Variant report

Variant	nsv482025
Chromosome Location	chr6:162178696-162356440
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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:162258117..162258784-chr6:162338530..162339165,2	MCF-7	breast:
2	chr6:162207547..162209957-chr6:162210445..162213994,3	K562	blood:
3	chr6:162313026..162315357-chr6:162317264..162319780,2	K562	blood:
4	chr6:162350457..162353351-chr6:162353923..162356207,2	K562	blood:
5	chr6:162232298..162233805-chr6:162237071..162239613,2	K562	blood:
6	chr6:162291697..162293198-chr6:162305600..162307370,2	K562	blood:
7	chr6:162307888..162309501-chr6:162310852..162312650,2	K562	blood:
8	chr6:162232298..162233805-chr6:162237071..162239613,2	K562	blood:
9	chr6:162347118..162349182-chr6:162351860..162355211,3	K562	blood:
10	chr6:162258117..162258784-chr6:162338530..162339165,2	MCF-7	breast:
11	chr6:162212614..162214396-chr6:162214709..162217609,2	MCF-7	breast:
12	chr6:162291697..162293198-chr6:162305600..162307370,2	K562	blood:
13	chr6:162347118..162349182-chr6:162351860..162355211,3	K562	blood:
14	chr6:162350457..162353351-chr6:162353923..162356207,2	K562	blood:
15	chr6:162212614..162214396-chr6:162214709..162217609,2	MCF-7	breast:
16	chr6:162258059..162258779-chr6:162552660..162553528,2	MCF-7	breast:
17	chr6:162216587..162218691-chr6:162225101..162227602,2	K562	blood:
18	chr6:162274815..162277621-chr6:162282085..162283805,2	K562	blood:
19	chr6:162274815..162277621-chr6:162282085..162283805,2	K562	blood:
20	chr6:162313026..162315357-chr6:162317264..162319780,2	K562	blood:
21	chr6:162307888..162309501-chr6:162310852..162312650,2	K562	blood:
22	chr6:162207547..162209957-chr6:162210445..162213994,3	K562	blood:
23	chr6:162216587..162218691-chr6:162225101..162227602,2	K562	blood:
24	chr6:162211723..162213448-chr6:162215614..162217575,2	K562	blood:
25	chr6:162211723..162213448-chr6:162215614..162217575,2	K562	blood:

No data

Extended variants
information (count: 7743 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:7743 , 50 per page) page: 1 2 3 4 5 6 7 ... 155

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578096370	chr6:162178724-162178725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189863165	chr6:162178736-162178737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563777760	chr6:162178737-162178738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374985403	chr6:162178739-162178740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530945759	chr6:162178762-162178763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs9717985	chr6:162178784-162178785	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs559277795	chr6:162178795-162178796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76559780	chr6:162178805-162178806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9717986	chr6:162178824-162178825	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs369796041	chr6:162178831-162178832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373177222	chr6:162178844-162178845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112576361	chr6:162178851-162178852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12177692	chr6:162178874-162178875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142339937	chr6:162178901-162178902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201023204	chr6:162178902-162178903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12182252	chr6:162178903-162178904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369226880	chr6:162178907-162178908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200254230	chr6:162178909-162178910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569757890	chr6:162178914-162178915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535489121	chr6:162178916-162178917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373332894	chr6:162178919-162178920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs13203811	chr6:162178920-162178921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs202148558	chr6:162178922-162178923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372932862	chr6:162178928-162178929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535353051	chr6:162178936-162178937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11962961	chr6:162178975-162178976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558399341	chr6:162178985-162178986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140547354	chr6:162178994-162178995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377589445	chr6:162178995-162178996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34215655	chr6:162179009-162179010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs578128383	chr6:162179124-162179125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543989959	chr6:162179144-162179145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557223045	chr6:162179177-162179178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4329087	chr6:162179204-162179205	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs542672501	chr6:162179232-162179233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs9355930	chr6:162179235-162179236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189269212	chr6:162179249-162179250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73783393	chr6:162179343-162179344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564389958	chr6:162179358-162179359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs6941334	chr6:162179359-162179360	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs549944738	chr6:162179422-162179423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377521099	chr6:162179435-162179436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181004620	chr6:162179454-162179455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6903093	chr6:162179495-162179496	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs185067287	chr6:162179501-162179502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79600387	chr6:162179510-162179511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190119806	chr6:162179522-162179523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115914933	chr6:162179523-162179524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181150564	chr6:162179560-162179561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558198147	chr6:162179595-162179596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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

Chromatin state (count:725 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

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	chr6:162181400-162182000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr6:162184400-162184600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:162185800-162186600	Enhancers	Brain Germinal Matrix	brain
6	chr6:162186600-162195000	Weak transcription	Brain Germinal Matrix	brain
7	chr6:162190800-162191400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr6:162191400-162192600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr6:162191600-162209200	Weak transcription	Aorta	Aorta
10	chr6:162192600-162193400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr6:162192600-162194600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr6:162192800-162195000	Enhancers	Fetal Lung	lung
13	chr6:162193000-162193200	Enhancers	Fetal Kidney	kidney
14	chr6:162193400-162193600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:162193400-162193800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr6:162193600-162194600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr6:162193800-162195000	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr6:162194200-162195000	Enhancers	Fetal Brain Female	brain
19	chr6:162194400-162194800	Enhancers	Brain Substantia Nigra	brain
20	chr6:162194600-162194800	Enhancers	Brain Hippocampus Middle	brain
21	chr6:162194600-162195000	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr6:162194600-162195600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:162194600-162195600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr6:162194800-162195000	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr6:162194800-162195000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr6:162194800-162195000	Active TSS	Colon Smooth Muscle	Colon
27	chr6:162194800-162195200	Enhancers	Primary hematopoietic stem cells	blood
28	chr6:162194800-162195200	Enhancers	Muscle Satellite Cultured Cells	--
29	chr6:162194800-162195400	Active TSS	Brain Angular Gyrus	brain
30	chr6:162194800-162195400	Active TSS	Stomach Smooth Muscle	stomach
31	chr6:162194800-162195600	Enhancers	Adipose Nuclei	Adipose
32	chr6:162194800-162195600	Flanking Active TSS	Brain Substantia Nigra	brain
33	chr6:162194800-162195600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr6:162194800-162195600	Enhancers	Rectal Smooth Muscle	rectum
35	chr6:162194800-162195800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr6:162194800-162195800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr6:162194800-162195800	Flanking Active TSS	Brain Hippocampus Middle	brain
38	chr6:162194800-162195800	Enhancers	Fetal Heart	heart
39	chr6:162194800-162195800	Enhancers	Fetal Kidney	kidney
40	chr6:162194800-162195800	Enhancers	Ovary	ovary
41	chr6:162194800-162196200	Enhancers	Fetal Brain Male	brain
42	chr6:162194800-162196200	Enhancers	Fetal Stomach	stomach
43	chr6:162195000-162195200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
44	chr6:162195000-162195200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr6:162195000-162195200	Flanking Active TSS	Colon Smooth Muscle	Colon
46	chr6:162195000-162195400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr6:162195000-162195400	Active TSS	Brain Anterior Caudate	brain
48	chr6:162195000-162195400	Active TSS	Brain Cingulate Gyrus	brain
49	chr6:162195000-162195400	Flanking Active TSS	Brain Germinal Matrix	brain
50	chr6:162195000-162195400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum

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