Variant report

Variant	nsv824587
Chromosome Location	chr1:151424031-151426011
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:151423878..151427557-chr1:151430240..151433379,4	K562	blood:
2	1:151411623-151426875..1:151592347-151603110	GM12878	blood:
3	chr1:151418228..151420627-chr1:151423254..151425635,2	MCF-7	breast:
4	1:151171193-151178589..1:151411623-151426875	GM12878	blood:
5	chr1:151411841..151424302-chr1:151427210..151433048,24	MCF-7	breast:
6	chr1:151421812..151434588-chr1:151506621..151515599,30	MCF-7	breast:
7	chr1:151422588..151424800-chr1:151482692..151484945,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000232536	chromatin interactions
ENSG00000143398	chromatin interactions
ENSG00000143367	chromatin interactions
ENSG00000206635	chromatin interactions
ENSG00000143442	chromatin interactions
ENSG00000143375	chromatin interactions

Extended variants
information (count: 96 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537772485	chr1:151424088-151424089	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs72633638	chr1:151424129-151424130	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs577526350	chr1:151424133-151424134	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs10158673	chr1:151424155-151424156	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs150930941	chr1:151424168-151424169	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs185098883	chr1:151424171-151424172	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs541546440	chr1:151424186-151424187	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs561740754	chr1:151424195-151424196	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs141120630	chr1:151424259-151424260	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs116622940	chr1:151424290-151424291	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs563998279	chr1:151424301-151424302	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs189978798	chr1:151424333-151424334	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs28681298	chr1:151424370-151424371	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs568884800	chr1:151424378-151424379	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs559892310	chr1:151424385-151424386	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs147931098	chr1:151424420-151424421	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs182146589	chr1:151424436-151424437	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs568447387	chr1:151424439-151424440	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs544003825	chr1:151424462-151424463	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs537013362	chr1:151424467-151424468	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs141722374	chr1:151424478-151424479	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs571209887	chr1:151424491-151424492	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs537797559	chr1:151424497-151424498	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs553639601	chr1:151424498-151424499	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs184684937	chr1:151424561-151424562	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs574531921	chr1:151424574-151424575	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs535557681	chr1:151424586-151424587	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs199537999	chr1:151424589-151424590	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs563413667	chr1:151424604-151424605	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs372360285	chr1:151424691-151424692	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs147066625	chr1:151424710-151424711	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs557325979	chr1:151424739-151424740	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs113011112	chr1:151424745-151424746	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs188797225	chr1:151424751-151424752	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs61819473	chr1:151424764-151424765	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs559929322	chr1:151424784-151424785	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs369615209	chr1:151424787-151424788	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs541848168	chr1:151424819-151424820	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs542320725	chr1:151424823-151424824	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs180771300	chr1:151424827-151424828	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs185383705	chr1:151424867-151424868	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs190878282	chr1:151424910-151424911	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs72633639	chr1:151424919-151424920	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs76491278	chr1:151424928-151424929	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs12068368	chr1:151424971-151424972	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs12068371	chr1:151424981-151424982	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs567056156	chr1:151424986-151424987	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs182084833	chr1:151425026-151425027	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs555919297	chr1:151425032-151425033	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs557687442	chr1:151425067-151425068	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:116)

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
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
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
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
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151398400-151429600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:151401000-151430000	Weak transcription	Esophagus	oesophagus
3	chr1:151401600-151429200	Weak transcription	Spleen	Spleen
4	chr1:151405800-151428400	Weak transcription	Right Atrium	heart
5	chr1:151410200-151429800	Weak transcription	Lung	lung
6	chr1:151411400-151427200	Weak transcription	Right Ventricle	heart
7	chr1:151411400-151430000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:151412600-151429200	Weak transcription	Brain Germinal Matrix	brain
9	chr1:151413600-151429800	Weak transcription	Pancreas	Pancrea
10	chr1:151413600-151430000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:151413800-151428000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr1:151413800-151429400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr1:151413800-151429800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:151414000-151429600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:151414200-151425400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:151414200-151430400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:151414400-151429000	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr1:151414400-151429400	Weak transcription	Fetal Kidney	kidney
19	chr1:151414400-151429400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr1:151414600-151428200	Weak transcription	Fetal Brain Female	brain
21	chr1:151414600-151429000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr1:151414600-151429000	Weak transcription	Small Intestine	intestine
23	chr1:151414600-151429200	Weak transcription	Fetal Brain Male	brain
24	chr1:151414600-151430400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr1:151414800-151427600	Weak transcription	K562	blood
26	chr1:151414800-151429600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr1:151415000-151429400	Weak transcription	Placenta	Placenta
28	chr1:151415200-151425600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:151415200-151429000	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr1:151416400-151429400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr1:151416600-151427200	Weak transcription	Adipose Nuclei	Adipose
32	chr1:151416800-151426200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr1:151416800-151429600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr1:151417000-151426000	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr1:151417000-151426400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr1:151417000-151428800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr1:151417000-151429200	Weak transcription	HUVEC	blood vessel
38	chr1:151417200-151427600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:151417200-151428600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr1:151417200-151429000	Weak transcription	HSMMtube	muscle
41	chr1:151417400-151426600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr1:151417400-151429600	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr1:151417600-151424800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:151417600-151426200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr1:151417600-151427600	Weak transcription	Primary hematopoietic stem cells	blood
46	chr1:151417600-151428400	Weak transcription	Primary B cells from peripheral blood	blood
47	chr1:151417600-151428400	Weak transcription	NHDF-Ad	bronchial
48	chr1:151417600-151428600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr1:151417600-151428800	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr1:151417600-151428800	Weak transcription	Hela-S3	cervix

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