Variant report

Variant	esv3406437
Chromosome Location	chr3:145437687-145440235
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 119 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543931270	chr3:145437705-145437706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs113492119	chr3:145437727-145437728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs367679450	chr3:145437762-145437763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530991792	chr3:145437777-145437778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112198209	chr3:145437806-145437807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191278521	chr3:145437852-145437853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567657291	chr3:145437863-145437864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553327058	chr3:145437864-145437865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368228076	chr3:145437877-145437878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369034512	chr3:145437878-145437879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538526296	chr3:145437885-145437886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148875473	chr3:145437895-145437896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11920909	chr3:145437936-145437937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184602524	chr3:145437968-145437969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575064928	chr3:145438009-145438010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546594807	chr3:145438022-145438023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571269274	chr3:145438023-145438024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532682215	chr3:145438024-145438025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550795468	chr3:145438027-145438028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149998833	chr3:145438049-145438050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372307956	chr3:145438125-145438126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373491689	chr3:145438127-145438128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375787947	chr3:145438152-145438153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368614625	chr3:145438245-145438246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377427362	chr3:145438276-145438277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190383988	chr3:145438308-145438309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370991640	chr3:145438318-145438319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372919952	chr3:145438367-145438368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374771751	chr3:145438393-145438394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373262809	chr3:145438396-145438397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182568830	chr3:145438404-145438405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376167974	chr3:145438413-145438414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369180629	chr3:145438414-145438415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370542715	chr3:145438416-145438417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554768092	chr3:145438419-145438420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374593750	chr3:145438424-145438425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs367789097	chr3:145438432-145438433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187228639	chr3:145438467-145438468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188757641	chr3:145438496-145438497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371516750	chr3:145438522-145438523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374993059	chr3:145438523-145438524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370244487	chr3:145438566-145438567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374622608	chr3:145438567-145438568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181611654	chr3:145438595-145438596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368639015	chr3:145438614-145438615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534031968	chr3:145438615-145438616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185333510	chr3:145438633-145438634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372738543	chr3:145438654-145438655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377127205	chr3:145438663-145438664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs61723773	chr3:145438664-145438665	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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:145436600-145437800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:145436600-145437800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr3:145436800-145437800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr3:145436800-145437800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr3:145436800-145437800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr3:145436800-145437800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr3:145437400-145437800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr3:145437400-145437800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr3:145437400-145437800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:145437600-145437800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr3:145437800-145439200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr3:145437800-145439200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr3:145437800-145439200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr3:145437800-145439400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr3:145437800-145439400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr3:145437800-145439400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr3:145437800-145439600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr3:145439200-145439600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr3:145439200-145439600	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr3:145439200-145440000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr3:145439200-145440000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr3:145439400-145439600	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr3:145439400-145439800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr3:145439400-145439800	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr3:145439400-145440200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr3:145439600-145440000	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr3:145440200-145443200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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