Variant report

Variant	esv5860
Chromosome Location	chr3:178549884-178551134
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	chr3:178543542..178551305-chr3:178552157..178562303,11	MCF-7	breast:
2	chr3:178545028..178546976-chr3:178549794..178552747,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571903774	chr3:178549893-178549894	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs9853141	chr3:178549941-178549942	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs13066302	chr3:178549997-178549998	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs372861375	chr3:178550002-178550003	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs116768537	chr3:178550074-178550075	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs536257591	chr3:178550080-178550081	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs9853436	chr3:178550105-178550106	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs11927078	chr3:178550121-178550122	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs377403460	chr3:178550131-178550132	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs149640654	chr3:178550134-178550135	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs144748329	chr3:178550303-178550304	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs185242935	chr3:178550337-178550338	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs529432838	chr3:178550405-178550406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190080141	chr3:178550491-178550492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111674010	chr3:178550501-178550502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558123573	chr3:178550515-178550516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4342088	chr3:178550583-178550584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11711057	chr3:178550699-178550700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148120215	chr3:178550750-178550751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142732413	chr3:178550766-178550767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368954858	chr3:178550866-178550867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371506517	chr3:178550868-178550869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181290450	chr3:178550869-178550870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377425000	chr3:178550870-178550871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374243725	chr3:178550871-178550872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186756307	chr3:178550938-178550939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376117212	chr3:178551002-178551003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540952811	chr3:178551114-178551115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77275514	chr3:178551125-178551126	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:178541200-178558400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr3:178541800-178550600	Weak transcription	Fetal Kidney	kidney
3	chr3:178542000-178563600	Weak transcription	Aorta	Aorta
4	chr3:178543600-178551200	Weak transcription	Ovary	ovary
5	chr3:178545200-178557800	Weak transcription	Fetal Muscle Leg	muscle
6	chr3:178546400-178563000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr3:178547800-178550400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
8	chr3:178550400-178562800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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