Variant report

Variant	nsv437269
Chromosome Location	chr1:170343289-170361172
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:170346972-170347258	IMR90	lung:	n/a	chr1:170347126-170347137
2	CEBPB	chr1:170344834-170345027	IMR90	lung:	n/a	n/a
3	CEBPB	chr1:170354892-170355129	HepG2	liver:	n/a	chr1:170355032-170355043
4	CEBPB	chr1:170354950-170355192	Hela-S3	cervix:	n/a	chr1:170355032-170355043
5	CEBPB	chr1:170346977-170347172	K562	blood:	n/a	chr1:170347126-170347137
6	CEBPB	chr1:170346974-170347263	HepG2	liver:	n/a	chr1:170347126-170347137
7	CTCF	chr1:170350487-170350563	LNCaP	prostate:	n/a	n/a
8	CTCF	chr1:170344300-170344332	Pancreas_OC	pancreas:	n/a	n/a
9	CTCF	chr1:170347620-170347770	NHDF-neo	bronchial:	n/a	n/a
10	CTCF	chr1:170353311-170353378	Medullo	brain:	n/a	n/a
11	E2F4	chr1:170350185-170350549	MCF10A-Er-Src	breast:	n/a	n/a
12	GATA3	chr1:170359926-170360143	SH-SY5Y	brain:	n/a	n/a
13	MYC	chr1:170357581-170357826	MCF10A-Er-Src	breast:	n/a	n/a
14	NFYB	chr1:170347010-170347128	GM12878	blood:	n/a	n/a
15	POLR2A	chr1:170355368-170355449	MCF-7	breast:	n/a	n/a
16	POLR2A	chr1:170346565-170346606	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr1:170355347-170355352	MCF-7	breast:	n/a	n/a
18	POLR2A	chr1:170354343-170354360	Gliobla	brain:	n/a	n/a
19	POLR2A	chr1:170355342-170355345	MCF-7	breast:	n/a	n/a
20	POLR2A	chr1:170346496-170346798	H1-neurons	neurons:	n/a	n/a
21	STAT3	chr1:170357381-170357558	MCF10A-Er-Src	breast:	n/a	n/a
22	USF2	chr1:170355063-170355118	HepG2	liver:	n/a	n/a
23	ZNF263	chr1:170357492-170357836	HEK293-T-REx	kidney:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:170344621-170344671	NB4	blood:	n/a
2	chr1:170344621-170344671	PANC-1	pancreas:	n/a
3	chr1:170344621-170344671	Hela-S3	cervix:	n/a
4	chr1:170344621-170344671	Caco-2	colon:	n/a
5	chr1:170344621-170344671	AG09319	gingival:	n/a
6	chr1:170344621-170344671	Jurkat	blood:	n/a
7	chr1:170344621-170344671	HCT-116	colon:	n/a
8	chr1:170344621-170344671	NT2-D1	testis:	n/a
9	chr1:170344621-170344671	AoSMC	blood vessel:	n/a
10	chr1:170344621-170344671	HCF	heart:	n/a
11	chr1:170344621-170344671	ECC-1	luminal epithelium:	n/a
12	chr1:170344621-170344671	HEEpiC	esophagus:	n/a
13	chr1:170344621-170344671	LNCaP	prostate:	n/a
14	chr1:170344621-170344671	SK-N-MC	brain:	n/a
15	chr1:170344621-170344671	SAEC	small airway:	n/a
16	chr1:170344621-170344671	HCM	heart:	n/a
17	chr1:170344621-170344671	CMK	blood:	n/a
18	chr1:170344621-170344671	AG09309	skin:	n/a
19	chr1:170344621-170344671	HIPEpiC	eye:	n/a
20	chr1:170344621-170344671	HepG2	liver:	n/a
21	chr1:170344621-170344671	HRCEpiC	kidney:	n/a
22	chr1:170344621-170344671	NHDF-neo	bronchial:	n/a
23	chr1:170344621-170344671	MCF10A-Er-Src	breast:	n/a
24	chr1:170344621-170344671	PrEC	prostate:	n/a
25	chr1:170344621-170344671	HRE	kidney:	n/a
26	chr1:170344621-170344671	U87	brain:	n/a
27	chr1:170344621-170344671	BE2_C	brain:	n/a
28	chr1:170344621-170344671	Hepatocyte	liver:	n/a
29	chr1:170344621-170344671	NHBE	bronchial:	n/a
30	chr1:170344621-170344671	NH-A	brain:	n/a
31	chr1:170344621-170344671	A549	lung:	n/a
32	chr1:170344621-170344671	GM12891	blood:	n/a
33	chr1:170344621-170344671	GM06990	blood:	n/a
34	chr1:170344621-170344671	ProgFib	skin:	n/a
35	chr1:170344621-170344671	HCPEpiC	choroid plexus:	n/a
36	chr1:170344621-170344671	HAEpiC	amniotic membrane:	n/a
37	chr1:170344621-170344671	HL-60	blood:	n/a
38	chr1:170344621-170344671	GM12878	blood:	n/a
39	chr1:170344621-170344671	HRPEpiC	eye:	n/a
40	chr1:170344621-170344671	AG04449	skin:	fetal
41	chr1:170344621-170344671	PFSK-1	brain:	n/a
42	chr1:170344621-170344671	HPAEpiC	pulmonary alveolar:	n/a
43	chr1:170344621-170344671	BJ	skin:	n/a
44	chr1:170344621-170344671	HMEC	breast:	n/a
45	chr1:170344621-170344671	GM12892	blood:	n/a
46	chr1:170344621-170344671	SK-N-SH	brain:	n/a
47	chr1:170344621-170344671	H1-hESC	embryonic stem cell:	embryo
48	chr1:170344621-170344671	HNPCEpiC	eye:	n/a
49	chr1:170344621-170344671	GM19239	blood:	n/a
50	chr1:170344621-170344671	ovcar-3	ovarian:	n/a

No data

Variant related genes	Relation type
HAUS4P1	TF binding region
ENSG00000263384	TF binding region
HAUS4P1	CpG island
ENSG00000263384	CpG island

Extended variants
information (count: 358 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:358 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1930539	chr1:170343837-170343838	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs375023201	chr1:170343861-170343862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140419746	chr1:170343876-170343877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs144073433	chr1:170343991-170343992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572969947	chr1:170344008-170344009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540022660	chr1:170344019-170344020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190511630	chr1:170344040-170344041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529134785	chr1:170344078-170344079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544520232	chr1:170344092-170344093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563668276	chr1:170344097-170344098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530967620	chr1:170344110-170344111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146489375	chr1:170344161-170344162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12070350	chr1:170344251-170344252	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs531515471	chr1:170344301-170344302	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs566858439	chr1:170344333-170344334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528608039	chr1:170344394-170344395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546845087	chr1:170344396-170344397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568651305	chr1:170344456-170344457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544988149	chr1:170344473-170344474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569953909	chr1:170344481-170344482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs3119913	chr1:170344494-170344495	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs2151250	chr1:170344521-170344522	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs75826015	chr1:170344538-170344539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547913124	chr1:170344603-170344604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183479265	chr1:170344621-170344622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572813325	chr1:170344623-170344624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374990244	chr1:170344688-170344689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2151251	chr1:170344693-170344694	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs537375154	chr1:170344733-170344734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186296451	chr1:170344775-170344776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573827184	chr1:170344797-170344798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192238497	chr1:170344839-170344840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554373535	chr1:170344860-170344861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562805003	chr1:170344885-170344886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7522128	chr1:170344890-170344891	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs144649534	chr1:170344902-170344903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540247957	chr1:170344903-170344904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115018949	chr1:170344914-170344915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142124593	chr1:170344929-170344930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs59339899	chr1:170344930-170344931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560461132	chr1:170344977-170344978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75047765	chr1:170344986-170344987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182748086	chr1:170345017-170345018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529487948	chr1:170345037-170345038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187773560	chr1:170345046-170345047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10919367	chr1:170345075-170345076	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs539758895	chr1:170345082-170345083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138342830	chr1:170345093-170345094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs367964201	chr1:170345100-170345101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372104929	chr1:170345101-170345102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:170343800-170344600	Enhancers	Fetal Stomach	stomach
2	chr1:170343800-170346600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:170344000-170344400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:170344000-170344400	Enhancers	Lung	lung
5	chr1:170344000-170344600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:170344000-170345000	Enhancers	H9 Cell Line	embryonic stem cell
7	chr1:170344200-170345000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr1:170344600-170344800	Enhancers	NHLF	lung
9	chr1:170344600-170345000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr1:170344600-170345000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr1:170344600-170345200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:170344600-170345600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr1:170344600-170346400	Weak transcription	Fetal Stomach	stomach
14	chr1:170344800-170345600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr1:170344800-170346800	Weak transcription	NHLF	lung
16	chr1:170345200-170345400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:170345600-170345800	Enhancers	Ovary	ovary
18	chr1:170345600-170346600	Enhancers	NHDF-Ad	bronchial
19	chr1:170345600-170347800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:170346000-170346600	Weak transcription	Ovary	ovary
21	chr1:170346000-170347600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:170346000-170348000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:170346400-170346600	Enhancers	Fetal Stomach	stomach
24	chr1:170346400-170347000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:170346600-170346800	Enhancers	Ovary	ovary
26	chr1:170346600-170347200	Enhancers	Rectal Smooth Muscle	rectum
27	chr1:170346600-170347600	Weak transcription	Fetal Stomach	stomach
28	chr1:170346600-170347600	Weak transcription	NHDF-Ad	bronchial
29	chr1:170346800-170347400	Weak transcription	Ovary	ovary
30	chr1:170346800-170347800	Enhancers	NHLF	lung
31	chr1:170347000-170347800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:170347000-170347800	Enhancers	Osteobl	bone
33	chr1:170347600-170347800	Enhancers	Fetal Stomach	stomach
34	chr1:170347600-170347800	Enhancers	Ovary	ovary
35	chr1:170347600-170348000	Enhancers	NHDF-Ad	bronchial
36	chr1:170347800-170348000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:170354000-170354600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr1:170354600-170357600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:170357000-170358000	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr1:170357400-170357800	Enhancers	NHEK	skin
41	chr1:170357400-170358000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:170357400-170358200	Enhancers	HMEC	breast
43	chr1:170357600-170358000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr1:170357600-170358000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr1:170357800-170358200	Enhancers	Left Ventricle	heart
46	chr1:170360800-170361400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:170361000-170361400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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