Variant report

Variant	esv3333244
Chromosome Location	chr3:142491897-142492317
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:142313784..142316353-chr3:142491833..142494819,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120756	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73232704	chr3:142491956-142491957	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186783548	chr3:142491981-142491982	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs113027791	chr3:142491983-142491984	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs191355176	chr3:142491993-142491994	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs545267008	chr3:142491999-142492000	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs182111851	chr3:142492072-142492073	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs141667688	chr3:142492078-142492079	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs187030113	chr3:142492086-142492087	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs549554483	chr3:142492097-142492098	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs561218582	chr3:142492098-142492099	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs192835638	chr3:142492140-142492141	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs185336176	chr3:142492239-142492240	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs533753226	chr3:142492253-142492254	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs571641497	chr3:142492277-142492278	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs539051762	chr3:142492280-142492281	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Breast cancer	21364760	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142464800-142493200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:142467800-142503400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:142468200-142511000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr3:142468200-142525200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr3:142468400-142498000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr3:142468400-142501400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr3:142468400-142501400	Weak transcription	HSMM	muscle
8	chr3:142468400-142501600	Weak transcription	Left Ventricle	heart
9	chr3:142468400-142508800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr3:142468400-142525200	Weak transcription	Fetal Brain Male	brain
11	chr3:142468400-142526800	Weak transcription	NHDF-Ad	bronchial
12	chr3:142468400-142529400	Weak transcription	Brain Germinal Matrix	brain
13	chr3:142468600-142525200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr3:142468800-142492000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:142468800-142513200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr3:142470600-142505800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr3:142472400-142509800	Weak transcription	HepG2	liver
18	chr3:142475000-142527200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr3:142475200-142498200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr3:142481600-142501400	Weak transcription	Fetal Stomach	stomach
21	chr3:142484600-142506400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr3:142487000-142502400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr3:142487400-142501400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr3:142487400-142501400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr3:142487400-142513600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:142487600-142503400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr3:142487800-142506800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr3:142488800-142498200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr3:142488800-142505000	Weak transcription	Brain Hippocampus Middle	brain
30	chr3:142488800-142527000	Weak transcription	Brain Anterior Caudate	brain
31	chr3:142489200-142501400	Weak transcription	Aorta	Aorta
32	chr3:142489800-142501200	Weak transcription	Adipose Nuclei	Adipose
33	chr3:142490000-142497200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr3:142490000-142503600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:142490200-142529400	Weak transcription	Fetal Muscle Leg	muscle
36	chr3:142490400-142501600	Weak transcription	Ovary	ovary
37	chr3:142490400-142522800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr3:142490600-142492400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr3:142490800-142507400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr3:142491200-142493800	Weak transcription	HSMMtube	muscle
41	chr3:142491400-142501600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr3:142491400-142503200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr3:142491800-142492600	Strong transcription	Fetal Lung	lung

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