Variant report

Variant	nsv947511
Chromosome Location	chr1:170447658-170454066
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 132 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557555108	chr1:170450044-170450045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs573075190	chr1:170450059-170450060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540183554	chr1:170450068-170450069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189352627	chr1:170450154-170450155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574781226	chr1:170450170-170450171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542252442	chr1:170450187-170450188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536721455	chr1:170450206-170450207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563725269	chr1:170450241-170450242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537271255	chr1:170450245-170450246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531046723	chr1:170450270-170450271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552770811	chr1:170450348-170450349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564560740	chr1:170450434-170450435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs377492781	chr1:170450479-170450480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528760955	chr1:170450485-170450486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550666449	chr1:170450513-170450514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547025118	chr1:170450593-170450594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567136419	chr1:170450604-170450605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568041930	chr1:170450605-170450606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146073966	chr1:170450621-170450622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77871575	chr1:170450652-170450653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75724646	chr1:170450654-170450655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536275569	chr1:170450687-170450688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138750714	chr1:170450756-170450757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568585612	chr1:170450802-170450803	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs181242802	chr1:170450866-170450867	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs370664722	chr1:170450867-170450868	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs557506477	chr1:170450918-170450919	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs549683806	chr1:170450922-170450923	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs368680407	chr1:170450923-170450924	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs572997994	chr1:170451066-170451067	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs534081494	chr1:170451072-170451073	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs77435048	chr1:170451075-170451076	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs573881298	chr1:170451094-170451095	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs542215900	chr1:170451109-170451110	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs146278946	chr1:170451146-170451147	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs573216505	chr1:170451188-170451189	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs185600624	chr1:170451243-170451244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139128184	chr1:170451258-170451259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1412895	chr1:170451294-170451295	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs528720811	chr1:170451341-170451342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540833396	chr1:170451360-170451361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190009874	chr1:170451368-170451369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7538125	chr1:170451474-170451475	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs181687592	chr1:170451482-170451483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370314793	chr1:170451487-170451488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568539099	chr1:170451544-170451545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532858878	chr1:170451550-170451551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs367650038	chr1:170451554-170451555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186930347	chr1:170451586-170451587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114777607	chr1:170451595-170451596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:170450000-170450600	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr1:170450000-170451200	Enhancers	Dnd41	blood
3	chr1:170450200-170451200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:170450200-170451200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr1:170450400-170450800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:170450400-170451000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:170450400-170451000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:170450400-170451200	Enhancers	Esophagus	oesophagus
9	chr1:170450600-170450800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:170450600-170455600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:170450800-170451200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:170451000-170452400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:170451000-170452400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:170451200-170456600	Weak transcription	Dnd41	blood
15	chr1:170451200-170457200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:170451600-170452000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:170451800-170452000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:170452000-170452200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:170452000-170452800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:170452000-170453200	Enhancers	NHDF-Ad	bronchial
21	chr1:170452200-170452400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:170452400-170452600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:170452400-170452600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:170452400-170453000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:170452400-170453000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:170452400-170453000	Enhancers	Fetal Stomach	stomach
27	chr1:170452600-170452800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:170452600-170453000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:170452800-170454000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:170453200-170454200	Weak transcription	NHDF-Ad	bronchial
31	chr1:170454000-170454400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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