Variant report

Variant	nsv946528
Chromosome Location	chr1:180400421-180405841
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:180400832-180401196	A549	lung:	n/a	n/a
2	CEBPB	chr1:180400841-180401173	IMR90	lung:	n/a	n/a
3	CEBPB	chr1:180400853-180401173	K562	blood:	n/a	n/a
4	CEBPB	chr1:180400859-180401176	HepG2	liver:	n/a	n/a
5	CEBPB	chr1:180400908-180401196	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr1:180400911-180401103	MCF-7	breast:	n/a	n/a
7	CEBPB	chr1:180400878-180401191	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr1:180405580-180405730	MCF-7	breast:	n/a	n/a
9	CTCF	chr1:180405620-180405770	MCF-7	breast:	n/a	n/a
10	MAFK	chr1:180404967-180405121	HepG2	liver:	n/a	n/a
11	MAFK	chr1:180404950-180405015	HepG2	liver:	n/a	n/a
12	POLR2A	chr1:180404720-180404838	ProgFib	skin:	n/a	n/a
13	POLR2A	chr1:180402778-180402798	ProgFib	skin:	n/a	n/a
14	POLR2A	chr1:180403102-180403207	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr1:180402737-180402774	ProgFib	skin:	n/a	n/a
16	POLR2A	chr1:180401143-180401177	Gliobla	brain:	n/a	n/a
17	RFX5	chr1:180400505-180400590	K562	blood:	n/a	n/a
18	SP1	chr1:180403020-180403424	H1-hESC	embryonic stem cell:	n/a	n/a
19	STAT3	chr1:180404776-180404960	MCF10A-Er-Src	breast:	n/a	n/a
20	STAT3	chr1:180400305-180400434	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:180396509..180398136-chr1:180400657..180403081,2	MCF-7	breast:

No data

Variant related genes	Relation type
VDAC1P4	TF binding region
ACBD6	TF binding region

Extended variants
information (count: 227 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:227 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199945837	chr1:180400423-180400424	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs370168835	chr1:180400449-180400450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372248478	chr1:180400491-180400492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545786759	chr1:180400507-180400508	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs137921589	chr1:180400518-180400519	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs183454776	chr1:180400521-180400522	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs372396950	chr1:180400523-180400524	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs72714894	chr1:180400618-180400619	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs571449165	chr1:180400633-180400634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540294168	chr1:180400634-180400635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs75153184	chr1:180400668-180400669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547540855	chr1:180400738-180400739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188855662	chr1:180400754-180400755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539423548	chr1:180400756-180400757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536256917	chr1:180400774-180400775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558137350	chr1:180400793-180400794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551163020	chr1:180400814-180400815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563038446	chr1:180400825-180400826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569582578	chr1:180400851-180400852	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs538140407	chr1:180400854-180400855	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs533695592	chr1:180400861-180400862	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs552187317	chr1:180400869-180400870	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs557964509	chr1:180400879-180400880	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs570428349	chr1:180400901-180400902	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs550969791	chr1:180400907-180400908	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs374281220	chr1:180400915-180400916	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs577794659	chr1:180400945-180400946	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs534092917	chr1:180400967-180400968	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs139773836	chr1:180400969-180400970	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs6676650	chr1:180400985-180400986	Weak transcription Enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs142914665	chr1:180400999-180401000	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs562728181	chr1:180401003-180401004	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs576318420	chr1:180401015-180401016	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs111899740	chr1:180401031-180401032	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs369452329	chr1:180401054-180401055	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs565151309	chr1:180401057-180401058	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs527501449	chr1:180401071-180401072	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs114453450	chr1:180401086-180401087	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs150670906	chr1:180401204-180401205	Enhancers Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs139077611	chr1:180401256-180401257	Enhancers Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546333957	chr1:180401258-180401259	Enhancers Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549789551	chr1:180401281-180401282	Enhancers Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs192120979	chr1:180401322-180401323	Enhancers Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs35887874	chr1:180401341-180401342	Enhancers Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569775958	chr1:180401342-180401343	Enhancers Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs58568821	chr1:180401354-180401355	Enhancers Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs397982139	chr1:180401355-180401356	Enhancers Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs538175504	chr1:180401405-180401406	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs551673361	chr1:180401476-180401477	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs183523171	chr1:180401524-180401525	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	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
Glioblastoma multiforme	21080181	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
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
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	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
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	16397240	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	23248035	CNVD
Metanephric adenoma	20802469	CNVD
Renal cell carcinoma	18765545	CNVD
Nephroblastoma	17189400	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:173 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180341200-180401400	Weak transcription	Osteobl	bone
2	chr1:180349400-180407000	Weak transcription	Esophagus	oesophagus
3	chr1:180355200-180402600	Weak transcription	HMEC	breast
4	chr1:180356800-180406200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:180356800-180407000	Weak transcription	Aorta	Aorta
6	chr1:180361400-180407600	Weak transcription	HepG2	liver
7	chr1:180364400-180401600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:180364600-180401000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:180365000-180401000	Weak transcription	Ovary	ovary
10	chr1:180365200-180420600	Weak transcription	A549	lung
11	chr1:180365400-180402600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:180374600-180404000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:180376200-180407400	Weak transcription	NHLF	lung
14	chr1:180379000-180430800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:180379800-180406000	Weak transcription	Left Ventricle	heart
16	chr1:180380400-180401000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr1:180380400-180408000	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr1:180381200-180402800	Weak transcription	NHEK	skin
19	chr1:180381200-180406400	Weak transcription	Fetal Stomach	stomach
20	chr1:180381400-180401000	Weak transcription	HSMM	muscle
21	chr1:180382400-180401000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:180382400-180410800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr1:180382600-180400800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:180382600-180402800	Weak transcription	Placenta	Placenta
25	chr1:180382600-180406000	Weak transcription	Dnd41	blood
26	chr1:180382600-180406400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:180382600-180406600	Weak transcription	Hela-S3	cervix
28	chr1:180385600-180401600	Weak transcription	Fetal Kidney	kidney
29	chr1:180389600-180406000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr1:180389800-180410400	Weak transcription	Fetal Intestine Large	intestine
31	chr1:180390200-180401600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr1:180391000-180409000	Weak transcription	Primary T cells from cord blood	blood
33	chr1:180391200-180410200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:180391400-180404800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:180391600-180403800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr1:180391800-180402800	Weak transcription	Fetal Intestine Small	intestine
37	chr1:180391800-180404000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:180391800-180408000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr1:180392000-180403000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:180392200-180405400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:180392600-180446200	Weak transcription	K562	blood
42	chr1:180394400-180407000	Weak transcription	Psoas Muscle	Psoas
43	chr1:180394400-180407800	Weak transcription	Primary B cells from peripheral blood	blood
44	chr1:180394600-180405000	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr1:180394600-180407000	Weak transcription	Brain Germinal Matrix	brain
46	chr1:180394800-180401600	Weak transcription	NHDF-Ad	bronchial
47	chr1:180394800-180403000	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr1:180394800-180420200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:180395800-180402800	Weak transcription	Fetal Brain Female	brain
50	chr1:180396000-180401400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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