Variant report

Variant	nsv528307
Chromosome Location	chr3:134431174-134433766
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	chr3:134424329..134427073-chr3:134431593..134433303,2	K562	blood:
2	chr3:134415377..134418042-chr3:134431451..134433591,2	K562	blood:

Extended variants
information (count: 108 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4955475	chr3:134431174-134431175	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs61492762	chr3:134431235-134431236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs202237262	chr3:134431238-134431239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs4955476	chr3:134431256-134431257	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs142144543	chr3:134431257-134431258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533579752	chr3:134431260-134431261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549036076	chr3:134431300-134431301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552437518	chr3:134431357-134431358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs4955478	chr3:134431386-134431387	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs73222790	chr3:134431388-134431389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs4955479	chr3:134431409-134431410	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs573690617	chr3:134431426-134431427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs4955480	chr3:134431430-134431431	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs141050920	chr3:134431431-134431432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs35869487	chr3:134431438-134431439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75665903	chr3:134431509-134431510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185016189	chr3:134431525-134431526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371426058	chr3:134431541-134431542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545347725	chr3:134431559-134431560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571102603	chr3:134431565-134431566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs150876653	chr3:134431631-134431632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369303911	chr3:134431645-134431646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547440955	chr3:134431658-134431659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139430148	chr3:134431665-134431666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188256930	chr3:134431670-134431671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534911273	chr3:134431677-134431678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372926290	chr3:134431683-134431684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs67368005	chr3:134431738-134431739	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs35049040	chr3:134431781-134431782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549829324	chr3:134431794-134431795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571138406	chr3:134431803-134431804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369720076	chr3:134431886-134431887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532351629	chr3:134431940-134431941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181856114	chr3:134431962-134431963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566355237	chr3:134431967-134431968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373628290	chr3:134431991-134431992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548769238	chr3:134432019-134432020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187631468	chr3:134432027-134432028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536384824	chr3:134432052-134432053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs556269415	chr3:134432062-134432063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574118313	chr3:134432111-134432112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs149635760	chr3:134432214-134432215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs138795010	chr3:134432237-134432238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192003049	chr3:134432273-134432274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs542343862	chr3:134432298-134432299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558226378	chr3:134432302-134432303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs76345294	chr3:134432332-134432333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs376965150	chr3:134432346-134432347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540939957	chr3:134432379-134432380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554764893	chr3:134432394-134432395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Breast cancer	22522925	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134419800-134432200	Weak transcription	Esophagus	oesophagus
2	chr3:134427800-134433000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr3:134429400-134431600	Weak transcription	Psoas Muscle	Psoas
4	chr3:134429600-134431600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr3:134430400-134431600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr3:134430400-134431800	Weak transcription	Fetal Muscle Leg	muscle
7	chr3:134430600-134431600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:134430600-134431600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr3:134430600-134432200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr3:134430800-134431200	Weak transcription	Osteobl	bone
11	chr3:134431200-134432000	Enhancers	Osteobl	bone
12	chr3:134431600-134432000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:134431600-134432200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr3:134431600-134432400	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr3:134431600-134432600	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr3:134431600-134433000	Enhancers	Psoas Muscle	Psoas
17	chr3:134431800-134432000	Enhancers	Fetal Muscle Leg	muscle
18	chr3:134432000-134432400	Weak transcription	Osteobl	bone
19	chr3:134432000-134436800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr3:134432200-134432400	Enhancers	Esophagus	oesophagus
21	chr3:134432200-134433000	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr3:134432200-134437000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:134432400-134432600	Enhancers	Osteobl	bone
24	chr3:134432400-134433000	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr3:134432400-134433000	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr3:134432400-134433400	Weak transcription	Esophagus	oesophagus
27	chr3:134432400-134437600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr3:134432600-134436600	Weak transcription	Osteobl	bone
29	chr3:134432600-134441400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr3:134432800-134433000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr3:134433000-134436600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr3:134433000-134437600	Weak transcription	Psoas Muscle	Psoas
33	chr3:134433400-134433600	Enhancers	Esophagus	oesophagus

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