Variant report

Variant	esv3382003
Chromosome Location	chr3:143860818-143861002
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	chr3:143852522..143854486-chr3:143858842..143860873,2	K562	blood:
2	chr3:143852522..143855348-chr3:143858842..143861138,3	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7615861	chr3:143860822-143860823	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs534629993	chr3:143860839-143860840	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs144046673	chr3:143860855-143860856	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs538262041	chr3:143860871-143860872	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs138301010	chr3:143860872-143860873	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs182993104	chr3:143860890-143860891	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs555242320	chr3:143860892-143860893	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs375991071	chr3:143860919-143860920	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs566386932	chr3:143860926-143860927	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs13074115	chr3:143860979-143860980	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs76002149	chr3:143860982-143860983	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs201281395	chr3:143860983-143860984	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	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
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
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
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Adrenocortical carcinoma	18281524	CNVD
Breast cancer	21509527	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143847600-143861200	Weak transcription	Brain Anterior Caudate	brain
2	chr3:143856400-143861000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr3:143860400-143861000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr3:143860400-143861200	Enhancers	Fetal Thymus	thymus
5	chr3:143860600-143861000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr3:143860600-143861000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr3:143860600-143861000	Enhancers	Fetal Intestine Large	intestine
8	chr3:143860600-143861000	Enhancers	Stomach Smooth Muscle	stomach
9	chr3:143860600-143861000	Enhancers	Osteobl	bone
10	chr3:143860600-143861200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:143860600-143861200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:143860600-143861200	Enhancers	HSMM	muscle
13	chr3:143860600-143861200	Enhancers	NHEK	skin
14	chr3:143860600-143861400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr3:143860600-143861400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr3:143860600-143861400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr3:143860600-143861400	Enhancers	Esophagus	oesophagus
18	chr3:143860600-143861600	Enhancers	NHLF	lung
19	chr3:143860600-143861800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr3:143860600-143862000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr3:143860800-143861000	Enhancers	Aorta	Aorta
22	chr3:143860800-143861200	Enhancers	Ovary	ovary
23	chr3:143860800-143861200	Enhancers	Rectal Smooth Muscle	rectum
24	chr3:143860800-143861200	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr3:143860800-143861400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr3:143860800-143861400	Enhancers	Fetal Muscle Leg	muscle
27	chr3:143860800-143861400	Enhancers	Fetal Stomach	stomach
28	chr3:143860800-143861600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr3:143860800-143861800	Flanking Active TSS	Colon Smooth Muscle	Colon
30	chr3:143860800-143862000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr3:143860800-143862000	Enhancers	Fetal Intestine Small	intestine
32	chr3:143861000-143861200	Flanking Active TSS	Aorta	Aorta
33	chr3:143861000-143861400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr3:143861000-143861400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr3:143861000-143861400	Enhancers	Fetal Muscle Trunk	muscle
36	chr3:143861000-143861400	Enhancers	Right Atrium	heart
37	chr3:143861000-143861400	Flanking Active TSS	Stomach Smooth Muscle	stomach
38	chr3:143861000-143861800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr3:143861000-143861800	Enhancers	Brain Cingulate Gyrus	brain
40	chr3:143861000-143861800	Enhancers	Brain Hippocampus Middle	brain
41	chr3:143861000-143861800	Enhancers	Fetal Lung	lung
42	chr3:143861000-143861800	Flanking Active TSS	Osteobl	bone
43	chr3:143861000-143862000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr3:143861000-143862000	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr3:143861000-143862000	Enhancers	Brain Angular Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links