Variant report

Variant	nsv481957
Chromosome Location	chr6:163034484-163092578
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:163077595..163080176-chr6:163085064..163087575,2	K562	blood:
2	chr6:163080104..163081787-chr6:163082227..163083951,2	K562	blood:
3	chr6:163080104..163081787-chr6:163082227..163083951,2	K562	blood:
4	chr6:163077595..163080176-chr6:163085064..163087575,2	K562	blood:

Extended variants
information (count: 1902 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:1902 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184060902	chr6:163034491-163034492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553526432	chr6:163034511-163034512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371274863	chr6:163034543-163034544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187928158	chr6:163034548-163034549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539034213	chr6:163034555-163034556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545603339	chr6:163034608-163034609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190845522	chr6:163034648-163034649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182348102	chr6:163034663-163034664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574400954	chr6:163034676-163034677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374079926	chr6:163034677-163034678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575892504	chr6:163034703-163034704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531136777	chr6:163034780-163034781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9458617	chr6:163034794-163034795	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs186734817	chr6:163034809-163034810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574711468	chr6:163034855-163034856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2803052	chr6:163034877-163034878	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs201206381	chr6:163034896-163034897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs386708081	chr6:163034897-163034898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539849942	chr6:163034899-163034900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs202228772	chr6:163034900-163034901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553340010	chr6:163034902-163034903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200797180	chr6:163034903-163034904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201769384	chr6:163034906-163034907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562371191	chr6:163034936-163034937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531617397	chr6:163034948-163034949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548518634	chr6:163034969-163034970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2803051	chr6:163034979-163034980	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs527485522	chr6:163034984-163034985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530789101	chr6:163034994-163034995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565419723	chr6:163035018-163035019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547076978	chr6:163035037-163035038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566948620	chr6:163035086-163035087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538805498	chr6:163035152-163035153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139207716	chr6:163035162-163035163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576771719	chr6:163035168-163035169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115972297	chr6:163035181-163035182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538117736	chr6:163035193-163035194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370350021	chr6:163035223-163035224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545924335	chr6:163035226-163035227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554842403	chr6:163035238-163035239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs2155507	chr6:163035251-163035252	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs200929876	chr6:163035270-163035271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs374675783	chr6:163035303-163035304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs2155506	chr6:163035342-163035343	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs567393345	chr6:163035344-163035345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs576848096	chr6:163035356-163035357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs2155505	chr6:163035377-163035378	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs34878731	chr6:163035389-163035390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs2155503	chr6:163035390-163035391	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs542099341	chr6:163035394-163035395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Parkinson disease	0	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian cancer	22355333	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:194 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163018000-163036400	Weak transcription	Pancreas	Pancrea
2	chr6:163025400-163043400	Weak transcription	Psoas Muscle	Psoas
3	chr6:163027200-163036400	Weak transcription	Ovary	ovary
4	chr6:163027400-163036000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:163035200-163036600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:163035800-163037000	Enhancers	Adipose Nuclei	Adipose
7	chr6:163036000-163036800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr6:163036000-163037000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:163036000-163037000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:163036000-163037000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:163036200-163037000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:163036400-163036600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:163036400-163036600	Enhancers	Pancreas	Pancrea
14	chr6:163036400-163036800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:163036400-163036800	Enhancers	Ovary	ovary
16	chr6:163036400-163036800	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr6:163036400-163037000	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr6:163036600-163036800	Enhancers	Duodenum Mucosa	Duodenum
19	chr6:163036600-163037000	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr6:163036600-163037200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:163036800-163037600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr6:163036800-163042400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr6:163037000-163042200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:163037200-163039200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr6:163037600-163038600	Enhancers	Duodenum Mucosa	Duodenum
26	chr6:163039200-163039800	Enhancers	Fetal Lung	lung
27	chr6:163039800-163040000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr6:163040000-163047000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr6:163042000-163042400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr6:163042000-163042600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:163042000-163042600	Enhancers	Fetal Heart	heart
32	chr6:163042200-163042600	Enhancers	H1 Cell Line	embryonic stem cell
33	chr6:163042200-163042600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:163042200-163042600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:163042200-163042600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr6:163042200-163042600	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr6:163042200-163042600	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr6:163042200-163042600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr6:163042200-163042600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr6:163042200-163042600	Enhancers	Left Ventricle	heart
41	chr6:163042200-163042800	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr6:163042200-163042800	Enhancers	Placenta Amnion	Placenta Amnion
43	chr6:163042400-163042600	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr6:163042400-163042800	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr6:163042400-163043000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr6:163042400-163047000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr6:163042600-163043400	Weak transcription	Left Ventricle	heart
48	chr6:163042600-163043400	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr6:163042600-163043800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:163042600-163043800	Weak transcription	Fetal Heart	heart

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