Variant report

Variant	esv34138
Chromosome Location	chr3:98034684-98045927
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	chr3:98043669..98046299-chr3:98046855..98049975,3	K562	blood:
2	chr3:97904894..97907628-chr3:98045904..98048505,2	K562	blood:

Extended variants
information (count: 445 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:445 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16839647	chr3:98034684-98034685	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs75836469	chr3:98034729-98034730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181309682	chr3:98034762-98034763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376355497	chr3:98034770-98034771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs151065713	chr3:98034796-98034797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562306041	chr3:98034823-98034824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564440570	chr3:98034835-98034836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs61074099	chr3:98034853-98034854	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs371112675	chr3:98034879-98034880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551646018	chr3:98034881-98034882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533825626	chr3:98034892-98034893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547061960	chr3:98034907-98034908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570555965	chr3:98034953-98034954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs56908826	chr3:98034985-98034986	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs140917147	chr3:98035018-98035019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575868391	chr3:98035027-98035028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372942061	chr3:98035070-98035071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372391003	chr3:98035071-98035072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574858225	chr3:98035097-98035098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538543054	chr3:98035101-98035102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368346632	chr3:98035112-98035113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555351284	chr3:98035129-98035130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575026477	chr3:98035145-98035146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372599306	chr3:98035155-98035156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34460456	chr3:98035209-98035210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150198213	chr3:98035292-98035293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560256756	chr3:98035300-98035301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577280828	chr3:98035302-98035303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545935332	chr3:98035318-98035319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376859084	chr3:98035403-98035404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562345090	chr3:98035433-98035434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531448503	chr3:98035451-98035452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186311532	chr3:98035477-98035478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547297927	chr3:98035502-98035503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs575843509	chr3:98035518-98035519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191761732	chr3:98035524-98035525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs116413546	chr3:98035529-98035530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs182993733	chr3:98035531-98035532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs79075282	chr3:98035535-98035536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564475041	chr3:98035557-98035558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563791081	chr3:98035558-98035559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549857450	chr3:98035621-98035622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186535261	chr3:98035634-98035635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs75991682	chr3:98035635-98035636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs112738909	chr3:98035668-98035669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575095858	chr3:98035710-98035711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534189786	chr3:98035711-98035712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554143916	chr3:98035742-98035743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs577116153	chr3:98035761-98035762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs146980666	chr3:98035762-98035763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98028400-98039400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr3:98030800-98041800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:98035400-98036200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr3:98036200-98041200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr3:98037000-98039400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr3:98037000-98040000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr3:98038600-98041600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:98038800-98045200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr3:98039400-98039600	Genic enhancers	H9 Cell Line	embryonic stem cell
10	chr3:98039400-98040600	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr3:98039600-98040800	Strong transcription	H9 Cell Line	embryonic stem cell
12	chr3:98040000-98041000	Strong transcription	H1 Cell Line	embryonic stem cell
13	chr3:98040600-98041400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr3:98040800-98041200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr3:98041000-98041400	Enhancers	GM12878-XiMat	blood
16	chr3:98041000-98041600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr3:98041200-98041400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr3:98041200-98041400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr3:98041200-98042200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr3:98041200-98043800	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr3:98041200-98045800	Active TSS	H9 Cell Line	embryonic stem cell
22	chr3:98041400-98041800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr3:98041400-98042000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr3:98041400-98042600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr3:98041400-98044200	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr3:98041400-98044400	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr3:98041400-98045600	Weak transcription	GM12878-XiMat	blood
28	chr3:98041600-98042000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr3:98041600-98042000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr3:98041600-98045000	Active TSS	H1 Cell Line	embryonic stem cell
31	chr3:98041800-98042000	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr3:98041800-98042600	Enhancers	HepG2	liver
33	chr3:98041800-98044400	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr3:98042000-98042400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr3:98042000-98043600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr3:98042000-98044400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr3:98042000-98044600	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr3:98042200-98044000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr3:98042400-98042600	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr3:98042600-98043600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr3:98042600-98043800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr3:98042600-98044200	Weak transcription	HepG2	liver
43	chr3:98043600-98044000	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr3:98043600-98044000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr3:98043600-98044400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr3:98043800-98044000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr3:98043800-98044000	Active TSS	Pancreas	Pancrea
48	chr3:98043800-98044200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr3:98043800-98044200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr3:98043800-98044200	Enhancers	Gastric	stomach

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