Variant report

Variant	esv1792237
Chromosome Location	chr3:94053190-94065012
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:94050592..94052105-chr3:94053933..94055810,2	MCF-7	breast:
2	chr3:94055434..94057546-chr3:94059331..94061836,2	K562	blood:
3	chr3:94054939..94055798-chr3:96531581..96532532,3	MCF-7	breast:
4	chr3:94022598..94023133-chr3:94054865..94055827,3	MCF-7	breast:
5	chr3:94054837..94055425-chr3:94267883..94268644,2	MCF-7	breast:
6	chr3:94054880..94055822-chr3:94435163..94435841,3	MCF-7	breast:
7	chr3:93967931..93968992-chr3:94054603..94055377,6	MCF-7	breast:
8	chr3:94054789..94056012-chr3:94435236..94436188,3	MCF-7	breast:
9	chr3:94055434..94057546-chr3:94059331..94061836,2	K562	blood:

No data

Extended variants
information (count: 91 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577605955	chr3:94053253-94053254	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs145965367	chr3:94053287-94053288	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs148888996	chr3:94053329-94053330	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs181239198	chr3:94053361-94053362	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs529557181	chr3:94053377-94053378	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs542971877	chr3:94053501-94053502	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs76193945	chr3:94053511-94053512	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs546567940	chr3:94053524-94053525	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs547504155	chr3:94053526-94053527	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs570605484	chr3:94053550-94053551	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs532933379	chr3:94053562-94053563	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs369463016	chr3:94053634-94053635	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs3912840	chr3:94053659-94053660	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs569568675	chr3:94053748-94053749	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs185293169	chr3:94053751-94053752	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs76133737	chr3:94053760-94053761	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs565498309	chr3:94053782-94053783	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs145441189	chr3:94053818-94053819	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs6762431	chr3:94053850-94053851	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs6796852	chr3:94053873-94053874	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs537164297	chr3:94053888-94053889	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs557295037	chr3:94053900-94053901	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs573953918	chr3:94053949-94053950	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs138135663	chr3:94053968-94053969	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs141063474	chr3:94053969-94053970	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs114998998	chr3:94054818-94054819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551048532	chr3:94054843-94054844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs4143023	chr3:94054849-94054850	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs530634362	chr3:94054850-94054851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553366817	chr3:94054876-94054877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs59125900	chr3:94054886-94054887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs183812142	chr3:94054891-94054892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528357446	chr3:94054903-94054904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551925065	chr3:94054909-94054910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564067800	chr3:94054913-94054914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539294691	chr3:94054921-94054922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559304252	chr3:94055064-94055065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187535916	chr3:94055068-94055069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191964348	chr3:94055084-94055085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs56888403	chr3:94055221-94055222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs57026650	chr3:94055226-94055227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs6147957	chr3:94055248-94055249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs374200667	chr3:94055249-94055250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140703086	chr3:94055251-94055252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs7653463	chr3:94055257-94055258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs556998090	chr3:94055307-94055308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs150753320	chr3:94055313-94055314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs79919311	chr3:94055352-94055353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs137982457	chr3:94055371-94055372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs558874694	chr3:94055385-94055386	Enhancers	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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:94052800-94053200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:94053200-94054000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:94054800-94055200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr3:94055000-94055400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr3:94055000-94055400	Enhancers	Fetal Lung	lung
6	chr3:94063800-94064200	ZNF genes & repeats	Aorta	Aorta
7	chr3:94064600-94064800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:94064600-94066200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr3:94065000-94066600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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