Variant report

Variant	nsv876295
Chromosome Location	chr3:440028-516255
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:457571..459756-chr3:462210..465015,2	K562	blood:
2	chr3:496434..499262-chr3:500586..502601,2	K562	blood:
3	chr3:453296..456199-chr3:456966..458950,2	K562	blood:
4	chr3:512741..514299-chr3:528430..530623,2	K562	blood:
5	chr3:453296..456199-chr3:456966..458950,2	K562	blood:
6	chr3:496434..499262-chr3:500586..502601,2	K562	blood:
7	chr3:457571..459756-chr3:462210..465015,2	K562	blood:
8	chr3:455533..456082-chr3:893341..894026,2	MCF-7	breast:

No data

(count:3 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	CHL1	hsa-miR-10a-5p	chr3:450171-450192
2	CHL1	hsa-miR-10a-5p	chr3:450185-450191
3	CHL1	hsa-miR-181a-5p	chr3:448562-448584

Extended variants
information (count: 2391 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:2391 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6771714	chr3:440028-440029	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs374455130	chr3:440030-440031	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570327415	chr3:440061-440062	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577549567	chr3:440066-440067	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6771803	chr3:440088-440089	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs532921147	chr3:440125-440126	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560097931	chr3:440239-440240	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531028542	chr3:440256-440257	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527345488	chr3:440261-440262	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552425287	chr3:440296-440297	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542531008	chr3:440322-440323	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542354953	chr3:440323-440324	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561941724	chr3:440344-440345	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570815728	chr3:440354-440355	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529475803	chr3:440362-440363	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550849317	chr3:440363-440364	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9860339	chr3:440366-440367	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62227276	chr3:440373-440374	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533704076	chr3:440394-440395	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551437553	chr3:440415-440416	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527690700	chr3:440440-440441	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111325359	chr3:440454-440455	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9833406	chr3:440464-440465	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs570851128	chr3:440477-440478	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73105068	chr3:440520-440521	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs549987334	chr3:440544-440545	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549543472	chr3:440563-440564	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114391479	chr3:440572-440573	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538071829	chr3:440575-440576	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116094983	chr3:440604-440605	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372147619	chr3:440656-440657	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370296918	chr3:440659-440660	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188991347	chr3:440663-440664	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78790737	chr3:440689-440690	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144135642	chr3:440715-440716	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538468649	chr3:440735-440736	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113284420	chr3:440736-440737	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571755854	chr3:440760-440761	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377087372	chr3:440761-440762	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542293532	chr3:440765-440766	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138211643	chr3:440776-440777	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs61753564	chr3:440782-440783	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372848017	chr3:440819-440820	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143032453	chr3:440821-440822	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200081497	chr3:440828-440829	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9861162	chr3:440851-440852	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575751160	chr3:440903-440904	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544453396	chr3:440910-440911	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2387184	chr3:440946-440947	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs533830945	chr3:440958-440959	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Cancer	20164920	CNVD
Lung cancer	16618734	CNVD
Autism	18349135	CNVD
Breast cancer	20409316	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Intellectual disability	22045946	CNVD
Squamous cell cancer	19607727	CNVD
Gastric adenocarcinoma	19115996	CNVD
sporadic birth defects	19047251	CNVD
Mental retardation	17124404	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Sudden cardiac death	19188705	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Neuroblastoma	18923191	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	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
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
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20967226	CNVD
Autism	22543975	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Tetralogy of Fallot	22912587	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	20685689	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:212 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:397600-453400	Weak transcription	Brain Angular Gyrus	brain
2	chr3:416200-447400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr3:421000-453600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr3:424200-453600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr3:426000-446400	Weak transcription	Adipose Nuclei	Adipose
6	chr3:427600-442200	Weak transcription	Brain Substantia Nigra	brain
7	chr3:429000-453000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr3:430600-451600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr3:431600-443600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr3:431800-451400	Weak transcription	Fetal Brain Female	brain
11	chr3:434000-443800	Weak transcription	Ovary	ovary
12	chr3:434400-449400	Weak transcription	Brain Germinal Matrix	brain
13	chr3:434600-443400	Weak transcription	Brain Anterior Caudate	brain
14	chr3:438200-443400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr3:439200-447800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:443400-444000	Strong transcription	Brain Anterior Caudate	brain
17	chr3:443400-447200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr3:443600-445600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr3:443800-444800	Strong transcription	Ovary	ovary
20	chr3:444000-444400	Weak transcription	Brain Anterior Caudate	brain
21	chr3:444400-445000	Strong transcription	Brain Anterior Caudate	brain
22	chr3:444800-445000	ZNF genes & repeats	Ovary	ovary
23	chr3:445000-446600	Weak transcription	Ovary	ovary
24	chr3:445000-449600	Weak transcription	Brain Anterior Caudate	brain
25	chr3:445600-446800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr3:446800-448200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr3:447200-451400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr3:447800-449800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:448200-450000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr3:452200-452800	Active TSS	Aorta	Aorta
31	chr3:452800-453400	Enhancers	Aorta	Aorta
32	chr3:453000-453200	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr3:453000-453400	Enhancers	Fetal Brain Male	brain
34	chr3:453400-453600	Enhancers	Brain Angular Gyrus	brain
35	chr3:453600-453800	Bivalent Enhancer	Brain Cingulate Gyrus	brain
36	chr3:453600-453800	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr3:459800-460000	Enhancers	Fetal Intestine Small	intestine
38	chr3:459800-460400	Enhancers	Fetal Intestine Large	intestine
39	chr3:460200-461200	Weak transcription	Fetal Intestine Small	intestine
40	chr3:460400-461200	Weak transcription	Fetal Intestine Large	intestine
41	chr3:461200-461400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
42	chr3:461200-461400	Enhancers	Fetal Intestine Large	intestine
43	chr3:461200-461800	Enhancers	Fetal Intestine Small	intestine
44	chr3:465800-469400	Enhancers	Hela-S3	cervix
45	chr3:466200-467600	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr3:466800-467200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr3:467000-467200	Enhancers	Brain Germinal Matrix	brain
48	chr3:467200-469000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr3:467400-468000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr3:467400-468800	Weak transcription	Brain Germinal Matrix	brain

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