Variant report

Variant	esv3327389
Chromosome Location	chr3:145437087-145439635
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 125 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74678551	chr3:145437163-145437164	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs577451214	chr3:145437164-145437165	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs538637407	chr3:145437171-145437172	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs538461831	chr3:145437181-145437182	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs556853441	chr3:145437189-145437190	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs556751701	chr3:145437195-145437196	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs145298830	chr3:145437203-145437204	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs147211703	chr3:145437235-145437236	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs74412527	chr3:145437280-145437281	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs540355455	chr3:145437307-145437308	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs564956249	chr3:145437312-145437313	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs58187053	chr3:145437343-145437344	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs551973372	chr3:145437344-145437345	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs188815879	chr3:145437355-145437356	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs140730893	chr3:145437367-145437368	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs142265457	chr3:145437372-145437373	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs567351596	chr3:145437391-145437392	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs77317080	chr3:145437404-145437405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556495968	chr3:145437416-145437417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546555874	chr3:145437428-145437429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11923561	chr3:145437438-145437439	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs538714052	chr3:145437465-145437466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557131448	chr3:145437468-145437469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376761680	chr3:145437473-145437474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536598272	chr3:145437479-145437480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192182238	chr3:145437518-145437519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183977656	chr3:145437520-145437521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534766965	chr3:145437572-145437573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73864999	chr3:145437598-145437599	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs553948857	chr3:145437619-145437620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs151286127	chr3:145437633-145437634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572421203	chr3:145437636-145437637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs73865000	chr3:145437677-145437678	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs557827999	chr3:145437678-145437679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543931270	chr3:145437705-145437706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113492119	chr3:145437727-145437728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs367679450	chr3:145437762-145437763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs530991792	chr3:145437777-145437778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112198209	chr3:145437806-145437807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191278521	chr3:145437852-145437853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567657291	chr3:145437863-145437864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553327058	chr3:145437864-145437865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368228076	chr3:145437877-145437878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369034512	chr3:145437878-145437879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538526296	chr3:145437885-145437886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148875473	chr3:145437895-145437896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11920909	chr3:145437936-145437937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184602524	chr3:145437968-145437969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575064928	chr3:145438009-145438010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546594807	chr3:145438022-145438023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autism	21956041	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	21509527	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:145430000-145437400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:145436600-145437800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:145436600-145437800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr3:145436800-145437400	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr3:145436800-145437400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr3:145436800-145437400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr3:145436800-145437600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr3:145436800-145437800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr3:145436800-145437800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr3:145436800-145437800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr3:145436800-145437800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr3:145437000-145437400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr3:145437000-145437400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:145437000-145437600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr3:145437400-145437800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr3:145437400-145437800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr3:145437400-145437800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr3:145437600-145437800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr3:145437800-145439200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr3:145437800-145439200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr3:145437800-145439200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr3:145437800-145439400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr3:145437800-145439400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr3:145437800-145439400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr3:145437800-145439600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr3:145439200-145439600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr3:145439200-145439600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr3:145439200-145440000	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr3:145439200-145440000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr3:145439400-145439600	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr3:145439400-145439800	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr3:145439400-145439800	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr3:145439400-145440200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr3:145439600-145440000	Enhancers	HUES48 Cell Line	embryonic stem cell

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