Variant report

Variant	esv2066009
Chromosome Location	chr3:145862277-145862281
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	chr3:145860639..145862586-chr3:145877075..145878969,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152952	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 55 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs63302160	chr3:145862277-145862278	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs201122252	chr3:145862280-145862281	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
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
Basal cell lymphoma	21115979	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	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
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autism	21956041	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:145832000-145870800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr3:145835800-145874000	Weak transcription	Psoas Muscle	Psoas
3	chr3:145840400-145874000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr3:145850400-145864400	Weak transcription	HMEC	breast
5	chr3:145851600-145864200	Weak transcription	Right Atrium	heart
6	chr3:145856400-145864200	Weak transcription	Left Ventricle	heart
7	chr3:145856400-145875800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr3:145858800-145866400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr3:145860000-145863000	Genic enhancers	Osteobl	bone
10	chr3:145860400-145875600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:145860600-145868800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr3:145860800-145864200	Weak transcription	Gastric	stomach
13	chr3:145860800-145866000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr3:145860800-145866200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr3:145860800-145870000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr3:145860800-145873800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr3:145860800-145874000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr3:145860800-145874000	Weak transcription	Fetal Muscle Leg	muscle
19	chr3:145861000-145869000	Weak transcription	Fetal Intestine Large	intestine
20	chr3:145861000-145870200	Weak transcription	Brain Anterior Caudate	brain
21	chr3:145861000-145876400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr3:145861400-145865600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr3:145861400-145866000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr3:145861400-145866200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr3:145861400-145866400	Weak transcription	NHDF-Ad	bronchial
26	chr3:145861400-145870200	Weak transcription	Small Intestine	intestine
27	chr3:145861400-145870600	Weak transcription	NH-A	brain
28	chr3:145861600-145862800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr3:145861600-145863600	Enhancers	Colon Smooth Muscle	Colon
30	chr3:145861600-145864200	Weak transcription	HepG2	liver
31	chr3:145861600-145869000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr3:145861600-145870000	Weak transcription	Brain Hippocampus Middle	brain
33	chr3:145861800-145862600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr3:145861800-145862800	Weak transcription	A549	lung
35	chr3:145861800-145863600	Enhancers	Rectal Smooth Muscle	rectum
36	chr3:145861800-145864200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr3:145861800-145864200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr3:145861800-145864200	Weak transcription	Ovary	ovary
39	chr3:145861800-145864200	Weak transcription	Right Ventricle	heart
40	chr3:145861800-145864600	Enhancers	Stomach Smooth Muscle	stomach
41	chr3:145861800-145865200	Weak transcription	Fetal Intestine Small	intestine
42	chr3:145861800-145866600	Weak transcription	Aorta	Aorta
43	chr3:145861800-145866800	Weak transcription	Fetal Kidney	kidney
44	chr3:145861800-145867600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr3:145861800-145870200	Weak transcription	Brain Substantia Nigra	brain
46	chr3:145861800-145870400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr3:145861800-145870800	Weak transcription	Pancreas	Pancrea
48	chr3:145861800-145872200	Weak transcription	Adipose Nuclei	Adipose
49	chr3:145861800-145873800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr3:145861800-145873800	Weak transcription	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links