Variant report

Variant	esv3349560
Chromosome Location	chr3:141475312-141479210
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:141462837..141465084-chr3:141474852..141476857,2	K562	blood:
2	chr3:141466931..141469705-chr3:141473220..141475379,2	MCF-7	breast:
3	chr3:141471051..141472664-chr3:141475922..141477428,2	K562	blood:

Variant related genes	Relation type
ENSG00000114125	chromatin interactions

Extended variants
information (count: 68 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576209423	chr3:141475346-141475347	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs544006737	chr3:141475359-141475360	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs115334791	chr3:141475365-141475366	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs11927353	chr3:141475400-141475401	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs190741103	chr3:141475438-141475439	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs570982988	chr3:141475471-141475472	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs183028718	chr3:141475491-141475492	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs533351514	chr3:141475502-141475503	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs73872310	chr3:141475515-141475516	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs528542779	chr3:141475520-141475521	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs143426733	chr3:141475527-141475528	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs541855327	chr3:141475546-141475547	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs189216993	chr3:141475551-141475552	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs7643689	chr3:141475688-141475689	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs7632069	chr3:141475721-141475722	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs11923877	chr3:141475724-141475725	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs570616678	chr3:141475725-141475726	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs535312364	chr3:141475786-141475787	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs554025310	chr3:141475810-141475811	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs565848430	chr3:141475850-141475851	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs539375586	chr3:141475949-141475950	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs533195962	chr3:141475957-141475958	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs576169059	chr3:141475959-141475960	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs139713861	chr3:141475971-141475972	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs10718841	chr3:141475972-141475973	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs58676887	chr3:141475981-141475982	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs398052320	chr3:141475988-141475989	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs200302343	chr3:141475989-141475990	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs543526190	chr3:141476000-141476001	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs59508102	chr3:141476040-141476041	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs555526419	chr3:141476057-141476058	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs574278704	chr3:141476075-141476076	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs541303249	chr3:141476080-141476081	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs13094006	chr3:141476081-141476082	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs533459033	chr3:141476097-141476098	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs13094016	chr3:141476098-141476099	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs545357055	chr3:141476104-141476105	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs13093732	chr3:141476108-141476109	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs182938040	chr3:141476143-141476144	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs187490450	chr3:141476144-141476145	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs367741746	chr3:141476241-141476242	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs549062774	chr3:141476357-141476358	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs56791202	chr3:141476394-141476395	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs201781113	chr3:141476396-141476397	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs567461961	chr3:141476401-141476402	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs199678225	chr3:141476499-141476500	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs200276373	chr3:141476705-141476706	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs201108307	chr3:141476709-141476710	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs575593848	chr3:141476719-141476720	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs566631298	chr3:141476866-141476867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
T-cell prolymphocytic leukemia	17713554	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
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21785460	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141461800-141498200	Weak transcription	Right Ventricle	heart
2	chr3:141465000-141481400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:141466200-141475800	Weak transcription	Psoas Muscle	Psoas
4	chr3:141467000-141477000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr3:141467000-141481600	Weak transcription	Lung	lung
6	chr3:141467000-141483400	Weak transcription	Fetal Lung	lung
7	chr3:141467200-141475800	Weak transcription	Primary T cells from cord blood	blood
8	chr3:141467400-141476000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr3:141470000-141481400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr3:141470000-141481600	Weak transcription	Placenta	Placenta
11	chr3:141470000-141482600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr3:141470000-141483400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr3:141470000-141483400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr3:141470000-141483400	Weak transcription	Fetal Stomach	stomach
15	chr3:141470000-141483600	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr3:141470000-141486400	Weak transcription	Brain Hippocampus Middle	brain
17	chr3:141470400-141482200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr3:141470800-141483400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:141471200-141475600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr3:141471600-141483600	Weak transcription	Fetal Thymus	thymus
21	chr3:141471800-141483600	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr3:141472000-141500800	Weak transcription	Thymus	Thymus
23	chr3:141472600-141484800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr3:141475600-141475800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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