Variant report

Variant	esv3416778
Chromosome Location	chr3:164059803-164059993
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13327707	chr3:164059804-164059805	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs200101539	chr3:164059851-164059852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375641578	chr3:164059852-164059853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138357263	chr3:164059859-164059860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370692167	chr3:164059865-164059866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6806489	chr3:164059867-164059868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs67991503	chr3:164059868-164059869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375637764	chr3:164059871-164059872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200161685	chr3:164059872-164059873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs13061806	chr3:164059873-164059874	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs200234984	chr3:164059882-164059883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368372264	chr3:164059885-164059886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6804029	chr3:164059888-164059889	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs551640402	chr3:164059890-164059891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368427704	chr3:164059891-164059892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201641988	chr3:164059898-164059899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs199955295	chr3:164059906-164059907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564353462	chr3:164059925-164059926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144466429	chr3:164059931-164059932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201178065	chr3:164059943-164059944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373797694	chr3:164059944-164059945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546795907	chr3:164059957-164059958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566932015	chr3:164059961-164059962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148403374	chr3:164059984-164059985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
head and neck squamous cell carcinoma	17671120	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
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Bladder cancer	21909424	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD
Alcoholism	21790672	CNVD
Schizophrenia	20967226	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute myeloid leukemia	19651600	CNVD
Autism	19287141	CNVD
Incontinentia Pigmenti	22033527	CNVD
Rett syndrome	21593744	CNVD
Urothelial carcinoma	21177765	CNVD
Autism	20531469	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Recurrent pregnancy loss	19789632	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:164057200-164063800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:164058000-164066200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr3:164059000-164060400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:164059000-164060800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr3:164059800-164060000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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