Variant report

Variant	nsv946452
Chromosome Location	chr1:159943428-159944282
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:159934579..159937237-chr1:159944112..159946274,2	K562	blood:
2	chr1:159940364..159943958-chr1:159945441..159948326,4	K562	blood:
3	chr1:159941373..159945403-chr1:159947099..159949838,3	MCF-7	breast:
4	chr1:159940364..159943958-chr1:159945602..159948326,3	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578096838	chr1:159943433-159943434	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs60153746	chr1:159943437-159943438	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs57616807	chr1:159943452-159943453	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs184839360	chr1:159943456-159943457	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs60537025	chr1:159943459-159943460	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs4656249	chr1:159943460-159943461	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs140606865	chr1:159943484-159943485	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114892333	chr1:159943505-159943506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189307950	chr1:159943506-159943507	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543791077	chr1:159943534-159943535	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs68095584	chr1:159943536-159943537	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114430366	chr1:159943552-159943553	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570384354	chr1:159943553-159943554	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537724448	chr1:159943565-159943566	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555972989	chr1:159943585-159943586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs180941597	chr1:159943600-159943601	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541603941	chr1:159943614-159943615	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149324669	chr1:159943628-159943629	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571964751	chr1:159943652-159943653	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545791248	chr1:159943674-159943675	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564051814	chr1:159943718-159943719	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532891248	chr1:159943726-159943727	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186020714	chr1:159943748-159943749	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562987063	chr1:159943795-159943796	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530267698	chr1:159943862-159943863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191244790	chr1:159943889-159943890	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543997786	chr1:159943897-159943898	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114872792	chr1:159943909-159943910	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552181726	chr1:159943960-159943961	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144524686	chr1:159943969-159943970	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs59673346	chr1:159943981-159943982	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs117971950	chr1:159943985-159943986	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114871410	chr1:159944004-159944005	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566054768	chr1:159944026-159944027	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528515000	chr1:159944048-159944049	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535606218	chr1:159944137-159944138	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553608790	chr1:159944155-159944156	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572137359	chr1:159944157-159944158	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113625250	chr1:159944161-159944162	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199902253	chr1:159944169-159944170	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11801260	chr1:159944200-159944201	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76107464	chr1:159944247-159944248	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	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
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Type 2 diabetes	19141583	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
Bladder cancer	21909424	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Breast cancer	21045282	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Follicular lymphoma	18703704	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Breast cancer	19602461	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159932000-159949800	Weak transcription	Esophagus	oesophagus
2	chr1:159933200-159947200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:159933400-159950600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:159937400-159947200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:159937600-159944000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:159939000-159945200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:159940200-159947400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr1:159941000-159944600	Strong transcription	NHEK	skin
9	chr1:159941600-159957800	Weak transcription	Right Atrium	heart
10	chr1:159942000-159951200	Weak transcription	Gastric	stomach
11	chr1:159942000-159951600	Weak transcription	Pancreas	Pancrea
12	chr1:159942200-159947200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr1:159942200-159950000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:159942200-159959400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:159943200-159947400	Weak transcription	Fetal Intestine Small	intestine
16	chr1:159943200-159951200	Weak transcription	Colonic Mucosa	Colon
17	chr1:159943400-159947000	Weak transcription	Stomach Mucosa	stomach
18	chr1:159944000-159945000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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