Variant report

Variant	esv3330234
Chromosome Location	chr1:150278729-150279516
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	chr1:150277059..150279292-chr1:150282914..150285581,2	MCF-7	breast:
2	chr1:150207006..150210837-chr1:150278818..150282329,4	K562	blood:
3	chr1:150277809..150280750-chr1:150280887..150284512,5	MCF-7	breast:
4	chr1:150274327..150277106-chr1:150277953..150280795,3	MCF-7	breast:
5	chr1:150265474..150267107-chr1:150276871..150279433,3	K562	blood:
6	chr1:150278389..150282847-chr1:150283381..150286594,4	K562	blood:
7	chr1:150273449..150279043-chr1:150279801..150282340,7	MCF-7	breast:
8	chr1:150274556..150276296-chr1:150279435..150281772,2	K562	blood:
9	chr1:150270358..150272850-chr1:150276338..150279284,2	K562	blood:
10	chr1:150272468..150277468-chr1:150279289..150286428,7	K562	blood:
11	chr1:150253722..150255398-chr1:150277139..150279964,2	MCF-7	breast:
12	chr1:150274446..150278949-chr1:150292354..150296326,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000187145	chromatin interactions
ENSG00000117360	chromatin interactions
ENSG00000222222	chromatin interactions
ENSG00000143401	chromatin interactions
ENSG00000159208	chromatin interactions

Extended variants
information (count: 33 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10623734	chr1:150278741-150278742	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs33921627	chr1:150278742-150278743	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs369888090	chr1:150278743-150278744	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs55851834	chr1:150278744-150278745	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs75267820	chr1:150278745-150278746	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs587711334	chr1:150278799-150278800	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs76638507	chr1:150278800-150278801	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs192859560	chr1:150278806-150278807	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs140505471	chr1:150278819-150278820	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs7542510	chr1:150278823-150278824	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs587761150	chr1:150278850-150278851	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs185817864	chr1:150278897-150278898	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs1694375	chr1:150278908-150278909	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs587748531	chr1:150278960-150278961	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs189524293	chr1:150278987-150278988	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs587708056	chr1:150278993-150278994	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs587611079	chr1:150279052-150279053	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs374686290	chr1:150279058-150279059	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs587665491	chr1:150279060-150279061	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs181829049	chr1:150279077-150279078	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs11205360	chr1:150279087-150279088	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs149321864	chr1:150279092-150279093	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs587737112	chr1:150279141-150279142	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs185317514	chr1:150279180-150279181	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs369359954	chr1:150279183-150279184	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs373311922	chr1:150279189-150279190	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs188115124	chr1:150279251-150279252	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs181559540	chr1:150279272-150279273	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs16835911	chr1:150279333-150279334	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs587617732	chr1:150279426-150279427	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs186346476	chr1:150279465-150279466	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs117776806	chr1:150279470-150279471	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs34041802	chr1:150279482-150279483	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	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	19286668	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

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150267000-150280000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr1:150267000-150280000	Weak transcription	Small Intestine	intestine
3	chr1:150267000-150284000	Weak transcription	Brain Substantia Nigra	brain
4	chr1:150267000-150293200	Weak transcription	Stomach Mucosa	stomach
5	chr1:150267200-150280000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:150267200-150280000	Weak transcription	Esophagus	oesophagus
7	chr1:150267200-150286400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr1:150267800-150280800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:150267800-150281400	Strong transcription	Liver	Liver
10	chr1:150267800-150282000	Strong transcription	Fetal Muscle Trunk	muscle
11	chr1:150268000-150281000	Strong transcription	Fetal Muscle Leg	muscle
12	chr1:150268000-150281400	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr1:150268000-150282600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:150268000-150293200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:150268200-150278800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:150268200-150279800	Weak transcription	Pancreas	Pancrea
17	chr1:150268200-150282600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:150268200-150282600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr1:150268200-150282800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:150268200-150282800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:150268200-150282800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:150268600-150281000	Weak transcription	Fetal Brain Male	brain
23	chr1:150269000-150281400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:150269000-150282800	Strong transcription	Fetal Thymus	thymus
25	chr1:150269400-150282800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:150271600-150284000	Weak transcription	Colonic Mucosa	Colon
27	chr1:150272600-150282800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:150273400-150278800	Strong transcription	Primary B cells from cord blood	blood
29	chr1:150273600-150280800	Strong transcription	Thymus	Thymus
30	chr1:150274000-150282800	Strong transcription	Fetal Brain Female	brain
31	chr1:150274400-150281000	Strong transcription	Primary T cells from cord blood	blood
32	chr1:150274800-150279800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr1:150274800-150282800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:150274800-150284600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr1:150275000-150280000	Weak transcription	Ovary	ovary
36	chr1:150275000-150280000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr1:150275000-150280200	Weak transcription	Brain Hippocampus Middle	brain
38	chr1:150275000-150286400	Weak transcription	HepG2	liver
39	chr1:150275200-150279600	Weak transcription	Lung	lung
40	chr1:150275200-150279800	Weak transcription	Left Ventricle	heart
41	chr1:150275200-150280000	Weak transcription	Gastric	stomach
42	chr1:150275200-150280000	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr1:150275200-150280400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr1:150275200-150281600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:150275200-150282800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:150275400-150279200	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr1:150275400-150279800	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr1:150275400-150280000	Weak transcription	HSMMtube	muscle
49	chr1:150275400-150280200	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr1:150275400-150280400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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