Variant report

Variant	esv2757004
Chromosome Location	chr3:112104875-112113334
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 323 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:323 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1032239	chr3:112104875-112104876	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs566573426	chr3:112104909-112104910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535352817	chr3:112104926-112104927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187310774	chr3:112104955-112104956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575326194	chr3:112104967-112104968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114740673	chr3:112105081-112105082	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs62262360	chr3:112105089-112105090	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191705248	chr3:112105103-112105104	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540373872	chr3:112105104-112105105	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs377529780	chr3:112105118-112105119	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560179052	chr3:112105133-112105134	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1488264	chr3:112105134-112105135	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs147464444	chr3:112105142-112105143	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562377092	chr3:112105174-112105175	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575481979	chr3:112105186-112105187	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531125448	chr3:112105228-112105229	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs551115765	chr3:112105231-112105232	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs543944452	chr3:112105249-112105250	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs72952484	chr3:112105265-112105266	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs533249059	chr3:112105342-112105343	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs77771896	chr3:112105363-112105364	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs566515572	chr3:112105392-112105393	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs533925929	chr3:112105490-112105491	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs535487923	chr3:112105493-112105494	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs183581693	chr3:112105538-112105539	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs113084335	chr3:112105549-112105550	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs569101174	chr3:112105568-112105569	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs537751034	chr3:112105746-112105747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555489881	chr3:112105755-112105756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1386897	chr3:112105769-112105770	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs147274355	chr3:112105788-112105789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533853915	chr3:112105798-112105799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2244350	chr3:112105863-112105864	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs573802266	chr3:112105889-112105890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556343493	chr3:112105908-112105909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555894379	chr3:112105935-112105936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34574979	chr3:112105977-112105978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11303879	chr3:112105994-112105995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375126538	chr3:112105999-112106000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187087825	chr3:112106032-112106033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564694175	chr3:112106053-112106054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2683898	chr3:112106055-112106056	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs540310454	chr3:112106070-112106071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191943347	chr3:112106072-112106073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529363960	chr3:112106073-112106074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182265077	chr3:112106118-112106119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2633592	chr3:112106123-112106124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531622525	chr3:112106135-112106136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13097018	chr3:112106189-112106190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186612712	chr3:112106214-112106215	Weak 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
Breast cancer	21858162	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

Chromatin state (count:368 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112077600-112107200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr3:112097000-112105600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:112097600-112110400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:112098000-112108800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr3:112098400-112108800	Weak transcription	NH-A	brain
6	chr3:112098800-112108400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:112098800-112108400	Weak transcription	HMEC	breast
8	chr3:112099400-112107400	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr3:112101800-112107000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr3:112101800-112110000	Weak transcription	Aorta	Aorta
11	chr3:112103800-112108600	Weak transcription	Osteobl	bone
12	chr3:112104200-112105000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr3:112104200-112107200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr3:112104200-112107200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr3:112104200-112107200	Weak transcription	Fetal Thymus	thymus
16	chr3:112104200-112107400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr3:112104200-112108000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr3:112104200-112108400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr3:112104200-112108400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr3:112104200-112108400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr3:112104400-112107400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr3:112104400-112108600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr3:112104600-112105200	Enhancers	Primary B cells from peripheral blood	blood
24	chr3:112104600-112107800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr3:112104800-112108400	Weak transcription	HUVEC	blood vessel
26	chr3:112105000-112105600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
27	chr3:112105200-112109000	Weak transcription	Primary B cells from peripheral blood	blood
28	chr3:112105600-112108600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr3:112106600-112109000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr3:112107000-112108600	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr3:112107200-112107400	Enhancers	Thymus	Thymus
32	chr3:112107200-112107600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr3:112107200-112107800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr3:112107200-112108400	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr3:112107200-112108600	Enhancers	Fetal Thymus	thymus
36	chr3:112107200-112109200	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr3:112107200-112110000	Enhancers	Fetal Lung	lung
38	chr3:112107200-112111000	Enhancers	Primary T cells from cord blood	blood
39	chr3:112107200-112111600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr3:112107200-112114000	Enhancers	Primary hematopoietic stem cells	blood
41	chr3:112107200-112117000	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr3:112107400-112108200	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr3:112107400-112110000	Weak transcription	Thymus	Thymus
44	chr3:112107400-112111600	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr3:112107400-112114000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr3:112107400-112117000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr3:112107600-112107800	Enhancers	Adipose Nuclei	Adipose
48	chr3:112107600-112109600	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr3:112107600-112110000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr3:112107800-112108000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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