Variant report

Variant	nsv1006141
Chromosome Location	chr3:85577197-85619079
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:85489023..85491028-chr3:85614972..85617090,2	K562	blood:
2	chr3:85616525..85619382-chr3:85621735..85623491,2	K562	blood:
3	chr3:85582405..85584379-chr3:85589105..85591498,2	K562	blood:
4	chr3:85582405..85584379-chr3:85589105..85591498,2	K562	blood:
5	chr3:85571729..85574723-chr3:85578667..85580600,2	K562	blood:

Extended variants
information (count: 993 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:993 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562928763	chr3:85583041-85583042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs554512607	chr3:85583045-85583046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs370980750	chr3:85583056-85583057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540163891	chr3:85583065-85583066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564850764	chr3:85583075-85583076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531821961	chr3:85583077-85583078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375349967	chr3:85583087-85583088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185769884	chr3:85583114-85583115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190145434	chr3:85583157-85583158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs34305569	chr3:85583192-85583193	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs10511076	chr3:85583193-85583194	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs139607907	chr3:85583204-85583205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375773537	chr3:85583386-85583387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10511075	chr3:85583403-85583404	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs547261435	chr3:85583451-85583452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs58919842	chr3:85583471-85583472	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs552600833	chr3:85583503-85583504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs59491876	chr3:85583506-85583507	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs59770976	chr3:85583542-85583543	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs556619981	chr3:85583589-85583590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568562386	chr3:85583594-85583595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs12629607	chr3:85583608-85583609	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs182604727	chr3:85583636-85583637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554707636	chr3:85583644-85583645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572954598	chr3:85583694-85583695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs56779213	chr3:85583745-85583746	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs558593069	chr3:85583756-85583757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555208996	chr3:85583766-85583767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576761582	chr3:85583785-85583786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543783777	chr3:85583839-85583840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73130356	chr3:85583840-85583841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574187099	chr3:85583855-85583856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs386663089	chr3:85583881-85583882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs17516470	chr3:85583882-85583883	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs111625033	chr3:85583888-85583889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs57756567	chr3:85583927-85583928	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs17516504	chr3:85583945-85583946	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs532088322	chr3:85584025-85584026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs550187502	chr3:85584048-85584049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568472146	chr3:85584063-85584064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs374280184	chr3:85584083-85584084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535903015	chr3:85584106-85584107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547595818	chr3:85584123-85584124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs546558552	chr3:85584124-85584125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566624076	chr3:85584183-85584184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs147129800	chr3:85584201-85584202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs6767245	chr3:85584213-85584214	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs576724133	chr3:85584215-85584216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537790036	chr3:85584222-85584223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555701162	chr3:85584227-85584228	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Prostate cancer	21307934	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85583000-85585400	Enhancers	Fetal Brain Male	brain
2	chr3:85583800-85585200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr3:85584200-85584800	Enhancers	Brain Anterior Caudate	brain
4	chr3:85584400-85585000	Enhancers	Brain Cingulate Gyrus	brain
5	chr3:85584400-85585200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr3:85584400-85585400	Enhancers	Brain Substantia Nigra	brain
7	chr3:85584600-85585000	Enhancers	Adipose Nuclei	Adipose
8	chr3:85584600-85585200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr3:85584600-85585200	Enhancers	Brain Angular Gyrus	brain
10	chr3:85584600-85585200	Enhancers	Brain Hippocampus Middle	brain
11	chr3:85584600-85585200	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr3:85584800-85585000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr3:85584800-85585000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr3:85584800-85585200	Enhancers	Brain Germinal Matrix	brain
15	chr3:85584800-85587400	Weak transcription	Brain Anterior Caudate	brain
16	chr3:85585000-85588000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr3:85585200-85587200	Weak transcription	Brain Angular Gyrus	brain
18	chr3:85585200-85587400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr3:85585200-85587600	Weak transcription	Brain Hippocampus Middle	brain
20	chr3:85585400-85591000	Weak transcription	Brain Substantia Nigra	brain
21	chr3:85587200-85588000	Enhancers	Brain Angular Gyrus	brain
22	chr3:85587400-85587800	Enhancers	Brain Anterior Caudate	brain
23	chr3:85587400-85588000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr3:85587400-85588000	Enhancers	Psoas Muscle	Psoas
25	chr3:85587400-85589800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr3:85587600-85588200	Enhancers	Brain Hippocampus Middle	brain
27	chr3:85588000-85588600	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr3:85591000-85597600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr3:85609000-85609400	Enhancers	Muscle Satellite Cultured Cells	--
30	chr3:85609000-85610200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr3:85609000-85610400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr3:85609000-85610400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr3:85609200-85609800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr3:85609200-85609800	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr3:85609200-85610200	Enhancers	Liver	Liver
36	chr3:85609200-85610400	Enhancers	Brain Angular Gyrus	brain
37	chr3:85609200-85610600	Enhancers	HepG2	liver
38	chr3:85609200-85611000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr3:85609400-85609600	Enhancers	Brain Cingulate Gyrus	brain
40	chr3:85609400-85609800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr3:85609400-85609800	Enhancers	Brain Hippocampus Middle	brain
42	chr3:85609400-85609800	Enhancers	Pancreas	Pancrea
43	chr3:85609400-85610000	Enhancers	Adipose Nuclei	Adipose
44	chr3:85609400-85610000	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr3:85609600-85609800	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr3:85609800-85610400	Enhancers	Muscle Satellite Cultured Cells	--
47	chr3:85609800-85610600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr3:85610200-85610400	Enhancers	Brain Cingulate Gyrus	brain
49	chr3:85610400-85613000	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr3:85610600-85610800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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