Variant report

Variant	nsv482125
Chromosome Location	chr1:152126071-152131704
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:183)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr1:152128831-152129266	GM12878	blood:	n/a	n/a
2	CTCF	chr1:152131520-152131670	RPTEC	kidney:	n/a	n/a
3	CTCF	chr1:152128092-152128203	Lung_OC	lung:	n/a	n/a
4	CTCF	chr1:152130780-152130930	HBMEC	blood vessel:	n/a	chr1:152130786-152130804
5	CTCF	chr1:152127857-152127925	LNCaP	prostate:	n/a	n/a
6	CTCF	chr1:152129240-152129390	HMF	breast:	n/a	n/a
7	MAX	chr1:152129300-152129305	NB4	blood:	n/a	n/a
8	POLR2A	chr1:152129151-152129206	A549	lung:	n/a	n/a
9	ZBTB33	chr1:152128335-152128791	GM12878	blood:	n/a	n/a
10	ZBTB33	chr1:152127792-152128334	GM12878	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:152126975-152127025	BJ	skin:	n/a
2	chr1:152128681-152128731	ECC-1	luminal epithelium:	n/a
3	chr1:152128681-152128731	SK-N-SH_RA	brain:	n/a
4	chr1:152128681-152128731	HCF	heart:	n/a
5	chr1:152128681-152128731	ovcar-3	ovarian:	n/a
6	chr1:152130772-152130822	HRPEpiC	eye:	n/a
7	chr1:152126975-152127025	RPTEC	kidney:	n/a
8	chr1:152130772-152130822	LNCaP	prostate:	n/a
9	chr1:152130772-152130822	NT2-D1	testis:	n/a
10	chr1:152128681-152128731	NHDF-neo	bronchial:	n/a
11	chr1:152130772-152130822	HUVEC	blood vessel:	n/a
12	chr1:152130772-152130822	U87	brain:	n/a
13	chr1:152126975-152127025	HCT-116	colon:	n/a
14	chr1:152126975-152127025	AG09319	gingival:	n/a
15	chr1:152128681-152128731	LNCaP	prostate:	n/a
16	chr1:152126975-152127025	GM06990	blood:	n/a
17	chr1:152126975-152127025	HepG2	liver:	n/a
18	chr1:152130772-152130822	ECC-1	luminal epithelium:	n/a
19	chr1:152126975-152127025	U87	brain:	n/a
20	chr1:152126975-152127025	GM12891	blood:	n/a
21	chr1:152128681-152128731	SAEC	small airway:	n/a
22	chr1:152130772-152130822	MCF-7	breast:	n/a
23	chr1:152126975-152127025	AG04449	skin:	fetal
24	chr1:152128681-152128731	HCPEpiC	choroid plexus:	n/a
25	chr1:152130772-152130822	AG09309	skin:	n/a
26	chr1:152130772-152130822	HL-60	blood:	n/a
27	chr1:152126975-152127025	PANC-1	pancreas:	n/a
28	chr1:152126975-152127025	NT2-D1	testis:	n/a
29	chr1:152128681-152128731	AoSMC	blood vessel:	n/a
30	chr1:152126975-152127025	SKMC	muscle:	n/a
31	chr1:152128681-152128731	HEK293	kidney:	embryo
32	chr1:152126975-152127025	HCPEpiC	choroid plexus:	n/a
33	chr1:152126975-152127025	Hela-S3	cervix:	n/a
34	chr1:152128681-152128731	GM12892	blood:	n/a
35	chr1:152130772-152130822	AoSMC	blood vessel:	n/a
36	chr1:152126975-152127025	PrEC	prostate:	n/a
37	chr1:152128681-152128731	AG04449	skin:	fetal
38	chr1:152128681-152128731	MCF10A-Er-Src	breast:	n/a
39	chr1:152128681-152128731	HRPEpiC	eye:	n/a
40	chr1:152130772-152130822	HEEpiC	esophagus:	n/a
41	chr1:152128681-152128731	BJ	skin:	n/a
42	chr1:152130772-152130822	Hepatocyte	liver:	n/a
43	chr1:152130772-152130822	PrEC	prostate:	n/a
44	chr1:152126975-152127025	HL-60	blood:	n/a
45	chr1:152126975-152127025	GM19239	blood:	n/a
46	chr1:152126975-152127025	PFSK-1	brain:	n/a
47	chr1:152128681-152128731	SKMC	muscle:	n/a
48	chr1:152130772-152130822	Caco-2	colon:	n/a
49	chr1:152126975-152127025	NH-A	brain:	n/a
50	chr1:152130772-152130822	HCT-116	colon:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151999004..152000652-chr1:152126763..152128781,2	MCF-7	breast:
2	chr1:152125491..152127414-chr1:152134352..152136756,3	MCF-7	breast:
3	chr1:152008096..152009641-chr1:152128962..152130538,2	MCF-7	breast:
4	chr1:152125198..152127725-chr1:152135136..152137599,3	MCF-7	breast:
5	chr1:152124388..152127212-chr1:152139209..152141234,3	MCF-7	breast:
6	chr1:152008008..152010475-chr1:152123735..152126708,2	MCF-7	breast:
7	chr1:152126007..152128051-chr1:152155968..152157757,2	MCF-7	breast:
8	chr1:152128532..152130259-chr1:152138292..152140629,2	MCF-7	breast:
9	chr1:152020176..152022085-chr1:152129939..152131843,2	MCF-7	breast:

No data

Variant related genes	Relation type
RPTN	TF binding region
RPTN	CpG island
ENSG00000163191	chromatin interactions
ENSG00000237975	chromatin interactions

Extended variants
information (count: 278 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:278 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71625157	chr1:152126130-152126131	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs183145618	chr1:152126194-152126195	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs367932876	chr1:152126209-152126210	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs184998513	chr1:152126219-152126220	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs566569043	chr1:152126236-152126237	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs535564571	chr1:152126250-152126251	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs76099250	chr1:152126279-152126280	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs555860144	chr1:152126324-152126325	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs370747085	chr1:152126351-152126352	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs189902321	chr1:152126377-152126378	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs544364042	chr1:152126378-152126379	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs557983919	chr1:152126421-152126422	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs577994942	chr1:152126457-152126458	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs3001978	chr1:152126467-152126468	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs183205329	chr1:152126479-152126480	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs115971123	chr1:152126576-152126577	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs149879144	chr1:152126594-152126595	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs111718070	chr1:152126605-152126606	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs144891635	chr1:152126631-152126632	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs187804703	chr1:152126638-152126639	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs571695404	chr1:152126683-152126684	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs531315865	chr1:152126687-152126688	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs532546840	chr1:152126719-152126720	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs113033594	chr1:152126739-152126740	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs550716237	chr1:152126879-152126880	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs570758739	chr1:152126904-152126905	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs201046127	chr1:152126934-152126935	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs562753399	chr1:152126936-152126937	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs191401461	chr1:152126937-152126938	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs546925285	chr1:152126984-152126985	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs566509159	chr1:152126987-152126988	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs536688982	chr1:152127008-152127009	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs535814874	chr1:152127117-152127118	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs183764806	chr1:152127208-152127209	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs188506223	chr1:152127222-152127223	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs199661540	chr1:152127237-152127238	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs201916415	chr1:152127241-152127242	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs201541838	chr1:152127255-152127256	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs200762358	chr1:152127259-152127260	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs192865821	chr1:152127264-152127265	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs201203302	chr1:152127272-152127273	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs554078916	chr1:152127273-152127274	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs201797962	chr1:152127282-152127283	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs202164910	chr1:152127292-152127293	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs369541690	chr1:152127301-152127302	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs542568199	chr1:152127306-152127307	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs372825443	chr1:152127308-152127309	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs377081641	chr1:152127347-152127348	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs184952075	chr1:152127348-152127349	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs200983551	chr1:152127351-152127352	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:122)

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
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152121200-152126200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:152125600-152127400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
3	chr1:152126200-152126800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:152126600-152127400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr1:152126800-152127000	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr1:152126800-152134400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:152127000-152127400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:152127200-152129200	Active TSS	Brain Substantia Nigra	brain
9	chr1:152129800-152133200	Weak transcription	GM12878-XiMat	blood
10	chr1:152131200-152131600	Enhancers	Stomach Mucosa	stomach
11	chr1:152131200-152131800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:152131200-152132000	Enhancers	Primary hematopoietic stem cells	blood
13	chr1:152131200-152132400	Enhancers	NHDF-Ad	bronchial
14	chr1:152131200-152132600	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr1:152131200-152135200	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr1:152131400-152131800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:152131400-152132000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:152131400-152132200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:152131400-152133800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:152131400-152145800	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr1:152131600-152132200	Enhancers	Osteobl	bone
22	chr1:152131600-152137000	Weak transcription	Stomach Mucosa	stomach

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