Variant report

Variant	nsv1005200
Chromosome Location	chr1:146836169-146873837
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:19)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:146849091..146851989-chr1:146881100..146883319,2	K562	blood:
2	chr1:146857005..146859244-chr1:146860862..146863182,2	K562	blood:
3	chr1:146553543..146556468-chr1:146848913..146851805,2	K562	blood:
4	chr1:146861647..146862210-chr1:146963967..146964711,2	MCF-7	breast:
5	chr1:146841177..146844214-chr1:146848195..146851017,3	K562	blood:
6	chr1:146714335..146717266-chr1:146861810..146864638,2	K562	blood:
7	chr1:146714725..146717432-chr1:146860214..146861781,2	MCF-7	breast:
8	chr1:146744019..146745756-chr1:146860547..146863397,2	MCF-7	breast:
9	chr1:146851757..146854184-chr1:146855912..146857816,2	K562	blood:
10	chr1:146857005..146859244-chr1:146860862..146863182,2	K562	blood:
11	chr1:146853507..146856418-chr1:146857817..146859989,2	MCF-7	breast:
12	chr1:146745103..146745868-chr1:146861342..146862193,4	MCF-7	breast:
13	chr1:146841177..146844214-chr1:146848195..146851017,3	K562	blood:
14	chr1:146643870..146644650-chr1:146861592..146862107,2	MCF-7	breast:
15	chr1:146829897..146832000-chr1:146834771..146837746,2	K562	blood:
16	chr1:146853507..146856418-chr1:146857817..146859989,2	MCF-7	breast:
17	chr1:146745473..146746108-chr1:146861600..146862389,4	K562	blood:
18	chr1:146745161..146746194-chr1:146861354..146862246,9	MCF-7	breast:
19	chr1:146851757..146854184-chr1:146855912..146857816,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACP6-1	chr1:146856390-146856585	NONHSAT006008
2	lnc-ACP6-1	chr1:146853914-146856585	NONHSAT006032

No data

Variant related genes	Relation type
ENSG00000131778	chromatin interactions
ENSG00000131781	chromatin interactions
ENSG00000131791	chromatin interactions
ENSG00000230832	chromatin interactions
ENSG00000237188	chromatin interactions

Extended variants
information (count: 701 )
Associated
traits (count: 159 )

Variant overlapped rSNPs/rCNVs (count:701 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11809333	chr1:146848404-146848405	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs587727197	chr1:146848442-146848443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs587628470	chr1:146848448-146848449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs587685519	chr1:146848465-146848466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs587767608	chr1:146848477-146848478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs180773641	chr1:146848507-146848508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs587699956	chr1:146848535-146848536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149474797	chr1:146848544-146848545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs587654730	chr1:146848547-146848548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs587705689	chr1:146848552-146848553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs587768698	chr1:146848581-146848582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144355191	chr1:146848584-146848585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs587747845	chr1:146848668-146848669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs587621271	chr1:146848741-146848742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs75896060	chr1:146848762-146848763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1806618	chr1:146848796-146848797	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs141539558	chr1:146848833-146848834	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs587593901	chr1:146848839-146848840	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs186661561	chr1:146848947-146848948	Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs189444469	chr1:146848976-146848977	Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs116792963	chr1:146848987-146848988	Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs181634507	chr1:146849015-146849016	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs4448568	chr1:146849017-146849018	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs79788286	chr1:146849103-146849104	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs2883318	chr1:146849143-146849144	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs148344925	chr1:146849148-146849149	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs34774938	chr1:146849177-146849178	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs587755294	chr1:146849226-146849227	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs114278571	chr1:146849293-146849294	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs142295940	chr1:146849331-146849332	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs146391184	chr1:146849341-146849342	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs139737582	chr1:146849351-146849352	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs144204328	chr1:146849442-146849443	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs75157403	chr1:146849505-146849506	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs587658044	chr1:146849521-146849522	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs587711986	chr1:146849556-146849557	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs115526122	chr1:146849604-146849605	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs587666055	chr1:146849610-146849611	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs1806617	chr1:146849613-146849614	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs377598338	chr1:146849623-146849624	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs587665269	chr1:146849673-146849674	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs150608485	chr1:146849727-146849728	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs587620516	chr1:146849742-146849743	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs139794522	chr1:146849774-146849775	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs370688775	chr1:146849851-146849852	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs587730251	chr1:146849871-146849872	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs201993470	chr1:146849880-146849881	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs34009640	chr1:146849912-146849913	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs587633993	chr1:146849978-146849979	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs79081931	chr1:146849986-146849987	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:159)

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
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	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
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	18350619	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
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
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Neuroblastoma	21124317	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	20970697	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Addison''s disease	21851588	CNVD
Heart disease	22199024	CNVD
Mental retardation	19951919	CNVD
Ovarian cancer	20844748	CNVD
Schizophrenia	21399695	CNVD
Prostate cancer	17217626	CNVD
Congenital heart defect	22199024	CNVD
TAR Syndrome	17847015	CNVD
Thrombocytopenia-absent radius syndrome	17236129	CNVD
Autism	18784092	CNVD
Congenital abnormalities	18784092	CNVD
Mental retardation	18784092	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	19521722	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	19521646	CNVD
Neuroblastoma	19536264	CNVD
Epilepsy	20923578	CNVD
Mental retardation	17124404	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18668039	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19571808	CNVD
Velocardiofacial syndrome	19329560	CNVD
Autism	19955444	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Colorectal cancer	20459617	CNVD
Osteosarcoma	19286668	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	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
Follicular lymphoma	18703704	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21509527	CNVD
Tetralogy of Fallot	22912587	CNVD
Bladder cancer	21909424	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Lung squamous cell carcinoma	20842114	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19812545	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:146848400-146848800	Enhancers	K562	blood
2	chr1:146848800-146850800	Flanking Active TSS	K562	blood
3	chr1:146849000-146850200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:146849200-146849600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:146849600-146850000	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr1:146850800-146852200	Enhancers	K562	blood
7	chr1:146860000-146860800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:146860400-146860800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:146860400-146861800	Enhancers	K562	blood
10	chr1:146860600-146861000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:146860600-146861200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:146860600-146861400	Enhancers	Placenta Amnion	Placenta Amnion
13	chr1:146860800-146862000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:146861000-146861200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:146861200-146861400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:146861400-146861600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:146861400-146861800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr1:146861400-146861800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:146861600-146861800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:146861600-146862200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr1:146861600-146862200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr1:146861600-146862200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:146861800-146874400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:146862000-146862400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr1:146873800-146874000	Enhancers	HepG2	liver
26	chr1:146873800-146874200	Enhancers	Liver	Liver

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