Variant report

Variant	esv3383385
Chromosome Location	chr3:93515596-93517964
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 143 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201678866	chr3:93515597-93515598	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs548061320	chr3:93515607-93515608	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs566522073	chr3:93515627-93515628	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs370792059	chr3:93515661-93515662	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs199997218	chr3:93515668-93515669	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs111749896	chr3:93515672-93515673	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs541289745	chr3:93515676-93515677	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs201895115	chr3:93515680-93515681	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs111515407	chr3:93515687-93515688	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs558691832	chr3:93515691-93515692	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs568935988	chr3:93515695-93515696	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs538063459	chr3:93515699-93515700	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs554498324	chr3:93515704-93515705	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs574561306	chr3:93515715-93515716	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs533884978	chr3:93515745-93515746	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs545159763	chr3:93515794-93515795	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs554033185	chr3:93515797-93515798	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs559722421	chr3:93515833-93515834	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs527287301	chr3:93515834-93515835	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs545752036	chr3:93515844-93515845	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs188917720	chr3:93515847-93515848	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs549102705	chr3:93515862-93515863	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs192531732	chr3:93515872-93515873	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs560805423	chr3:93515965-93515966	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs562658041	chr3:93515999-93516000	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs569382178	chr3:93516034-93516035	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs10212216	chr3:93516050-93516051	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs542292290	chr3:93516081-93516082	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs199902056	chr3:93516093-93516094	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs201073982	chr3:93516106-93516107	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs377061972	chr3:93516107-93516108	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs527881494	chr3:93516139-93516140	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs376671361	chr3:93516176-93516177	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs370032691	chr3:93516179-93516180	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs564726234	chr3:93516186-93516187	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs532157558	chr3:93516207-93516208	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs552177060	chr3:93516221-93516222	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs201849579	chr3:93516234-93516235	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs568851714	chr3:93516239-93516240	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs537580908	chr3:93516251-93516252	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs200365800	chr3:93516258-93516259	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs189768943	chr3:93516261-93516262	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs568213305	chr3:93516264-93516265	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs556822618	chr3:93516267-93516268	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs181247130	chr3:93516291-93516292	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs553791784	chr3:93516312-93516313	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs200742161	chr3:93516329-93516330	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs576691815	chr3:93516339-93516340	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs111993908	chr3:93516361-93516362	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs539325916	chr3:93516366-93516367	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:93510200-93515600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
2	chr3:93510400-93516600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:93515000-93516800	ZNF genes & repeats	Liver	Liver
4	chr3:93516800-93519200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:93517800-93518200	ZNF genes & repeats	HUVEC	blood vessel

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