Variant report

Variant	esv2588841
Chromosome Location	chr3:113480186-113481737
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186122721	chr3:113480258-113480259	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs142743533	chr3:113480260-113480261	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201870480	chr3:113480273-113480274	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528746485	chr3:113480319-113480320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190609058	chr3:113480320-113480321	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs151008327	chr3:113480336-113480337	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112228562	chr3:113480344-113480345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183478013	chr3:113480350-113480351	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552049457	chr3:113480356-113480357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546986256	chr3:113480385-113480386	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570373673	chr3:113480400-113480401	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs8180078	chr3:113480412-113480413	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs57336266	chr3:113480413-113480414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574893104	chr3:113480420-113480421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535564745	chr3:113480426-113480427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34710341	chr3:113480439-113480440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374266261	chr3:113480457-113480458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554438297	chr3:113480466-113480467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79517954	chr3:113480476-113480477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7647367	chr3:113480483-113480484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74509490	chr3:113480486-113480487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75303691	chr3:113480490-113480491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35015114	chr3:113480519-113480520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77680602	chr3:113480523-113480524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79331990	chr3:113480524-113480525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78714224	chr3:113480532-113480533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs80072545	chr3:113480537-113480538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368337881	chr3:113480538-113480539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11407106	chr3:113480583-113480584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs36127700	chr3:113480595-113480596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs55887321	chr3:113480681-113480682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs55973343	chr3:113480688-113480689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs13080862	chr3:113480744-113480745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs13080864	chr3:113480753-113480754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186330562	chr3:113480774-113480775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs13081006	chr3:113480790-113480791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546562493	chr3:113480797-113480798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs13081449	chr3:113480798-113480799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77772680	chr3:113480803-113480804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564777070	chr3:113480815-113480816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77376756	chr3:113480816-113480817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76281602	chr3:113480819-113480820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13081164	chr3:113480825-113480826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544214021	chr3:113480828-113480829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13081029	chr3:113480829-113480830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs71319382	chr3:113480847-113480848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12695296	chr3:113480855-113480856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs74599501	chr3:113480860-113480861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79245074	chr3:113480872-113480873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79714679	chr3:113480882-113480883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Basal cell lymphoma	21115979	CNVD
Attention deficit hyperactivity disorder	22180640	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	22174824	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:113466800-113489000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:113467200-113504000	Weak transcription	Fetal Stomach	stomach
3	chr3:113467200-113514800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr3:113467200-113528600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:113467600-113488400	Weak transcription	NH-A	brain
6	chr3:113468000-113487800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr3:113468000-113488200	Weak transcription	A549	lung
8	chr3:113468000-113488600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr3:113468000-113495200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr3:113468000-113499800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr3:113468000-113502800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr3:113468200-113488400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr3:113468600-113488400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr3:113469000-113519400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr3:113469600-113502400	Weak transcription	Hela-S3	cervix
16	chr3:113469800-113499800	Weak transcription	Fetal Intestine Small	intestine
17	chr3:113472600-113505800	Weak transcription	Right Ventricle	heart
18	chr3:113472800-113504400	Weak transcription	Lung	lung
19	chr3:113473400-113483000	Weak transcription	Psoas Muscle	Psoas
20	chr3:113473400-113498800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr3:113473600-113502400	Weak transcription	Brain Hippocampus Middle	brain
22	chr3:113473800-113492200	Weak transcription	Colon Smooth Muscle	Colon
23	chr3:113474200-113501600	Weak transcription	HUVEC	blood vessel
24	chr3:113474400-113485800	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr3:113476400-113480400	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr3:113476600-113488400	Weak transcription	HSMM	muscle
27	chr3:113477400-113492000	Weak transcription	Dnd41	blood
28	chr3:113477600-113490800	Weak transcription	Fetal Intestine Large	intestine
29	chr3:113477600-113492200	Weak transcription	Primary T cells from cord blood	blood
30	chr3:113477800-113487800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr3:113477800-113488000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr3:113477800-113488200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr3:113477800-113488400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr3:113477800-113501800	Weak transcription	Primary hematopoietic stem cells	blood
35	chr3:113477800-113505000	Weak transcription	Brain Substantia Nigra	brain
36	chr3:113477800-113513200	Weak transcription	Fetal Brain Male	brain
37	chr3:113478000-113485400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr3:113478000-113488200	Weak transcription	Liver	Liver
39	chr3:113478000-113488200	Weak transcription	HSMMtube	muscle
40	chr3:113478000-113488200	Weak transcription	NHDF-Ad	bronchial
41	chr3:113478000-113488400	Weak transcription	NHEK	skin
42	chr3:113478000-113492400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr3:113478000-113499400	Weak transcription	Primary B cells from cord blood	blood
44	chr3:113478000-113501800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr3:113478000-113502600	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr3:113478200-113492000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr3:113478200-113502400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr3:113478800-113490800	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr3:113479200-113502000	Weak transcription	GM12878-XiMat	blood
50	chr3:113480000-113492600	Weak transcription	Primary T helper cells fromperipheralblood	blood

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