Variant report

Variant	nsv2454
Chromosome Location	chr1:112813849-112858259
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:112854823..112857842-chr1:112859971..112862806,3	K562	blood:
2	chr1:112841241..112841818-chr1:112912086..112912921,2	MCF-7	breast:
3	chr1:112852897..112854714-chr1:112912194..112914006,2	MCF-7	breast:
4	chr1:112840908..112843685-chr1:112848640..112850927,2	K562	blood:
5	chr1:112840908..112843685-chr1:112848640..112850927,2	K562	blood:
6	chr1:112847993..112849529-chr1:112859514..112861628,2	K562	blood:
7	chr1:112843774..112846504-chr1:112847388..112849530,2	K562	blood:
8	chr1:112853836..112856357-chr1:112857519..112861471,3	K562	blood:
9	chr1:112843774..112846504-chr1:112847388..112849530,2	K562	blood:
10	chr1:112840855..112841876-chr1:112879569..112880172,4	MCF-7	breast:
11	chr1:112841087..112842929-chr1:112901842..112903363,2	MCF-7	breast:
12	chr1:112840911..112841667-chr1:112879308..112880254,3	K562	blood:
13	chr1:112852032..112854522-chr1:112865891..112868181,2	K562	blood:
14	chr1:112821669..112823894-chr1:112828868..112830886,2	K562	blood:
15	chr1:112842175..112843742-chr1:112843892..112845725,2	K562	blood:
16	chr1:112821669..112823894-chr1:112828868..112830886,2	K562	blood:
17	chr1:112853836..112856357-chr1:112857519..112861471,3	K562	blood:
18	chr1:112842175..112843742-chr1:112843892..112845725,2	K562	blood:
19	chr1:112840899..112841842-chr1:112879297..112880319,11	MCF-7	breast:
20	chr1:112840939..112841965-chr1:112911561..112912931,5	K562	blood:
21	chr1:112840708..112841508-chr1:112911801..112912878,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000238761	chromatin interactions
ENSG00000231246	chromatin interactions

Extended variants
information (count: 859 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:859 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181069925	chr1:112813873-112813874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564970927	chr1:112813896-112813897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185914138	chr1:112813913-112813914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551274210	chr1:112813938-112813939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190379761	chr1:112814004-112814005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs3128370	chr1:112814012-112814013	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs181184486	chr1:112814022-112814023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567064616	chr1:112814036-112814037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149280120	chr1:112814103-112814104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11102447	chr1:112814132-112814133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185570776	chr1:112814133-112814134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537406614	chr1:112814138-112814139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554855009	chr1:112814139-112814140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541102994	chr1:112814160-112814161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34091387	chr1:112814172-112814173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574596343	chr1:112814242-112814243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540133406	chr1:112814247-112814248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113810188	chr1:112814399-112814400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138158177	chr1:112814450-112814451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs116345839	chr1:112814467-112814468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565200856	chr1:112814469-112814470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530943508	chr1:112814485-112814486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190677205	chr1:112814518-112814519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs7548387	chr1:112814527-112814528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143722034	chr1:112814571-112814572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149186991	chr1:112814594-112814595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530368982	chr1:112814601-112814602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147208426	chr1:112814605-112814606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577482199	chr1:112814648-112814649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs4294408	chr1:112814653-112814654	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs148692165	chr1:112814778-112814779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141401125	chr1:112814800-112814801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs182868405	chr1:112814853-112814854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs7546257	chr1:112814862-112814863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537849758	chr1:112814899-112814900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs74418243	chr1:112814900-112814901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs116110769	chr1:112814902-112814903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533869330	chr1:112814903-112814904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113817060	chr1:112814946-112814947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs200856694	chr1:112814954-112814955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576644298	chr1:112814999-112815000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11102448	chr1:112815069-112815070	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs2998334	chr1:112815101-112815102	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs35499773	chr1:112815115-112815116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs3005799	chr1:112815153-112815154	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs544685270	chr1:112815179-112815180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs2998335	chr1:112815181-112815182	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs2998336	chr1:112815246-112815247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189252523	chr1:112815254-112815255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs369420281	chr1:112815275-112815276	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:112808200-112815200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr1:112811400-112815200	Weak transcription	Right Atrium	heart
3	chr1:112813600-112815200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:112814200-112814400	Enhancers	Brain Hippocampus Middle	brain
5	chr1:112814200-112815800	Enhancers	GM12878-XiMat	blood
6	chr1:112814400-112814600	Enhancers	HSMMtube	muscle
7	chr1:112814400-112815000	Weak transcription	Brain Hippocampus Middle	brain
8	chr1:112815200-112815400	Enhancers	Brain Hippocampus Middle	brain
9	chr1:112815200-112815400	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr1:112815200-112815400	Enhancers	HSMMtube	muscle
11	chr1:112815200-112815600	Enhancers	Right Atrium	heart
12	chr1:112815200-112815800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:112817400-112818200	Enhancers	HSMMtube	muscle
14	chr1:112823600-112823800	Enhancers	Placenta	Placenta
15	chr1:112827400-112829000	Enhancers	Right Atrium	heart
16	chr1:112828200-112828800	Enhancers	Brain Germinal Matrix	brain
17	chr1:112828400-112828800	Enhancers	HSMMtube	muscle
18	chr1:112828600-112828800	Enhancers	Fetal Muscle Leg	muscle
19	chr1:112839600-112840600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr1:112839600-112840800	Enhancers	HSMM	muscle
21	chr1:112839800-112840400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:112839800-112840400	Enhancers	HSMMtube	muscle
23	chr1:112840200-112840800	Enhancers	NHEK	skin
24	chr1:112840200-112841000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:112840200-112841000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:112840400-112841200	Enhancers	Brain Germinal Matrix	brain
27	chr1:112840400-112841200	Enhancers	HMEC	breast
28	chr1:112840400-112841400	Weak transcription	HSMMtube	muscle
29	chr1:112841200-112841600	Bivalent Enhancer	Fetal Muscle Leg	muscle
30	chr1:112842000-112842200	Bivalent Enhancer	Fetal Stomach	stomach
31	chr1:112843800-112844200	Enhancers	Placenta	Placenta
32	chr1:112844200-112847000	Weak transcription	Placenta	Placenta
33	chr1:112845400-112845600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr1:112845800-112847200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:112846800-112847400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:112846800-112848600	Enhancers	Fetal Muscle Leg	muscle
37	chr1:112847000-112847600	Enhancers	Placenta	Placenta
38	chr1:112847000-112848000	Enhancers	Adipose Nuclei	Adipose
39	chr1:112847200-112847600	Enhancers	Right Atrium	heart
40	chr1:112847200-112848600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr1:112847400-112848400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:112847400-112854800	Weak transcription	Ovary	ovary
43	chr1:112848000-112850800	Weak transcription	Adipose Nuclei	Adipose
44	chr1:112848400-112848600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:112848600-112850600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr1:112850200-112851600	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr1:112850400-112852000	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr1:112850400-112852600	Enhancers	Fetal Muscle Leg	muscle
49	chr1:112850600-112851200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:112850600-112851400	Enhancers	H9 Cell Line	embryonic stem cell

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