
5	chr6:162186600-162195000	Weak transcription	Brain Germinal Matrix	brain
6	chr6:162190800-162191400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr6:162191400-162192600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr6:162191600-162209200	Weak transcription	Aorta	Aorta
9	chr6:162192600-162193400	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr6:162192600-162194600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr6:162192800-162195000	Enhancers	Fetal Lung	lung
12	chr6:162193000-162193200	Enhancers	Fetal Kidney	kidney
13	chr6:162193400-162193600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr6:162193400-162193800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr6:162193600-162194600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:162193800-162195000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr6:162194200-162195000	Enhancers	Fetal Brain Female	brain
18	chr6:162194400-162194800	Enhancers	Brain Substantia Nigra	brain
19	chr6:162194600-162194800	Enhancers	Brain Hippocampus Middle	brain
20	chr6:162194600-162195000	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr6:162194600-162195600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr6:162194600-162195600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr6:162194800-162195000	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr6:162194800-162195000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr6:162194800-162195000	Active TSS	Colon Smooth Muscle	Colon
26	chr6:162194800-162195200	Enhancers	Primary hematopoietic stem cells	blood
27	chr6:162194800-162195200	Enhancers	Muscle Satellite Cultured Cells	--
28	chr6:162194800-162195400	Active TSS	Brain Angular Gyrus	brain
29	chr6:162194800-162195400	Active TSS	Stomach Smooth Muscle	stomach
30	chr6:162194800-162195600	Enhancers	Adipose Nuclei	Adipose
31	chr6:162194800-162195600	Flanking Active TSS	Brain Substantia Nigra	brain
32	chr6:162194800-162195600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr6:162194800-162195600	Enhancers	Rectal Smooth Muscle	rectum
34	chr6:162194800-162195800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:162194800-162195800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr6:162194800-162195800	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr6:162194800-162195800	Enhancers	Fetal Heart	heart
38	chr6:162194800-162195800	Enhancers	Fetal Kidney	kidney
39	chr6:162194800-162195800	Enhancers	Ovary	ovary
40	chr6:162194800-162196200	Enhancers	Fetal Brain Male	brain
41	chr6:162194800-162196200	Enhancers	Fetal Stomach	stomach
42	chr6:162195000-162195200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
43	chr6:162195000-162195200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr6:162195000-162195200	Flanking Active TSS	Colon Smooth Muscle	Colon
45	chr6:162195000-162195400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr6:162195000-162195400	Active TSS	Brain Anterior Caudate	brain
47	chr6:162195000-162195400	Active TSS	Brain Cingulate Gyrus	brain
48	chr6:162195000-162195400	Flanking Active TSS	Brain Germinal Matrix	brain
49	chr6:162195000-162195400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr6:162195000-162195400	Flanking Active TSS	Fetal Brain Female	brain

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