Variant report

Variant	nsv160180
Chromosome Location	chr1:150765276-150772670
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:122)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr1:150771004-150771176	K562	blood:	n/a	n/a
2	CEBPB	chr1:150765976-150766074	HepG2	liver:	n/a	chr1:150766031-150766044 chr1:150766031-150766042 chr1:150766032-150766043
3	CEBPB	chr1:150765901-150766063	IMR90	lung:	n/a	chr1:150766031-150766044 chr1:150766031-150766042 chr1:150766032-150766043
4	CTCF	chr1:150771060-150771210	GM12871	blood:	n/a	n/a
5	CTCF	chr1:150772020-150772170	WERI-Rb-1	eye:	n/a	n/a
6	E2F6	chr1:150772040-150772480	H1-hESC	embryonic stem cell:	n/a	n/a
7	KAP1	chr1:150770950-150771273	HEK293	kidney:	n/a	n/a
8	MAX	chr1:150772192-150772463	H1-hESC	embryonic stem cell:	n/a	chr1:150772231-150772240
9	MAZ	chr1:150771094-150771180	K562	blood:	n/a	n/a
10	POLR2A	chr1:150766751-150766898	HepG2	liver:	n/a	n/a
11	POLR2A	chr1:150770970-150771125	HepG2	liver:	n/a	n/a
12	POLR2A	chr1:150766205-150766523	GM12891	blood:	n/a	n/a
13	SPI1	chr1:150765636-150766068	HL-60	blood:	n/a	n/a
14	ZNF274	chr1:150770969-150771267	NT2-D1	testis:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:150768932-150768982	GM06990	blood:	n/a
2	chr1:150768932-150768982	SK-N-SH	brain:	n/a
3	chr1:150770803-150770853	SAEC	small airway:	n/a
4	chr1:150770803-150770853	K562	blood:	n/a
5	chr1:150768932-150768982	IMR90	lung:	fetal
6	chr1:150768932-150768982	GM19239	blood:	n/a
7	chr1:150768932-150768982	HNPCEpiC	eye:	n/a
8	chr1:150768932-150768982	AG09309	skin:	n/a
9	chr1:150770803-150770853	PrEC	prostate:	n/a
10	chr1:150768932-150768982	Caco-2	colon:	n/a
11	chr1:150770803-150770853	NT2-D1	testis:	n/a
12	chr1:150768932-150768982	HUVEC	blood vessel:	n/a
13	chr1:150770803-150770853	HCM	heart:	n/a
14	chr1:150770803-150770853	Hela-S3	cervix:	n/a
15	chr1:150770803-150770853	GM19239	blood:	n/a
16	chr1:150768932-150768982	ECC-1	luminal epithelium:	n/a
17	chr1:150770803-150770853	AG04450	lung:	fetal
18	chr1:150770803-150770853	SK-N-SH_RA	brain:	n/a
19	chr1:150770803-150770853	HRPEpiC	eye:	n/a
20	chr1:150770803-150770853	ECC-1	luminal epithelium:	n/a
21	chr1:150770803-150770853	Hepatocyte	liver:	n/a
22	chr1:150770803-150770853	GM06990	blood:	n/a
23	chr1:150768932-150768982	PrEC	prostate:	n/a
24	chr1:150768932-150768982	AG10803	skin:	n/a
25	chr1:150768932-150768982	K562	blood:	n/a
26	chr1:150768932-150768982	HCM	heart:	n/a
27	chr1:150770803-150770853	ProgFib	skin:	n/a
28	chr1:150768932-150768982	Jurkat	blood:	n/a
29	chr1:150770803-150770853	HNPCEpiC	eye:	n/a
30	chr1:150768932-150768982	GM12892	blood:	n/a
31	chr1:150770803-150770853	NHBE	bronchial:	n/a
32	chr1:150768932-150768982	A549	lung:	n/a
33	chr1:150770803-150770853	PANC-1	pancreas:	n/a
34	chr1:150770803-150770853	BJ	skin:	n/a
35	chr1:150768932-150768982	CMK	blood:	n/a
36	chr1:150770803-150770853	SK-N-MC	brain:	n/a
37	chr1:150768932-150768982	SAEC	small airway:	n/a
38	chr1:150768932-150768982	T-47D	breast:	n/a
39	chr1:150768932-150768982	GM12878	blood:	n/a
40	chr1:150768932-150768982	SKMC	muscle:	n/a
41	chr1:150768932-150768982	HCPEpiC	choroid plexus:	n/a
42	chr1:150770803-150770853	CMK	blood:	n/a
43	chr1:150770803-150770853	IMR90	lung:	fetal
44	chr1:150768932-150768982	HCT-116	colon:	n/a
45	chr1:150770803-150770853	AG10803	skin:	n/a
46	chr1:150770803-150770853	NH-A	brain:	n/a
47	chr1:150768932-150768982	HIPEpiC	eye:	n/a
48	chr1:150770803-150770853	Caco-2	colon:	n/a
49	chr1:150768932-150768982	NH-A	brain:	n/a
50	chr1:150770803-150770853	HUVEC	blood vessel:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150758246..150759867-chr1:150770276..150772324,2	K562	blood:
2	chr1:150766703..150768461-chr1:150769948..150772037,2	MCF-7	breast:
3	chr1:150761240..150763209-chr1:150766177..150768567,2	MCF-7	breast:
4	chr1:150769648..150771836-chr1:150777796..150780549,2	K562	blood:
5	chr1:150766703..150768461-chr1:150769948..150772037,2	MCF-7	breast:
6	chr1:150533878..150535491-chr1:150763777..150766067,2	K562	blood:
7	chr1:150718351..150719880-chr1:150768109..150769621,2	K562	blood:

No data

Variant related genes	Relation type
UBE2D3P3	TF binding region
UBE2D3P3	CpG island
ENSG00000143387	chromatin interactions
ENSG00000203804	chromatin interactions

Extended variants
information (count: 268 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:268 , 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	rs369010879	chr1:150765276-150765277	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs61427118	chr1:150765279-150765280	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs12724721	chr1:150765280-150765281	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
4	rs59559117	chr1:150765282-150765283	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs371244390	chr1:150765283-150765284	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs28562129	chr1:150765287-150765288	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs12758983	chr1:150765288-150765289	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs12758985	chr1:150765292-150765293	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs12078396	chr1:150765296-150765297	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs373799067	chr1:150765300-150765301	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs147814015	chr1:150765307-150765308	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs587693582	chr1:150765309-150765310	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs186772410	chr1:150765327-150765328	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs587757416	chr1:150765359-150765360	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs28683594	chr1:150765498-150765499	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs28464650	chr1:150765499-150765500	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs587649332	chr1:150765513-150765514	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs587714657	chr1:150765528-150765529	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs587776006	chr1:150765530-150765531	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs111375233	chr1:150765561-150765562	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs587668784	chr1:150765568-150765569	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs587725341	chr1:150765583-150765584	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs372392508	chr1:150765620-150765621	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs374339197	chr1:150765623-150765624	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs587623498	chr1:150765628-150765629	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs587680544	chr1:150765632-150765633	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs200807522	chr1:150765833-150765834	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs190394740	chr1:150765842-150765843	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs183346300	chr1:150765961-150765962	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs587668001	chr1:150766034-150766035	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs141350035	chr1:150766070-150766071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs587632341	chr1:150766083-150766084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs201748204	chr1:150766085-150766086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs60007387	chr1:150766086-150766087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11488154	chr1:150766087-150766088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
36	rs199616237	chr1:150766088-150766089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs397862872	chr1:150766095-150766096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187713908	chr1:150766141-150766142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs12725806	chr1:150766170-150766171	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs145873050	chr1:150766213-150766214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs587685447	chr1:150766250-150766251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs587770807	chr1:150766364-150766365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs587668765	chr1:150766373-150766374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs587727574	chr1:150766475-150766476	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs371511102	chr1:150766502-150766503	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs587633028	chr1:150766506-150766507	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs587718732	chr1:150766514-150766515	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs587597635	chr1:150766542-150766543	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs189887711	chr1:150766555-150766556	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs77256001	chr1:150766673-150766674	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

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
Cancer	23975201	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:323 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150744600-150768200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:150750600-150767600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:150756200-150766800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:150756400-150767600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:150758800-150768400	Weak transcription	Brain Germinal Matrix	brain
6	chr1:150760400-150768200	Weak transcription	Brain Hippocampus Middle	brain
7	chr1:150760400-150771000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:150760600-150768200	Weak transcription	Adipose Nuclei	Adipose
9	chr1:150760600-150768200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr1:150760600-150768400	Weak transcription	Fetal Lung	lung
11	chr1:150760600-150768800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr1:150760600-150768800	Weak transcription	Fetal Intestine Small	intestine
13	chr1:150760600-150769000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr1:150760600-150770200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:150760600-150771000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:150760600-150771400	Weak transcription	Fetal Kidney	kidney
17	chr1:150760600-150779600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr1:150760800-150768200	Weak transcription	NHLF	lung
19	chr1:150760800-150768600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr1:150760800-150768800	Weak transcription	Brain Anterior Caudate	brain
21	chr1:150760800-150771000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:150761000-150768000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:150761000-150768000	Weak transcription	Left Ventricle	heart
24	chr1:150761000-150768400	Weak transcription	Colonic Mucosa	Colon
25	chr1:150761200-150768000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:150761200-150768000	Weak transcription	Aorta	Aorta
27	chr1:150761200-150771000	Weak transcription	Primary B cells from peripheral blood	blood
28	chr1:150761200-150783200	Weak transcription	GM12878-XiMat	blood
29	chr1:150761800-150770800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr1:150762000-150767800	Weak transcription	NHDF-Ad	bronchial
31	chr1:150762200-150768800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr1:150762400-150767800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:150762400-150768000	Weak transcription	Pancreas	Pancrea
34	chr1:150762400-150768800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:150762400-150769000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:150762400-150770200	Weak transcription	Esophagus	oesophagus
37	chr1:150762400-150779200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr1:150762400-150780000	Weak transcription	NHEK	skin
39	chr1:150762600-150768000	Weak transcription	Placenta	Placenta
40	chr1:150762600-150768200	Weak transcription	Ovary	ovary
41	chr1:150762600-150768600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:150762600-150768800	Weak transcription	Spleen	Spleen
43	chr1:150762800-150768000	Weak transcription	Lung	lung
44	chr1:150763200-150767400	Weak transcription	Fetal Stomach	stomach
45	chr1:150763400-150769600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr1:150764200-150770600	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr1:150764400-150767800	Weak transcription	Osteobl	bone
48	chr1:150764600-150768000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr1:150764600-150781600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:150764800-150766400	Enhancers	Monocytes-CD14+_RO01746	blood

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