Variant report

Variant	esv3370198
Chromosome Location	chr3:93509062-93519960
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 873 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:873 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200200031	chr3:93509171-93509172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201447229	chr3:93509177-93509178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs202222279	chr3:93509221-93509222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111985233	chr3:93509241-93509242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112744067	chr3:93509261-93509262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201391580	chr3:93509290-93509291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199659631	chr3:93509377-93509378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200574116	chr3:93509394-93509395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs71312324	chr3:93509400-93509401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201183429	chr3:93509520-93509521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111894872	chr3:93509523-93509524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs199872563	chr3:93509552-93509553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200739359	chr3:93509600-93509601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201663993	chr3:93509609-93509610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544757569	chr3:93509665-93509666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200044932	chr3:93509683-93509684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112481390	chr3:93509729-93509730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201608557	chr3:93509766-93509767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71360813	chr3:93509784-93509785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs199892255	chr3:93509822-93509823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567311125	chr3:93509999-93510000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374698768	chr3:93510028-93510029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369059762	chr3:93510050-93510051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200988909	chr3:93510087-93510088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs202133651	chr3:93510115-93510116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200133641	chr3:93510134-93510135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565122211	chr3:93510172-93510173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530609625	chr3:93510215-93510216	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs59142746	chr3:93510228-93510229	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs369633457	chr3:93510230-93510231	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs567523262	chr3:93510260-93510261	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs192171669	chr3:93510261-93510262	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs201044473	chr3:93510273-93510274	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs201994235	chr3:93510287-93510288	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs200403552	chr3:93510307-93510308	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs200482531	chr3:93510317-93510318	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs201557985	chr3:93510318-93510319	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs75165425	chr3:93510319-93510320	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs202118842	chr3:93510320-93510321	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs397797493	chr3:93510332-93510333	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs113903602	chr3:93510335-93510336	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs113230426	chr3:93510344-93510345	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs546984875	chr3:93510345-93510346	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs201141786	chr3:93510347-93510348	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs112666416	chr3:93510348-93510349	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs199714329	chr3:93510351-93510352	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs556182433	chr3:93510364-93510365	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs200821966	chr3:93510374-93510375	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs539149424	chr3:93510377-93510378	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs111765690	chr3:93510378-93510379	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Oral cancer	21386901	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
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	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
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:93508000-93510200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr3:93508000-93510400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:93508200-93510200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr3:93508200-93510200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr3:93510200-93512200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
6	chr3:93510200-93513200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr3:93510200-93515600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
8	chr3:93510400-93516600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:93511400-93511600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
10	chr3:93511600-93512600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
11	chr3:93512600-93513000	ZNF genes & repeats	Fetal Brain Male	brain
12	chr3:93513800-93514000	Active TSS	Aorta	Aorta
13	chr3:93514000-93514600	Weak transcription	Aorta	Aorta
14	chr3:93514600-93515200	Active TSS	Aorta	Aorta
15	chr3:93515000-93515200	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:93515000-93516800	ZNF genes & repeats	Liver	Liver
17	chr3:93516800-93519200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr3:93517800-93518200	ZNF genes & repeats	HUVEC	blood vessel

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