Variant report

Variant	esv15442
Chromosome Location	chr1:113664477-113665870
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:113659452..113662278-chr1:113663764..113665517,3	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116456453	chr1:113664480-113664481	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565172683	chr1:113664509-113664510	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531029612	chr1:113664550-113664551	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568611510	chr1:113664559-113664560	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376317266	chr1:113664698-113664699	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1216797	chr1:113664768-113664769	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs529815927	chr1:113664785-113664786	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546410861	chr1:113664790-113664791	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566408512	chr1:113664797-113664798	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532307669	chr1:113664838-113664839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548042864	chr1:113664880-113664881	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185125503	chr1:113664901-113664902	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112997127	chr1:113664924-113664925	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140264281	chr1:113664939-113664940	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189530129	chr1:113664940-113664941	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181835252	chr1:113664942-113664943	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs35406893	chr1:113664952-113664953	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553633939	chr1:113664970-113664971	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115943429	chr1:113665054-113665055	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs56062236	chr1:113665118-113665119	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs56749279	chr1:113665121-113665122	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545760768	chr1:113665160-113665161	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183894202	chr1:113665232-113665233	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575508450	chr1:113665282-113665283	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533816535	chr1:113665353-113665354	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147629528	chr1:113665358-113665359	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1216798	chr1:113665361-113665362	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs188225770	chr1:113665549-113665550	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539010707	chr1:113665562-113665563	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540023337	chr1:113665585-113665586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181566626	chr1:113665588-113665589	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532271921	chr1:113665681-113665682	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186333298	chr1:113665740-113665741	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557438444	chr1:113665815-113665816	Weak transcription Strong transcription	n/a	n/a	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:149 , 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	chr1:113634200-113669800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr1:113634200-113669800	Strong transcription	Primary B cells from peripheral blood	blood
7	chr1:113634200-113670000	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr1:113634200-113671400	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr1:113634200-113673000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:113634400-113672600	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr1:113634600-113666600	Strong transcription	Stomach Smooth Muscle	stomach
12	chr1:113634600-113669800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr1:113634600-113669800	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr1:113634600-113669800	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr1:113634600-113670000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:113634600-113671200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:113634600-113671600	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr1:113634600-113673000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:113635000-113666800	Strong transcription	Liver	Liver
20	chr1:113635000-113669600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr1:113635800-113666600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr1:113635800-113669800	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:113636000-113666800	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr1:113636000-113669800	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr1:113636000-113671200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:113636000-113671400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr1:113636000-113671400	Strong transcription	Fetal Thymus	thymus
28	chr1:113636000-113671600	Strong transcription	Duodenum Mucosa	Duodenum
29	chr1:113636200-113669600	Strong transcription	Fetal Intestine Large	intestine
30	chr1:113636400-113666800	Strong transcription	Adipose Nuclei	Adipose
31	chr1:113636400-113669800	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr1:113636400-113670000	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr1:113638400-113667400	Strong transcription	HepG2	liver
34	chr1:113639200-113669600	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr1:113641200-113669800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr1:113643600-113670000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:113646400-113672600	Strong transcription	Placenta	Placenta
38	chr1:113650800-113667800	Strong transcription	Fetal Intestine Small	intestine
39	chr1:113650800-113671000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr1:113651000-113671200	Strong transcription	Fetal Muscle Trunk	muscle
41	chr1:113651600-113665600	Strong transcription	Fetal Brain Female	brain
42	chr1:113652200-113664800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
43	chr1:113653400-113668400	Strong transcription	Colonic Mucosa	Colon
44	chr1:113653600-113666200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:113653600-113673000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:113653800-113665400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr1:113655600-113669800	Strong transcription	Hela-S3	cervix
48	chr1:113656600-113669600	Strong transcription	Fetal Muscle Leg	muscle
49	chr1:113656600-113669800	Strong transcription	H9 Cell Line	embryonic stem cell
50	chr1:113656600-113672400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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