Variant report

Variant	esv3399264
Chromosome Location	chr1:150512378-150515976
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	chr1:150509381..150511222-chr1:150513686..150516609,2	MCF-7	breast:
2	chr1:150509650..150512738-chr1:150519728..150523088,3	MCF-7	breast:
3	chr1:150502838..150505562-chr1:150511108..150512922,2	K562	blood:
4	chr1:150498015..150500360-chr1:150515129..150517476,2	K562	blood:
5	chr1:150501793..150504711-chr1:150513660..150516290,3	K562	blood:
6	chr1:150513813..150518269-chr1:150520912..150524275,6	MCF-7	breast:
7	chr1:150509600..150512584-chr1:150516373..150518037,3	K562	blood:
8	chr1:150484156..150491994-chr1:150515065..150519964,11	K562	blood:
9	chr1:150510592..150512874-chr1:150550671..150552191,2	MCF-7	breast:
10	chr1:150501793..150504711-chr1:150513734..150516290,2	K562	blood:
11	chr1:150515888..150518582-chr1:150592348..150594421,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000225996	chromatin interactions
ENSG00000143384	chromatin interactions
ENSG00000143382	chromatin interactions
ENSG00000228126	chromatin interactions

Extended variants
information (count: 149 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370100180	chr1:150512417-150512418	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs373060618	chr1:150512486-150512487	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs151331691	chr1:150512500-150512501	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs113085079	chr1:150512512-150512513	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs183307825	chr1:150512528-150512529	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs587683699	chr1:150512532-150512533	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs587741026	chr1:150512652-150512653	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs587614025	chr1:150512654-150512655	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs146014405	chr1:150512658-150512659	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs375882757	chr1:150512672-150512673	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs115629983	chr1:150512678-150512679	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs201423429	chr1:150512709-150512710	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs377718107	chr1:150512716-150512717	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs376530169	chr1:150512731-150512732	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs199788218	chr1:150512732-150512733	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs369252381	chr1:150512733-150512734	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs145832453	chr1:150512775-150512776	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs138309741	chr1:150512792-150512793	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs587684118	chr1:150512878-150512879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187798673	chr1:150512923-150512924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142901932	chr1:150512981-150512982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs587744087	chr1:150513022-150513023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7364905	chr1:150513142-150513143	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs587674965	chr1:150513154-150513155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs587735683	chr1:150513176-150513177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113438487	chr1:150513186-150513187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7364641	chr1:150513230-150513231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs587610787	chr1:150513234-150513235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9436128	chr1:150513245-150513246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs587661529	chr1:150513247-150513248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7364921	chr1:150513329-150513330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184227926	chr1:150513354-150513355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189467685	chr1:150513359-150513360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35360531	chr1:150513394-150513395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12097402	chr1:150513409-150513410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs587739108	chr1:150513509-150513510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs587618125	chr1:150513512-150513513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7364668	chr1:150513534-150513535	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
39	rs587724117	chr1:150513540-150513541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs61819436	chr1:150513553-150513554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs61819437	chr1:150513559-150513560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs61819438	chr1:150513583-150513584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs587629822	chr1:150513611-150513612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs587682987	chr1:150513618-150513619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147416696	chr1:150513644-150513645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192415988	chr1:150513649-150513650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139665761	chr1:150513650-150513651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113290915	chr1:150513668-150513669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs587715996	chr1:150513674-150513675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs587714706	chr1:150513683-150513684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	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
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	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
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Cancer	23975201	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150505600-150516000	Weak transcription	Fetal Stomach	stomach
2	chr1:150505600-150516200	Weak transcription	Brain Hippocampus Middle	brain
3	chr1:150505600-150521000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:150505800-150516000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr1:150505800-150521000	Weak transcription	Brain Angular Gyrus	brain
6	chr1:150508800-150516000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:150508800-150516000	Weak transcription	Right Atrium	heart
8	chr1:150509000-150516400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:150509800-150516000	Weak transcription	NHLF	lung
10	chr1:150510600-150516000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:150510800-150512600	Weak transcription	K562	blood
12	chr1:150511000-150518200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr1:150511200-150515000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:150511200-150515200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr1:150511200-150516000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:150511200-150516000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr1:150511200-150516400	Weak transcription	Adipose Nuclei	Adipose
18	chr1:150511200-150521000	Weak transcription	A549	lung
19	chr1:150511400-150516000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:150511400-150516000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:150511400-150516200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:150511400-150520800	Weak transcription	Hela-S3	cervix
23	chr1:150511400-150521000	Weak transcription	NHDF-Ad	bronchial
24	chr1:150511600-150514800	Weak transcription	HepG2	liver
25	chr1:150511600-150516000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:150511600-150516000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr1:150511600-150516000	Weak transcription	Fetal Muscle Leg	muscle
28	chr1:150511600-150516000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr1:150511600-150516000	Weak transcription	HSMM	muscle
30	chr1:150511600-150516000	Weak transcription	HSMMtube	muscle
31	chr1:150511600-150516200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:150511600-150516200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:150511600-150521200	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr1:150511800-150516000	Weak transcription	Esophagus	oesophagus
35	chr1:150511800-150518000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr1:150512000-150516000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr1:150512000-150517600	Weak transcription	Placenta	Placenta
38	chr1:150512600-150513000	Enhancers	K562	blood
39	chr1:150513000-150516000	Weak transcription	K562	blood
40	chr1:150514800-150515400	Enhancers	HepG2	liver
41	chr1:150515000-150515200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:150515200-150515400	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr1:150515200-150521000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:150515400-150515800	Weak transcription	HepG2	liver
45	chr1:150515800-150516200	Enhancers	HepG2	liver

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