Variant report

Variant	nsv946148
Chromosome Location	chr1:113662013-113664460
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:113656710..113658812-chr1:113662117..113664067,2	MCF-7	breast:
2	chr1:113659452..113662278-chr1:113663764..113665517,3	K562	blood:
3	chr1:113657496..113659381-chr1:113661236..113663990,2	K562	blood:
4	chr1:113659452..113662278-chr1:113663764..113665517,3	K562	blood:

Extended variants
information (count: 84 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375852523	chr1:113662022-113662023	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs368990855	chr1:113662037-113662038	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372600026	chr1:113662038-113662039	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557473129	chr1:113662047-113662048	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376943960	chr1:113662060-113662061	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371212924	chr1:113662062-113662063	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376745248	chr1:113662078-113662079	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370846122	chr1:113662079-113662080	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375307100	chr1:113662099-113662100	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576228795	chr1:113662121-113662122	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148502496	chr1:113662142-113662143	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373948224	chr1:113662155-113662156	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529253305	chr1:113662185-113662186	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs367898905	chr1:113662186-113662187	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549130977	chr1:113662203-113662204	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79841663	chr1:113662213-113662214	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12568813	chr1:113662249-113662250	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs557975851	chr1:113662260-113662261	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571516474	chr1:113662265-113662266	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561597135	chr1:113662328-113662329	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536859162	chr1:113662330-113662331	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557182713	chr1:113662369-113662370	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141140694	chr1:113662433-113662434	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs184231945	chr1:113662496-113662497	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs536220401	chr1:113662541-113662542	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs552727095	chr1:113662542-113662543	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs113953471	chr1:113662562-113662563	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs544750113	chr1:113662563-113662564	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs531826572	chr1:113662626-113662627	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs187761918	chr1:113662702-113662703	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs549943800	chr1:113662722-113662723	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs563981323	chr1:113662774-113662775	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs529589884	chr1:113662782-113662783	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs557426054	chr1:113662786-113662787	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs549345664	chr1:113662809-113662810	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559828202	chr1:113662882-113662883	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs71575182	chr1:113662906-113662907	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528596605	chr1:113662907-113662908	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71590541	chr1:113662917-113662918	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551855336	chr1:113662935-113662936	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs28558366	chr1:113662944-113662945	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192325967	chr1:113663020-113663021	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182246554	chr1:113663025-113663026	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186552968	chr1:113663072-113663073	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567534338	chr1:113663147-113663148	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536192593	chr1:113663179-113663180	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552544413	chr1:113663186-113663187	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143963656	chr1:113663201-113663202	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538255380	chr1:113663202-113663203	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558195479	chr1:113663218-113663219	Strong transcription Weak 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:180 , 50 per page) page: 1 2 3 4

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	chr1:113636000-113662800	Strong transcription	HMEC	breast
24	chr1:113636000-113666800	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr1:113636000-113669800	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr1:113636000-113671200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:113636000-113671400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr1:113636000-113671400	Strong transcription	Fetal Thymus	thymus
29	chr1:113636000-113671600	Strong transcription	Duodenum Mucosa	Duodenum
30	chr1:113636200-113669600	Strong transcription	Fetal Intestine Large	intestine
31	chr1:113636400-113662600	Strong transcription	K562	blood
32	chr1:113636400-113666800	Strong transcription	Adipose Nuclei	Adipose
33	chr1:113636400-113669800	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr1:113636400-113670000	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr1:113638400-113667400	Strong transcription	HepG2	liver
36	chr1:113639200-113669600	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr1:113641200-113669800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr1:113643600-113670000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:113645600-113662400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:113646400-113672600	Strong transcription	Placenta	Placenta
41	chr1:113650800-113667800	Strong transcription	Fetal Intestine Small	intestine
42	chr1:113650800-113671000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr1:113651000-113671200	Strong transcription	Fetal Muscle Trunk	muscle
44	chr1:113651600-113662800	Strong transcription	GM12878-XiMat	blood
45	chr1:113651600-113665600	Strong transcription	Fetal Brain Female	brain
46	chr1:113652200-113664800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
47	chr1:113653400-113668400	Strong transcription	Colonic Mucosa	Colon
48	chr1:113653600-113666200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:113653600-113673000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:113653800-113665400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links