Variant report

Variant	esv3413932
Chromosome Location	chr1:113648314-113648906
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:113631432..113633017-chr1:113648124..113650659,2	K562	blood:
2	chr1:113615751..113617568-chr1:113647415..113649634,2	MCF-7	breast:
3	chr1:113643184..113647112-chr1:113648558..113651712,3	K562	blood:
4	chr1:113646559..113648426-chr1:113653235..113655609,2	K562	blood:

Variant related genes	Relation type
ENSG00000198799	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543811535	chr1:113648440-113648441	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs60674108	chr1:113648471-113648472	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs560611955	chr1:113648507-113648508	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs541837259	chr1:113648511-113648512	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs529755185	chr1:113648536-113648537	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs542784845	chr1:113648542-113648543	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs1619133	chr1:113648601-113648602	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs529390093	chr1:113648603-113648604	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs552096846	chr1:113648676-113648677	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs187457708	chr1:113648702-113648703	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs201863652	chr1:113648765-113648766	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs199840665	chr1:113648782-113648783	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs567732132	chr1:113648799-113648800	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs536769226	chr1:113648810-113648811	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs397864014	chr1:113648850-113648851	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs202072826	chr1:113648851-113648852	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs552874403	chr1:113648857-113648858	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs12131768	chr1:113648862-113648863	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	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
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Asthma	20841430	CNVD
Aetanephric adenomas	20802469	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	21956041	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	16573809	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Breast cancer	17899364	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Melanoma	19671679	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113631800-113666600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:113633600-113672600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:113633800-113670000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr1:113633800-113672600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:113634200-113655200	Strong transcription	Hela-S3	cervix
6	chr1:113634200-113656000	Strong transcription	Dnd41	blood
7	chr1:113634200-113669800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr1:113634200-113669800	Strong transcription	Primary B cells from peripheral blood	blood
9	chr1:113634200-113670000	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr1:113634200-113671400	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:113634200-113673000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:113634400-113655600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:113634400-113672600	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr1:113634600-113652200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:113634600-113655600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:113634600-113655600	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr1:113634600-113666600	Strong transcription	Stomach Smooth Muscle	stomach
18	chr1:113634600-113669800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr1:113634600-113669800	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr1:113634600-113669800	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr1:113634600-113670000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:113634600-113671200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:113634600-113671600	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr1:113634600-113673000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:113635000-113666800	Strong transcription	Liver	Liver
26	chr1:113635000-113669600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr1:113635600-113652400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:113635800-113649200	Strong transcription	Fetal Muscle Trunk	muscle
29	chr1:113635800-113650600	Strong transcription	NH-A	brain
30	chr1:113635800-113655800	Strong transcription	Fetal Muscle Leg	muscle
31	chr1:113635800-113666600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr1:113635800-113669800	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr1:113636000-113648600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr1:113636000-113648600	Strong transcription	HSMM	muscle
35	chr1:113636000-113652200	Strong transcription	Osteobl	bone
36	chr1:113636000-113655600	Strong transcription	Primary T cells from cord blood	blood
37	chr1:113636000-113655600	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr1:113636000-113655800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:113636000-113662800	Strong transcription	HMEC	breast
40	chr1:113636000-113666800	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr1:113636000-113669800	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr1:113636000-113671200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:113636000-113671400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr1:113636000-113671400	Strong transcription	Fetal Thymus	thymus
45	chr1:113636000-113671600	Strong transcription	Duodenum Mucosa	Duodenum
46	chr1:113636200-113669600	Strong transcription	Fetal Intestine Large	intestine
47	chr1:113636400-113662600	Strong transcription	K562	blood
48	chr1:113636400-113666800	Strong transcription	Adipose Nuclei	Adipose
49	chr1:113636400-113669800	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr1:113636400-113670000	Strong transcription	H1 Cell Line	embryonic stem cell

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