Variant report

Variant	nsv592646
Chromosome Location	chr3:178555598-178566442
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:178563436..178567007-chr3:178568860..178573987,6	K562	blood:
2	chr3:178543542..178551305-chr3:178552157..178562303,11	MCF-7	breast:
3	chr3:178561734..178564291-chr3:178564558..178566071,2	K562	blood:
4	chr3:178563215..178565966-chr3:178568860..178571886,3	K562	blood:
5	chr3:178562087..178563900-chr3:178576216..178578089,2	MCF-7	breast:
6	chr3:178561734..178564291-chr3:178564558..178566071,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZMAT3-2	chr3:178559333-178559404	ENSG00000237978
2	lnc-ZMAT3-2	chr3:178559333-178559404	ENSG00000237978

No data

Variant related genes	Relation type
ENSG00000237978	chromatin interactions
SORT1	miRNA target sites
SDPR	miRNA target sites

Extended variants
information (count: 358 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:358 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7642594	chr3:178555598-178555599	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs576283082	chr3:178555599-178555600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542076222	chr3:178555606-178555607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75081515	chr3:178555612-178555613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7620861	chr3:178555643-178555644	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs565613930	chr3:178555655-178555656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115713551	chr3:178555763-178555764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs150460949	chr3:178555900-178555901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs6787441	chr3:178555918-178555919	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs542427710	chr3:178555920-178555921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552265327	chr3:178555938-178555939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs77295652	chr3:178555944-178555945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531927709	chr3:178555963-178555964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs4527359	chr3:178555973-178555974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188091091	chr3:178556083-178556084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs4493413	chr3:178556091-178556092	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs554445261	chr3:178556092-178556093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553489151	chr3:178556158-178556159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372587208	chr3:178556169-178556170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539119931	chr3:178556237-178556238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555904552	chr3:178556250-178556251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9837378	chr3:178556266-178556267	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs111835228	chr3:178556267-178556268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577797458	chr3:178556284-178556285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545112426	chr3:178556303-178556304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555632290	chr3:178556311-178556312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572311340	chr3:178556328-178556329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs398051468	chr3:178556359-178556360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559709939	chr3:178556360-178556361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs56249418	chr3:178556373-178556374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371568207	chr3:178556375-178556376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560598497	chr3:178556390-178556391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532674375	chr3:178556435-178556436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546244424	chr3:178556471-178556472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6443582	chr3:178556483-178556484	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs531685145	chr3:178556552-178556553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573005068	chr3:178556616-178556617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568403484	chr3:178556632-178556633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527912944	chr3:178556654-178556655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs180837693	chr3:178556676-178556677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570679213	chr3:178556740-178556741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369212993	chr3:178556759-178556760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539171360	chr3:178556787-178556788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187633164	chr3:178556809-178556810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138188200	chr3:178556815-178556816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540440163	chr3:178556835-178556836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs66510741	chr3:178556974-178556975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs398106793	chr3:178556985-178556986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545000142	chr3:178557010-178557011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73183394	chr3:178557030-178557031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	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
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Anaplastic thyroid cancer	17989125	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Ovarian cancer	18208621	CNVD
Thyroid cancer	17317825	CNVD
Thyroid cancer	17989125	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	21806811	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	19653912	CNVD
Endometrial cancer	19261849	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:178541200-178558400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr3:178542000-178563600	Weak transcription	Aorta	Aorta
3	chr3:178545200-178557800	Weak transcription	Fetal Muscle Leg	muscle
4	chr3:178546400-178563000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr3:178550400-178562800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr3:178555200-178556200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr3:178556200-178558400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr3:178557800-178558800	ZNF genes & repeats	Fetal Muscle Leg	muscle
9	chr3:178558000-178558600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:178558000-178558600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:178558000-178558800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
12	chr3:178558400-178558600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
13	chr3:178558400-178559200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
14	chr3:178558400-178560000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr3:178558600-178559200	Enhancers	Placenta Amnion	Placenta Amnion
16	chr3:178558600-178559600	Enhancers	Osteobl	bone
17	chr3:178558600-178560600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr3:178558800-178562800	Weak transcription	HSMM	muscle
19	chr3:178558800-178566800	Weak transcription	Fetal Muscle Leg	muscle
20	chr3:178559000-178559200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
21	chr3:178559200-178562600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr3:178559200-178567600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr3:178559600-178562800	Weak transcription	Osteobl	bone
24	chr3:178559800-178566800	Weak transcription	Left Ventricle	heart
25	chr3:178560000-178562200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr3:178560000-178562600	Weak transcription	HSMMtube	muscle
27	chr3:178560600-178560800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr3:178562200-178563000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr3:178562400-178567600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr3:178562600-178563000	Enhancers	Muscle Satellite Cultured Cells	--
31	chr3:178562600-178565400	Enhancers	HSMMtube	muscle
32	chr3:178562800-178563000	Enhancers	Osteobl	bone
33	chr3:178562800-178564800	Enhancers	NHDF-Ad	bronchial
34	chr3:178562800-178565000	Enhancers	HSMM	muscle
35	chr3:178562800-178569200	Enhancers	Colon Smooth Muscle	Colon
36	chr3:178563000-178563200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr3:178563000-178563200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr3:178563000-178563400	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr3:178563000-178563400	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr3:178563000-178563400	Weak transcription	Osteobl	bone
41	chr3:178563000-178563600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr3:178563000-178563800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr3:178563000-178564000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr3:178563000-178566000	Enhancers	NH-A	brain
45	chr3:178563000-178567800	Enhancers	Rectal Smooth Muscle	rectum
46	chr3:178563200-178563400	Enhancers	Muscle Satellite Cultured Cells	--
47	chr3:178563200-178564000	Enhancers	Fetal Heart	heart
48	chr3:178563200-178565000	Enhancers	Stomach Smooth Muscle	stomach
49	chr3:178563400-178563600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr3:178563400-178566600	Enhancers	Osteobl	bone

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