Variant report

Variant	esv3351224
Chromosome Location	chr3:142946938-142947387
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	chr3:142945884..142947891-chr3:142949125..142952561,4	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535936105	chr3:142946947-142946948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535819065	chr3:142946955-142946956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554560889	chr3:142946989-142946990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79529373	chr3:142946996-142946997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs398082511	chr3:142946997-142946998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs62279673	chr3:142947027-142947028	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs375421594	chr3:142947070-142947071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534546537	chr3:142947077-142947078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374982921	chr3:142947083-142947084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs193013772	chr3:142947114-142947115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544798205	chr3:142947121-142947122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs67665960	chr3:142947131-142947132	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs62279674	chr3:142947199-142947200	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs541911656	chr3:142947212-142947213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560579706	chr3:142947213-142947214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs367952895	chr3:142947216-142947217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184549268	chr3:142947242-142947243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530957529	chr3:142947254-142947255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs113396657	chr3:142947303-142947304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112079395	chr3:142947317-142947318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77236995	chr3:142947331-142947332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs398082512	chr3:142947332-142947333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147083194	chr3:142947350-142947351	Weak transcription Enhancers	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
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Cancer	20164919	CNVD
Gastric cancer	22014070	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142937600-142947600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr3:142939400-142955000	Weak transcription	Primary T cells from cord blood	blood
3	chr3:142940600-142947200	Weak transcription	Fetal Thymus	thymus
4	chr3:142941600-142956400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:142942200-142947200	Weak transcription	K562	blood
6	chr3:142944000-142955200	Weak transcription	Fetal Lung	lung
7	chr3:142946000-142947400	Weak transcription	Dnd41	blood
8	chr3:142947200-142948000	Enhancers	Fetal Thymus	thymus
9	chr3:142947200-142948000	Enhancers	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links