Variant report

Variant	esv3404470
Chromosome Location	chr1:242059721-242060116
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:242059371..242060335-chr1:242161395..242162231,4	MCF-7	breast:
2	chr1:242059953..242061763-chr1:242068532..242070106,2	K562	blood:
3	chr1:242059370..242060370-chr1:242148860..242150209,7	MCF-7	breast:
4	chr1:242010596..242013102-chr1:242058609..242060123,2	K562	blood:
5	chr1:242059480..242060334-chr1:242148747..242149804,4	K562	blood:
6	chr1:242059613..242060290-chr1:242179713..242180384,2	MCF-7	breast:
7	chr1:242059401..242060332-chr1:242161246..242162002,4	K562	blood:
8	chr1:242059673..242060311-chr1:242149546..242150431,2	MCF-7	breast:
9	chr1:241774093..241774637-chr1:242059374..242059913,2	K562	blood:
10	chr1:242059414..242060329-chr1:242180301..242181638,4	K562	blood:
11	chr1:242059788..242060336-chr1:242180683..242181366,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000174371	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7530305	chr1:242059730-242059731	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs537187513	chr1:242059735-242059736	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs386641205	chr1:242059747-242059748	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs112564209	chr1:242059748-242059749	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs7527937	chr1:242059749-242059750	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs536512917	chr1:242059789-242059790	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs375720543	chr1:242059797-242059798	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs553251722	chr1:242059802-242059803	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs573080053	chr1:242059820-242059821	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs372171540	chr1:242059923-242059924	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs557721845	chr1:242059945-242059946	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs148575343	chr1:242059987-242059988	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs74151021	chr1:242059998-242059999	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs141369948	chr1:242060057-242060058	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs558508356	chr1:242060059-242060060	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs575332122	chr1:242060112-242060113	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Liposarcoma	21253554	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
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Hepatocellular carcinoma	16750200	CNVD
Arrhythmogenic right ventricular cardiomyopathy	17576883	CNVD
Multiple myeloma	16616336	CNVD
Developmental delay	21147756	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Glioblastoma	18772890	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Brain overgrowth syndrome	24179207	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242012400-242060200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:242018400-242065600	Weak transcription	Fetal Stomach	stomach
3	chr1:242026400-242082000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:242030400-242063600	Weak transcription	NHDF-Ad	bronchial
5	chr1:242037600-242065400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:242043800-242065400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr1:242046800-242063400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:242052000-242062200	Weak transcription	Thymus	Thymus
9	chr1:242053000-242061800	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr1:242053600-242061800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr1:242053800-242069800	Weak transcription	K562	blood
12	chr1:242054200-242065800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:242054600-242065200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr1:242054800-242065400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:242054800-242065800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr1:242054800-242073000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:242055000-242064200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr1:242055000-242066400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:242055600-242065000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr1:242055800-242065800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr1:242056400-242061600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:242056400-242061800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:242058400-242062200	Weak transcription	GM12878-XiMat	blood
24	chr1:242059600-242059800	Enhancers	Primary B cells from peripheral blood	blood
25	chr1:242059600-242059800	Enhancers	A549	lung
26	chr1:242059600-242059800	Enhancers	Hela-S3	cervix
27	chr1:242059600-242059800	Enhancers	HepG2	liver
28	chr1:242059600-242060200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:242059600-242060600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:242059600-242064400	Strong transcription	Dnd41	blood
31	chr1:242059600-242065800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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