Variant report

Variant	esv2427260
Chromosome Location	chr1:150618634-150620148
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150617651..150620563-chr1:150622833..150625095,2	K562	blood:
2	chr1:150597525..150603914-chr1:150613760..150620502,7	MCF-7	breast:
3	chr1:150609201..150612049-chr1:150619557..150622336,2	MCF-7	breast:
4	chr1:150595731..150598614-chr1:150616127..150619225,3	K562	blood:
5	chr1:150613590..150615914-chr1:150618065..150619997,3	MCF-7	breast:
6	chr1:150593246..150595574-chr1:150619847..150621910,2	MCF-7	breast:
7	chr1:150602761..150604761-chr1:150618641..150620910,2	MCF-7	breast:
8	chr1:150551148..150553781-chr1:150617340..150620166,2	MCF-7	breast:
9	chr1:150617291..150619011-chr1:150620335..150622821,2	K562	blood:
10	chr1:150595731..150598614-chr1:150617206..150619225,2	K562	blood:
11	chr1:150612764..150614298-chr1:150620099..150621750,2	MCF-7	breast:
12	chr1:150613621..150615640-chr1:150617612..150620066,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143384	chromatin interactions
ENSG00000143420	chromatin interactions

Extended variants
information (count: 32 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144693115	chr1:150618635-150618636	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs3768009	chr1:150618807-150618808	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs587644883	chr1:150618812-150618813	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs3768008	chr1:150618839-150618840	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs587606486	chr1:150618896-150618897	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs587629194	chr1:150618923-150618924	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs9733	chr1:150618961-150618962	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs138562827	chr1:150618992-150618993	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs189793739	chr1:150619072-150619073	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs587727812	chr1:150619080-150619081	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs587625258	chr1:150619086-150619087	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs111779351	chr1:150619175-150619176	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs11542551	chr1:150619176-150619177	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs587686776	chr1:150619278-150619279	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs587766479	chr1:150619301-150619302	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs140239512	chr1:150619352-150619353	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs181850438	chr1:150619439-150619440	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs587737183	chr1:150619471-150619472	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs186962808	chr1:150619509-150619510	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs587691655	chr1:150619585-150619586	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs1877469	chr1:150619602-150619603	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs145191213	chr1:150619637-150619638	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs147980386	chr1:150619649-150619650	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs587756635	chr1:150619781-150619782	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs587640503	chr1:150619841-150619842	Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs75587166	chr1:150619860-150619861	Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs587714009	chr1:150619887-150619888	Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs58216214	chr1:150619970-150619971	Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs55938461	chr1:150619971-150619972	Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs587748117	chr1:150620042-150620043	Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs142029366	chr1:150620085-150620086	Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs369612605	chr1:150620106-150620107	Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150603000-150619000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:150603000-150619600	Weak transcription	Small Intestine	intestine
3	chr1:150603200-150619600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:150603200-150619600	Weak transcription	Fetal Intestine Small	intestine
5	chr1:150603200-150619600	Weak transcription	Fetal Stomach	stomach
6	chr1:150603200-150619800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:150603200-150620000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:150603200-150620000	Weak transcription	Gastric	stomach
9	chr1:150603200-150620000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:150603200-150620600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr1:150603200-150620600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:150603200-150661200	Weak transcription	Brain Substantia Nigra	brain
13	chr1:150603400-150618800	Weak transcription	Osteobl	bone
14	chr1:150603400-150619000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr1:150603400-150620000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr1:150603400-150620400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:150603400-150620600	Weak transcription	Right Ventricle	heart
18	chr1:150603400-150620600	Weak transcription	A549	lung
19	chr1:150603400-150620800	Weak transcription	Spleen	Spleen
20	chr1:150603400-150621600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:150603400-150621600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:150603400-150668200	Weak transcription	Brain Germinal Matrix	brain
23	chr1:150603600-150619800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:150603800-150619400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr1:150604200-150619600	Weak transcription	Left Ventricle	heart
26	chr1:150604200-150620400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr1:150607400-150620600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:150608000-150619600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:150608200-150619200	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr1:150608600-150619400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr1:150608600-150619400	Weak transcription	Stomach Mucosa	stomach
32	chr1:150608600-150619600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:150608600-150620600	Weak transcription	Hela-S3	cervix
34	chr1:150608600-150668600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr1:150609200-150620200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr1:150611200-150620800	Weak transcription	Pancreas	Pancrea
37	chr1:150612600-150619600	Weak transcription	Brain Hippocampus Middle	brain
38	chr1:150612600-150634400	Weak transcription	Psoas Muscle	Psoas
39	chr1:150613000-150619400	Weak transcription	Colon Smooth Muscle	Colon
40	chr1:150613400-150619600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:150614000-150619600	Weak transcription	Thymus	Thymus
42	chr1:150614000-150619800	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr1:150614000-150620000	Weak transcription	K562	blood
44	chr1:150614200-150618800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr1:150614400-150620000	Weak transcription	HepG2	liver
46	chr1:150614400-150620400	Weak transcription	HSMM	muscle
47	chr1:150614600-150620600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr1:150614800-150619600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr1:150615000-150619200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr1:150615000-150619800	Weak transcription	Esophagus	oesophagus

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