Variant report

Variant	esv3503491
Chromosome Location	chr3:99922012-99926010
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	chr11:2052488..2053195-chr3:99924648..99925466,2	MCF-7	breast:
2	chr2:201727914..201730081-chr3:99923240..99926220,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000013441	chromatin interactions
ENSG00000252759	chromatin interactions

Extended variants
information (count: 138 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79498303	chr3:99922052-99922053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561962823	chr3:99922073-99922074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs117590547	chr3:99922107-99922108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376965776	chr3:99922120-99922121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544527939	chr3:99922138-99922139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562654581	chr3:99922157-99922158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533028642	chr3:99922178-99922179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141233664	chr3:99922179-99922180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560076659	chr3:99922340-99922341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527821998	chr3:99922341-99922342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114849380	chr3:99922348-99922349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190854103	chr3:99922394-99922395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113682431	chr3:99922400-99922401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550316848	chr3:99922448-99922449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200615525	chr3:99922474-99922475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539296638	chr3:99922476-99922477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375892570	chr3:99922479-99922480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572870748	chr3:99922511-99922512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183274161	chr3:99922516-99922517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs56273975	chr3:99922554-99922555	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs137976853	chr3:99922572-99922573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115760701	chr3:99922582-99922583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544097329	chr3:99922602-99922603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188177582	chr3:99922603-99922604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553753210	chr3:99922623-99922624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6804365	chr3:99922671-99922672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577527914	chr3:99922679-99922680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs193173556	chr3:99922712-99922713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560162037	chr3:99922713-99922714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527656747	chr3:99922725-99922726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570984055	chr3:99922745-99922746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113857048	chr3:99922751-99922752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531805454	chr3:99922809-99922810	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532600097	chr3:99922859-99922860	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550112436	chr3:99922995-99922996	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182823360	chr3:99923100-99923101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539385486	chr3:99923117-99923118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548084951	chr3:99923123-99923124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78090221	chr3:99923164-99923165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147134276	chr3:99923210-99923211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4928113	chr3:99923239-99923240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566408029	chr3:99923297-99923298	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs140240171	chr3:99923304-99923305	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs555313861	chr3:99923417-99923418	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs573656591	chr3:99923429-99923430	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs546816405	chr3:99923444-99923445	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs191949333	chr3:99923474-99923475	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs577413555	chr3:99923551-99923552	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs183755273	chr3:99923559-99923560	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs188333503	chr3:99923574-99923575	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16608533	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99917600-99928600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:99917800-99933000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:99920600-99922800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr3:99922800-99923000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
5	chr3:99923000-99928000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr3:99924000-99924400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr3:99924200-99924800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:99924400-99928800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr3:99924800-99928800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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