Variant report

Variant	esv3494205
Chromosome Location	chr3:112102877-112114096
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 400 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:400 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2633594	chr3:112102964-112102965	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs562670550	chr3:112102976-112102977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537555457	chr3:112103027-112103028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs12633806	chr3:112103071-112103072	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs577206936	chr3:112103109-112103110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6438069	chr3:112103140-112103141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2244035	chr3:112103300-112103301	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs138380652	chr3:112103352-112103353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541592399	chr3:112103370-112103371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561557878	chr3:112103408-112103409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530478850	chr3:112103409-112103410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11303227	chr3:112103496-112103497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs376627652	chr3:112103511-112103512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141947351	chr3:112103578-112103579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs117302843	chr3:112103579-112103580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs180833510	chr3:112103610-112103611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556602267	chr3:112103662-112103663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111826129	chr3:112103670-112103671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552883178	chr3:112103671-112103672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566350394	chr3:112103755-112103756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528802397	chr3:112103756-112103757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548751784	chr3:112103842-112103843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568683725	chr3:112103903-112103904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537139747	chr3:112103917-112103918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1565186	chr3:112103919-112103920	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs570733222	chr3:112103962-112103963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539417817	chr3:112103989-112103990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185242256	chr3:112104097-112104098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572762924	chr3:112104103-112104104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542784276	chr3:112104148-112104149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555143013	chr3:112104153-112104154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560961079	chr3:112104211-112104212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189762124	chr3:112104230-112104231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546678569	chr3:112104242-112104243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183881932	chr3:112104350-112104351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543957783	chr3:112104399-112104400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564236382	chr3:112104428-112104429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577687590	chr3:112104429-112104430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs540193072	chr3:112104475-112104476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543138735	chr3:112104532-112104533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529539334	chr3:112104555-112104556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528791792	chr3:112104606-112104607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551136658	chr3:112104624-112104625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548939729	chr3:112104662-112104663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569320161	chr3:112104665-112104666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138972121	chr3:112104695-112104696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs149346112	chr3:112104703-112104704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550914304	chr3:112104762-112104763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs2244228	chr3:112104832-112104833	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs539555900	chr3:112104834-112104835	Weak transcription Enhancers	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:412 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112077600-112107200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr3:112094400-112104400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr3:112095000-112104200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr3:112095400-112103600	Weak transcription	Fetal Thymus	thymus
5	chr3:112097000-112103000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:112097000-112103800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr3:112097000-112105600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr3:112097600-112110400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:112098000-112103800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr3:112098000-112108800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr3:112098400-112103800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr3:112098400-112108800	Weak transcription	NH-A	brain
13	chr3:112098800-112103600	Weak transcription	Osteobl	bone
14	chr3:112098800-112108400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:112098800-112108400	Weak transcription	HMEC	breast
16	chr3:112099400-112107400	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr3:112101800-112107000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr3:112101800-112110000	Weak transcription	Aorta	Aorta
19	chr3:112102000-112104600	Weak transcription	Primary B cells from peripheral blood	blood
20	chr3:112102200-112103600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr3:112102600-112103600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr3:112103000-112104200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr3:112103400-112104000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:112103600-112104200	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr3:112103600-112104200	Enhancers	Primary hematopoietic stem cells	blood
26	chr3:112103600-112104200	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr3:112103600-112104200	Enhancers	Fetal Thymus	thymus
28	chr3:112103600-112104800	Enhancers	HUVEC	blood vessel
29	chr3:112103800-112104200	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr3:112103800-112104400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr3:112103800-112104600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr3:112103800-112108600	Weak transcription	Osteobl	bone
33	chr3:112104200-112105000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr3:112104200-112107200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr3:112104200-112107200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr3:112104200-112107200	Weak transcription	Fetal Thymus	thymus
37	chr3:112104200-112107400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr3:112104200-112108000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr3:112104200-112108400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr3:112104200-112108400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr3:112104200-112108400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr3:112104400-112107400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr3:112104400-112108600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr3:112104600-112105200	Enhancers	Primary B cells from peripheral blood	blood
45	chr3:112104600-112107800	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr3:112104800-112108400	Weak transcription	HUVEC	blood vessel
47	chr3:112105000-112105600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
48	chr3:112105200-112109000	Weak transcription	Primary B cells from peripheral blood	blood
49	chr3:112105600-112108600	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr3:112106600-112109000	Weak transcription	H1 Cell Line	embryonic stem cell

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