Variant report

Variant	esv3419464
Chromosome Location	chr3:178470258-178473156
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 109 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556244251	chr3:178470290-178470291	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs576100400	chr3:178470358-178470359	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs76073906	chr3:178470368-178470369	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs541836989	chr3:178470386-178470387	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs117933917	chr3:178470387-178470388	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs572401615	chr3:178470418-178470419	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs73051658	chr3:178470419-178470420	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs114610932	chr3:178470421-178470422	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs147497729	chr3:178470509-178470510	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs140134862	chr3:178470512-178470513	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs563384827	chr3:178470530-178470531	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs529035277	chr3:178470559-178470560	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs549043098	chr3:178470567-178470568	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs565587701	chr3:178470575-178470576	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs369426154	chr3:178470616-178470617	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs12637647	chr3:178470683-178470684	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs4536802	chr3:178470747-178470748	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs370235844	chr3:178470773-178470774	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs536869120	chr3:178470778-178470779	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs150650114	chr3:178470783-178470784	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs114225519	chr3:178470820-178470821	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs373499441	chr3:178470830-178470831	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs139798498	chr3:178470845-178470846	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs189455937	chr3:178470868-178470869	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs540310344	chr3:178470955-178470956	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs61796924	chr3:178470976-178470977	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs541367951	chr3:178470982-178470983	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs558187643	chr3:178471082-178471083	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs34162444	chr3:178471089-178471090	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs546282775	chr3:178471117-178471118	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs544110571	chr3:178471137-178471138	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs115470890	chr3:178471145-178471146	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs569478504	chr3:178471184-178471185	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs529510015	chr3:178471206-178471207	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs542400815	chr3:178471214-178471215	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs559361425	chr3:178471215-178471216	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs528079083	chr3:178471331-178471332	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs78648330	chr3:178471362-178471363	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs201683397	chr3:178471369-178471370	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs7372136	chr3:178471375-178471376	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs530749384	chr3:178471404-178471405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181807198	chr3:178471447-178471448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567164776	chr3:178471562-178471563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574645066	chr3:178471571-178471572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78548866	chr3:178471603-178471604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536404837	chr3:178471605-178471606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368467027	chr3:178471686-178471687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540440946	chr3:178471721-178471722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549212444	chr3:178471728-178471729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566135638	chr3:178471792-178471793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
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
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Anaplastic thyroid cancer	17989125	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Ovarian cancer	18208621	CNVD
Thyroid cancer	17317825	CNVD
Thyroid cancer	17989125	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	21806811	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	19653912	CNVD
Endometrial cancer	19261849	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:178461000-178495200	Weak transcription	HSMM	muscle
2	chr3:178467000-178472200	Weak transcription	GM12878-XiMat	blood
3	chr3:178468600-178472400	Weak transcription	Right Atrium	heart
4	chr3:178468600-178475600	Weak transcription	HSMMtube	muscle
5	chr3:178469600-178472400	Weak transcription	Fetal Brain Female	brain
6	chr3:178470200-178471400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
7	chr3:178471400-178471600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr3:178472200-178473600	Enhancers	GM12878-XiMat	blood
9	chr3:178472400-178473000	Enhancers	Right Atrium	heart
10	chr3:178472400-178473200	Enhancers	Fetal Brain Female	brain
11	chr3:178472600-178473000	Enhancers	Ovary	ovary
12	chr3:178473000-178474200	Weak transcription	Ovary	ovary

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