Variant report

Variant	esv3411253
Chromosome Location	chr12:705718-706073
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:694898..698250-chr12:705917..708971,3	MCF-7	breast:
2	chr12:704292..707199-chr12:716391..718177,2	K562	blood:
3	chr12:705699..707889-chr12:716677..719409,2	K562	blood:

Variant related genes	Relation type
ENSG00000256020	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553319833	chr12:705731-705732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs2535388	chr12:705734-705735	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs4300439	chr12:705787-705788	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs142540795	chr12:705802-705803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376353322	chr12:705816-705817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs386759372	chr12:705859-705860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs4597121	chr12:705860-705861	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs34569155	chr12:705864-705865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs4485166	chr12:705887-705888	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs4485167	chr12:705902-705903	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs577974466	chr12:705950-705951	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs146752717	chr12:705951-705952	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs56005408	chr12:705955-705956	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs376103757	chr12:705986-705987	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs34298594	chr12:705988-705989	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs553954229	chr12:706013-706014	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glaucoma	21310917	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Squamous cell cancer	19607727	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Mental retardation	17847001	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Ovarian cancer	21720365	CNVD
Myelodysplastic syndrome	21251322	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pleomorphic liposarcoma	18784837	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:686200-716200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr12:696600-715800	Weak transcription	Thymus	Thymus
3	chr12:700600-711400	Weak transcription	A549	lung
4	chr12:700800-707200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:701200-707000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:701400-706800	Weak transcription	Adipose Nuclei	Adipose
7	chr12:701400-706800	Weak transcription	NHEK	skin
8	chr12:701400-707000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:701400-715800	Weak transcription	Brain Substantia Nigra	brain
10	chr12:701400-715800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr12:701400-715800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr12:701400-716800	Weak transcription	Brain Anterior Caudate	brain
13	chr12:701600-706800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:701600-706800	Weak transcription	Psoas Muscle	Psoas
15	chr12:701600-706800	Weak transcription	Right Ventricle	heart
16	chr12:701600-707000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr12:701600-716000	Weak transcription	Brain Hippocampus Middle	brain
18	chr12:702800-706200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr12:703000-706800	Weak transcription	Esophagus	oesophagus
20	chr12:703000-706800	Weak transcription	Left Ventricle	heart
21	chr12:703000-706800	Weak transcription	Right Atrium	heart
22	chr12:703200-705800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr12:703400-706000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:703800-719000	Weak transcription	Primary B cells from cord blood	blood
25	chr12:704400-707200	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr12:704600-707000	Weak transcription	Fetal Heart	heart
27	chr12:704600-707200	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr12:704800-707400	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr12:704800-709600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr12:705200-706000	Enhancers	K562	blood
31	chr12:705400-706600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:705600-706200	Weak transcription	HMEC	breast
33	chr12:705800-708200	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr12:706000-707200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr12:706000-707200	Weak transcription	K562	blood

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