Variant report

Variant	nsv526031
Chromosome Location	chr6:162328273-162754606
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:42)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:42 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:162721411..162723925-chr6:162726328..162729326,2	K562	blood:
2	chr6:162397480..162399223-chr6:162401761..162404565,2	K562	blood:
3	chr6:162666890..162668464-chr6:162670216..162671922,2	K562	blood:
4	chr3:66689243..66689865-chr6:162514238..162514739,2	MCF-7	breast:
5	chr6:162574333..162576032-chr6:162578404..162580150,2	K562	blood:
6	chr6:162350457..162353351-chr6:162353923..162356207,2	K562	blood:
7	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
8	chr6:162525404..162526979-chr6:162529518..162531928,2	MCF-7	breast:
9	chr6:162552000..162556573-chr6:162556763..162561114,5	K562	blood:
10	chr6:162400767..162402435-chr6:162406575..162409112,2	K562	blood:
11	chr6:162347118..162349182-chr6:162351860..162355211,3	K562	blood:
12	chr6:162661286..162663139-chr6:162673530..162675376,2	K562	blood:
13	chr6:162470841..162473078-chr6:162475586..162477804,2	MCF-7	breast:
14	chr6:162671180..162673472-chr6:162808694..162811227,2	K562	blood:
15	chr6:162347118..162349182-chr6:162351860..162355211,3	K562	blood:
16	chr6:162470841..162473078-chr6:162475586..162477804,2	MCF-7	breast:
17	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:
18	chr6:162380873..162382939-chr6:162388150..162390123,2	K562	blood:
19	chr6:162661286..162663139-chr6:162673530..162675376,2	K562	blood:
20	chr6:162552000..162556573-chr6:162556763..162561114,5	K562	blood:
21	chr6:162397480..162399223-chr6:162401761..162404565,2	K562	blood:
22	chr6:162500411..162502828-chr6:162504694..162507642,2	K562	blood:
23	chr6:162666890..162668464-chr6:162670216..162671922,2	K562	blood:
24	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:
25	chr6:162380873..162382939-chr6:162388150..162390123,2	K562	blood:
26	chr6:162372183..162373880-chr6:162375416..162378006,2	K562	blood:
27	chr6:162553757..162556831-chr6:162558713..162560436,3	K562	blood:
28	chr6:162721411..162723925-chr6:162726328..162729326,2	K562	blood:
29	chr6:162258059..162258779-chr6:162552660..162553528,2	MCF-7	breast:
30	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
31	chr6:162436271..162438282-chr6:162512437..162514970,2	K562	blood:
32	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
33	chr6:162400767..162402435-chr6:162406575..162409112,2	K562	blood:
34	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
35	chr6:162350457..162353351-chr6:162353923..162356207,2	K562	blood:
36	chr6:162574333..162576032-chr6:162578404..162580150,2	K562	blood:
37	chr6:162258117..162258784-chr6:162338530..162339165,2	MCF-7	breast:
38	chr6:162372183..162373880-chr6:162375416..162378006,2	K562	blood:
39	chr6:162436271..162438282-chr6:162512437..162514970,2	K562	blood:
40	chr6:162553757..162556831-chr6:162558713..162560436,3	K562	blood:
41	chr6:162500411..162502828-chr6:162504694..162507642,2	K562	blood:
42	chr6:162525404..162526979-chr6:162529518..162531928,2	MCF-7	breast:

No data

Extended variants
information (count: 15974 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:15974 , 50 per page) page: 1 2 3 4 5 6 7 ... 320

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9347562	chr6:162328273-162328274	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs553355603	chr6:162328290-162328291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556244696	chr6:162328331-162328332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573223560	chr6:162328332-162328333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73785469	chr6:162328369-162328370	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs34892597	chr6:162328409-162328410	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs575903106	chr6:162328422-162328423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544856909	chr6:162328423-162328424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561522267	chr6:162328448-162328449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548975287	chr6:162328449-162328450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567192998	chr6:162328450-162328451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145681113	chr6:162328453-162328454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546250092	chr6:162328577-162328578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74474159	chr6:162328650-162328651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189130399	chr6:162328687-162328688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552227377	chr6:162328706-162328707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568652891	chr6:162328712-162328713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537608864	chr6:162328729-162328730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113719554	chr6:162328758-162328759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547985361	chr6:162328807-162328808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191983988	chr6:162328829-162328830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533852919	chr6:162328842-162328843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377572062	chr6:162328843-162328844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372120241	chr6:162328845-162328846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6941928	chr6:162328855-162328856	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs538707801	chr6:162328869-162328870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184919255	chr6:162328880-162328881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575815497	chr6:162328881-162328882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6922334	chr6:162328896-162328897	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs527717526	chr6:162328969-162328970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561485967	chr6:162328971-162328972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575149965	chr6:162328979-162328980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540904706	chr6:162329000-162329001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560649593	chr6:162329123-162329124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532130310	chr6:162329124-162329125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71799804	chr6:162329125-162329126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374356284	chr6:162329131-162329132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373584775	chr6:162329144-162329145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551895295	chr6:162329184-162329185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562197287	chr6:162329241-162329242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9365349	chr6:162329242-162329243	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs140264026	chr6:162329252-162329253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567900701	chr6:162329253-162329254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150381685	chr6:162329254-162329255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6899750	chr6:162329276-162329277	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs6899760	chr6:162329287-162329288	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs79288694	chr6:162329319-162329320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558682677	chr6:162329333-162329334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141965844	chr6:162329334-162329335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538356877	chr6:162329339-162329340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
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	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

Chromatin state (count:1173 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162324200-162329800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr6:162326000-162329800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr6:162329800-162330200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr6:162329800-162330400	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr6:162329800-162330600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr6:162329800-162330800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr6:162330000-162330400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr6:162330200-162330400	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr6:162330200-162333200	Weak transcription	Psoas Muscle	Psoas
10	chr6:162330400-162331800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr6:162330400-162338800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr6:162332200-162332400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr6:162336200-162343400	Weak transcription	Fetal Heart	heart
14	chr6:162336200-162357200	Weak transcription	Aorta	Aorta
15	chr6:162338600-162338800	Enhancers	NH-A	brain
16	chr6:162338600-162339000	Enhancers	A549	lung
17	chr6:162338600-162339200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr6:162338600-162339200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr6:162338600-162339800	Enhancers	Brain Germinal Matrix	brain
20	chr6:162338800-162339000	Active TSS	Hela-S3	cervix
21	chr6:162338800-162339400	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr6:162338800-162340000	Flanking Active TSS	NH-A	brain
23	chr6:162339000-162339400	Flanking Active TSS	A549	lung
24	chr6:162339000-162339400	Flanking Active TSS	Hela-S3	cervix
25	chr6:162339000-162340200	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr6:162339000-162340200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr6:162339000-162340200	Active TSS	Fetal Brain Female	brain
28	chr6:162339200-162339600	Enhancers	Muscle Satellite Cultured Cells	--
29	chr6:162339200-162340200	Active TSS	Brain Angular Gyrus	brain
30	chr6:162339200-162340200	Active TSS	Brain Anterior Caudate	brain
31	chr6:162339200-162340200	Active TSS	Brain Cingulate Gyrus	brain
32	chr6:162339200-162342600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr6:162339200-162342800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr6:162339400-162339600	Enhancers	Hela-S3	cervix
35	chr6:162339400-162339800	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr6:162339400-162339800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr6:162339400-162340000	Active TSS	A549	lung
38	chr6:162339400-162340200	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr6:162339600-162339800	Flanking Active TSS	Hela-S3	cervix
40	chr6:162339600-162340200	Active TSS	Brain Hippocampus Middle	brain
41	chr6:162339600-162343200	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr6:162339800-162340000	Weak transcription	Ovary	ovary
43	chr6:162339800-162340200	Enhancers	Hela-S3	cervix
44	chr6:162339800-162340600	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr6:162339800-162342600	Weak transcription	Brain Germinal Matrix	brain
46	chr6:162339800-162343400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr6:162340000-162340200	ZNF genes & repeats	Ovary	ovary
48	chr6:162340000-162340200	Flanking Active TSS	A549	lung
49	chr6:162340000-162340200	Enhancers	NH-A	brain
50	chr6:162340200-162342600	Weak transcription	Brain Angular Gyrus	brain

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