Variant report

Variant	esv3395179
Chromosome Location	chr3:143324870-143325400
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	chr3:143323713..143325272-chr3:143325591..143327740,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560842493	chr3:143324921-143324922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528055762	chr3:143324934-143324935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546612665	chr3:143324935-143324936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571249296	chr3:143324969-143324970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs56828926	chr3:143324992-143324993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574449398	chr3:143324997-143324998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532235620	chr3:143325001-143325002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12636582	chr3:143325024-143325025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369932873	chr3:143325029-143325030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568726878	chr3:143325033-143325034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536112153	chr3:143325057-143325058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554421334	chr3:143325103-143325104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112196224	chr3:143325115-143325116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4839647	chr3:143325148-143325149	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs184353583	chr3:143325169-143325170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs578000568	chr3:143325204-143325205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545529776	chr3:143325232-143325233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557556642	chr3:143325274-143325275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200350000	chr3:143325276-143325277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375395950	chr3:143325277-143325278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4839648	chr3:143325278-143325279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201127943	chr3:143325279-143325280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11925345	chr3:143325280-143325281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs71621109	chr3:143325290-143325291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77057944	chr3:143325294-143325295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs60773685	chr3:143325303-143325304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9825508	chr3:143325304-143325305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141629363	chr3:143325330-143325331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	20967226	CNVD
Autism	22495309	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143297600-143339000	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr3:143300400-143336800	Weak transcription	Primary T cells from cord blood	blood
3	chr3:143318600-143332600	Weak transcription	Brain Substantia Nigra	brain
4	chr3:143321000-143327800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:143322200-143331200	Weak transcription	HMEC	breast
6	chr3:143323200-143325000	Enhancers	Primary B cells from peripheral blood	blood
7	chr3:143324200-143340000	Weak transcription	Primary B cells from cord blood	blood
8	chr3:143324400-143327000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr3:143324400-143327000	Weak transcription	Ovary	ovary
10	chr3:143324400-143353800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr3:143324600-143325000	Enhancers	GM12878-XiMat	blood
12	chr3:143324600-143326200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr3:143324600-143327000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:143324600-143331400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr3:143324600-143331600	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr3:143324600-143336400	Weak transcription	Fetal Stomach	stomach
17	chr3:143324800-143327000	Weak transcription	HSMM	muscle

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