Variant report

Variant	esv2490314
Chromosome Location	chr3:134673390-134675383
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	chr3:134667860..134670173-chr3:134674253..134676895,2	K562	blood:

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	rs9825380	chr3:134673394-134673395	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs562732613	chr3:134673428-134673429	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531524471	chr3:134673434-134673435	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551680187	chr3:134673455-134673456	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs56287528	chr3:134673465-134673466	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs549296538	chr3:134673505-134673506	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184193539	chr3:134673550-134673551	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11917721	chr3:134673553-134673554	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs140891133	chr3:134673554-134673555	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537543045	chr3:134673571-134673572	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557387618	chr3:134673589-134673590	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536407239	chr3:134673597-134673598	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556352890	chr3:134673639-134673640	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569988191	chr3:134673641-134673642	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370041526	chr3:134673655-134673656	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189004235	chr3:134673661-134673662	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146071030	chr3:134673672-134673673	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572339978	chr3:134673675-134673676	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541464498	chr3:134673676-134673677	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138670564	chr3:134673715-134673716	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574997718	chr3:134673795-134673796	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542810894	chr3:134673806-134673807	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562648909	chr3:134673810-134673811	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs57121218	chr3:134673824-134673825	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs544962650	chr3:134673826-134673827	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs11925469	chr3:134673827-134673828	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs376050922	chr3:134673835-134673836	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs187063400	chr3:134673857-134673858	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs370695983	chr3:134673892-134673893	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs578032569	chr3:134673913-134673914	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs201228791	chr3:134673945-134673946	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs369468288	chr3:134673946-134673947	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs12637263	chr3:134673947-134673948	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs12634737	chr3:134673953-134673954	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs12634738	chr3:134673954-134673955	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192259	chr3:134674092-134674093	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185256	chr3:134674099-134674100	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs42315	chr3:134674105-134674106	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs546998689	chr3:134674185-134674186	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566987959	chr3:134674211-134674212	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529759330	chr3:134674216-134674217	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs374398344	chr3:134674217-134674218	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368466828	chr3:134674240-134674241	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533514794	chr3:134674271-134674272	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549495377	chr3:134674318-134674319	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs553663488	chr3:134674360-134674361	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs570135499	chr3:134674363-134674364	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs151169884	chr3:134674555-134674556	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539262234	chr3:134674802-134674803	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs558983456	chr3:134674856-134674857	Weak transcription Strong transcription Enhancers	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
Cancer	21129771	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
Multiple myeloma	17550852	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
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134665000-134676800	Weak transcription	Psoas Muscle	Psoas
2	chr3:134670600-134674200	Weak transcription	Brain Angular Gyrus	brain
3	chr3:134671000-134674800	Weak transcription	Brain Hippocampus Middle	brain
4	chr3:134671000-134674800	Weak transcription	Right Ventricle	heart
5	chr3:134671000-134675000	Weak transcription	Fetal Muscle Leg	muscle
6	chr3:134671000-134676600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr3:134671000-134677600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:134671000-134677600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr3:134671000-134679400	Weak transcription	Spleen	Spleen
10	chr3:134671000-134682800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr3:134671000-134684600	Weak transcription	Brain Germinal Matrix	brain
12	chr3:134671000-134693400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr3:134671000-134697400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr3:134671400-134684400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr3:134672400-134676800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr3:134672400-134677000	Weak transcription	Brain Anterior Caudate	brain
17	chr3:134673000-134675200	Enhancers	GM12878-XiMat	blood
18	chr3:134673200-134673800	ZNF genes & repeats	Brain Cingulate Gyrus	brain
19	chr3:134673200-134674800	Weak transcription	Fetal Brain Female	brain
20	chr3:134673800-134684600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr3:134674800-134675000	Enhancers	Brain Hippocampus Middle	brain
22	chr3:134674800-134675200	Enhancers	Fetal Brain Female	brain
23	chr3:134674800-134675400	Enhancers	Left Ventricle	heart
24	chr3:134674800-134675400	Enhancers	Right Ventricle	heart
25	chr3:134675200-134675600	Flanking Active TSS	GM12878-XiMat	blood
26	chr3:134675200-134684600	Weak transcription	Fetal Brain Female	brain

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