Variant report

Variant	esv1829957
Chromosome Location	chr3:99203330-99208129
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 157 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:157 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13320371	chr3:99203330-99203331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs143181786	chr3:99203364-99203365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73144645	chr3:99203365-99203366	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs567079676	chr3:99203385-99203386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541274522	chr3:99203388-99203389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs72926449	chr3:99203468-99203469	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs72926450	chr3:99203521-99203522	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs542537104	chr3:99203534-99203535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs145913432	chr3:99203562-99203563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147504770	chr3:99203578-99203579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140016617	chr3:99203587-99203588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs115193467	chr3:99203664-99203665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369371576	chr3:99203722-99203723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571021155	chr3:99203839-99203840	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs532117313	chr3:99203894-99203895	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs72926452	chr3:99203899-99203900	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs73144648	chr3:99203915-99203916	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs536141259	chr3:99203923-99203924	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs554863206	chr3:99203969-99203970	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs570036449	chr3:99203986-99203987	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs572668618	chr3:99204008-99204009	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs9825528	chr3:99204023-99204024	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs556427675	chr3:99204027-99204028	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs377193850	chr3:99204031-99204032	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs559051951	chr3:99204053-99204054	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs7644179	chr3:99204084-99204085	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs566120033	chr3:99204088-99204089	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs113805199	chr3:99204114-99204115	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs541557787	chr3:99204118-99204119	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs2248892	chr3:99204123-99204124	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs142866931	chr3:99204143-99204144	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs542132442	chr3:99204238-99204239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs151036951	chr3:99204281-99204282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543979359	chr3:99204283-99204284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183441973	chr3:99204298-99204299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs80263952	chr3:99204370-99204371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564585530	chr3:99204374-99204375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs77324164	chr3:99204382-99204383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs547505774	chr3:99204410-99204411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs73858448	chr3:99204411-99204412	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs139670342	chr3:99204432-99204433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs149749352	chr3:99204455-99204456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569975128	chr3:99204495-99204496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs34371600	chr3:99204552-99204553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs187561521	chr3:99204568-99204569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs115016128	chr3:99204579-99204580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs1513314	chr3:99204581-99204582	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs116680740	chr3:99204588-99204589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543625128	chr3:99204597-99204598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574890468	chr3:99204613-99204614	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	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
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99199400-99203800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr3:99201000-99203800	Weak transcription	NHDF-Ad	bronchial
3	chr3:99201800-99203800	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr3:99202200-99203400	Weak transcription	HUVEC	blood vessel
5	chr3:99202600-99204400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr3:99202600-99204800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr3:99202800-99203400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr3:99203200-99204800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr3:99203400-99203800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:99203400-99204200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr3:99203400-99204200	Enhancers	HUVEC	blood vessel
12	chr3:99203400-99204600	Enhancers	Primary hematopoietic stem cells	blood
13	chr3:99203400-99204800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr3:99203600-99204200	Enhancers	NH-A	brain
15	chr3:99203600-99204200	Enhancers	Osteobl	bone
16	chr3:99203800-99204200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr3:99203800-99204200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr3:99203800-99204400	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr3:99203800-99204600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr3:99203800-99204600	Enhancers	NHDF-Ad	bronchial
21	chr3:99203800-99204800	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr3:99203800-99204800	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr3:99204000-99204400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr3:99204000-99204400	Enhancers	HSMM	muscle
25	chr3:99204000-99204800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr3:99204200-99204600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr3:99204200-99204600	Enhancers	GM12878-XiMat	blood
28	chr3:99204200-99205000	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr3:99205000-99205200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr3:99205000-99205400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr3:99205000-99206000	ZNF genes & repeats	Pancreas	Pancrea
32	chr3:99205400-99206400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr3:99207200-99208400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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