Variant report

Variant	esv3451435
Chromosome Location	chr3:112666858-112667205
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C3orf17-4	chr3:112667128-112668052	l_2440_chr3:112667127-112679803_testes

Extended variants
information (count: 10 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2133946	chr3:112666859-112666860	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs141522487	chr3:112666881-112666882	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372006975	chr3:112666946-112666947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181583952	chr3:112666953-112666954	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186302674	chr3:112667027-112667028	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546523344	chr3:112667040-112667041	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560385636	chr3:112667055-112667056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374501747	chr3:112667081-112667082	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567301291	chr3:112667111-112667112	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377465187	chr3:112667118-112667119	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	21115979	CNVD
Attention deficit hyperactivity disorder	22180640	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112661000-112669800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr3:112661200-112677000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr3:112662000-112667800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr3:112663800-112668800	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr3:112664400-112669400	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr3:112665200-112677800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr3:112665600-112675400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr3:112666200-112670200	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr3:112666200-112673200	Weak transcription	Primary T cells from cord blood	blood
10	chr3:112666400-112675400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr3:112666600-112667400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr3:112666800-112667200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
13	chr3:112666800-112668600	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr3:112667200-112667400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr3:112667200-112667600	Enhancers	H1 Cell Line	embryonic stem cell
16	chr3:112667200-112667600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:112667200-112669600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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