Variant report

Variant	esv3448420
Chromosome Location	chr3:142481912-142484060
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80062880	chr3:142482023-142482024	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs139904706	chr3:142482038-142482039	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143379677	chr3:142482077-142482078	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528983439	chr3:142482097-142482098	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547329222	chr3:142482133-142482134	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559102017	chr3:142482198-142482199	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7646197	chr3:142482251-142482252	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs551637244	chr3:142482290-142482291	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181998069	chr3:142482293-142482294	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7623977	chr3:142482337-142482338	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs34022315	chr3:142482341-142482342	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187270212	chr3:142482373-142482374	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560867727	chr3:142482395-142482396	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369400269	chr3:142482435-142482436	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7648475	chr3:142482473-142482474	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs146743865	chr3:142482517-142482518	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534821156	chr3:142482595-142482596	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528401933	chr3:142482628-142482629	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556082441	chr3:142482722-142482723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192175186	chr3:142482746-142482747	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573625524	chr3:142482778-142482779	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371837304	chr3:142482802-142482803	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376477093	chr3:142482804-142482805	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575104170	chr3:142482821-142482822	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs71153989	chr3:142482826-142482827	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs57709436	chr3:142482827-142482828	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs57925090	chr3:142482833-142482834	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs55716836	chr3:142482837-142482838	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs61484458	chr3:142482841-142482842	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs57131574	chr3:142482858-142482859	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558074129	chr3:142482860-142482861	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185926719	chr3:142482901-142482902	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs59004681	chr3:142482922-142482923	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576450715	chr3:142482945-142482946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113758308	chr3:142482982-142482983	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs57139089	chr3:142483026-142483027	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs555610038	chr3:142483027-142483028	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs28658009	chr3:142483030-142483031	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs540790814	chr3:142483111-142483112	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs72988639	chr3:142483116-142483117	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs532777715	chr3:142483135-142483136	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190400787	chr3:142483190-142483191	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs60752859	chr3:142483199-142483200	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs6781249	chr3:142483285-142483286	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs549130038	chr3:142483293-142483294	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs80123857	chr3:142483396-142483397	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528709922	chr3:142483401-142483402	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9821846	chr3:142483462-142483463	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546761094	chr3:142483471-142483472	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555267242	chr3:142483483-142483484	Weak transcription Enhancers Strong transcription	n/a	n/a	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:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142452800-142489000	Weak transcription	Aorta	Aorta
2	chr3:142458000-142482800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:142464800-142493200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr3:142466000-142488400	Weak transcription	Brain Hippocampus Middle	brain
5	chr3:142467800-142503400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:142468000-142486800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr3:142468200-142486800	Weak transcription	Brain Anterior Caudate	brain
8	chr3:142468200-142487600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr3:142468200-142489800	Weak transcription	Ovary	ovary
10	chr3:142468200-142511000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr3:142468200-142525200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr3:142468400-142483000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:142468400-142483200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr3:142468400-142484000	Weak transcription	Fetal Lung	lung
15	chr3:142468400-142488200	Weak transcription	A549	lung
16	chr3:142468400-142489800	Weak transcription	NH-A	brain
17	chr3:142468400-142498000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr3:142468400-142501400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr3:142468400-142501400	Weak transcription	HSMM	muscle
20	chr3:142468400-142501600	Weak transcription	Left Ventricle	heart
21	chr3:142468400-142508800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr3:142468400-142525200	Weak transcription	Fetal Brain Male	brain
23	chr3:142468400-142526800	Weak transcription	NHDF-Ad	bronchial
24	chr3:142468400-142529400	Weak transcription	Brain Germinal Matrix	brain
25	chr3:142468600-142484000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr3:142468600-142525200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr3:142468800-142492000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr3:142468800-142513200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr3:142469200-142491200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr3:142469600-142483200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr3:142469800-142485600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr3:142470200-142483600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:142470600-142486800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr3:142470600-142505800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr3:142472400-142509800	Weak transcription	HepG2	liver
36	chr3:142475000-142527200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr3:142475200-142498200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr3:142477400-142483400	Weak transcription	Adipose Nuclei	Adipose
39	chr3:142477600-142483800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr3:142479400-142486600	Weak transcription	Fetal Brain Female	brain
41	chr3:142479400-142488200	Weak transcription	Fetal Muscle Leg	muscle
42	chr3:142480000-142482400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr3:142480800-142482200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr3:142481000-142483800	Weak transcription	Fetal Kidney	kidney
45	chr3:142481200-142483600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr3:142481600-142501400	Weak transcription	Fetal Stomach	stomach
47	chr3:142481800-142484600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr3:142482200-142483000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr3:142482400-142482600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr3:142482600-142483200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links