Variant report

Variant	esv2442255
Chromosome Location	chr3:52709458-52711078
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375076563	chr3:52709485-52709486	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538241436	chr3:52709503-52709504	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547114394	chr3:52709507-52709508	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370766528	chr3:52709539-52709540	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143697197	chr3:52709543-52709544	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536052849	chr3:52709553-52709554	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577916209	chr3:52709682-52709683	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555895251	chr3:52709698-52709699	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73078835	chr3:52709711-52709712	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs3898228	chr3:52709719-52709720	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567983783	chr3:52709738-52709739	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538597034	chr3:52709739-52709740	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183294364	chr3:52709741-52709742	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528055048	chr3:52709763-52709764	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs117264020	chr3:52709806-52709807	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114180403	chr3:52709810-52709811	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4130905	chr3:52709831-52709832	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs180905584	chr3:52709850-52709851	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372751318	chr3:52709853-52709854	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574938794	chr3:52709859-52709860	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140348313	chr3:52709860-52709861	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145543472	chr3:52709927-52709928	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113961084	chr3:52709931-52709932	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370312667	chr3:52709949-52709950	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532721470	chr3:52709976-52709977	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373048805	chr3:52709988-52709989	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77915500	chr3:52710130-52710131	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112689310	chr3:52710167-52710168	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559971486	chr3:52710168-52710169	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112363586	chr3:52710169-52710170	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs80050956	chr3:52710170-52710171	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62255368	chr3:52710172-52710173	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
33	rs529787657	chr3:52710173-52710174	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549456952	chr3:52710182-52710183	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550690388	chr3:52710230-52710231	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146525007	chr3:52710298-52710299	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs149032308	chr3:52710377-52710378	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs11510435	chr3:52710406-52710407	Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs565926074	chr3:52710408-52710409	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535018849	chr3:52710410-52710411	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs143048614	chr3:52710445-52710446	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114246126	chr3:52710490-52710491	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574875236	chr3:52710545-52710546	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537574660	chr3:52710588-52710589	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs2336542	chr3:52710636-52710637	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs371368531	chr3:52710653-52710654	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs148194633	chr3:52710669-52710670	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572810220	chr3:52710700-52710701	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559806239	chr3:52710704-52710705	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs573438685	chr3:52710724-52710725	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Septo-optic dysplasia	21572526	CNVD
Biliary cancer	19435499	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Ventriculomegaly	21325761	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Lung cancer	16618734	CNVD
Neuroblastoma	19686582	CNVD
Renal cell carcinoma	18765545	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:164 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52587200-52719200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:52592200-52719200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:52637200-52715800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:52642600-52711200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr3:52650000-52712200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr3:52655200-52716400	Strong transcription	Fetal Thymus	thymus
7	chr3:52665400-52719200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:52670800-52715400	Strong transcription	Dnd41	blood
9	chr3:52681200-52716200	Strong transcription	Fetal Muscle Trunk	muscle
10	chr3:52688000-52714800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:52696000-52712000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr3:52696200-52711800	Weak transcription	Aorta	Aorta
13	chr3:52696400-52710200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr3:52697600-52710200	Weak transcription	Fetal Brain Male	brain
15	chr3:52698800-52714400	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr3:52699400-52715600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr3:52700000-52710800	Weak transcription	Small Intestine	intestine
18	chr3:52700600-52715000	Strong transcription	Primary B cells from cord blood	blood
19	chr3:52701800-52715600	Strong transcription	Brain Germinal Matrix	brain
20	chr3:52702000-52714400	Strong transcription	Fetal Lung	lung
21	chr3:52703600-52712200	Strong transcription	Liver	Liver
22	chr3:52703600-52716000	Strong transcription	Fetal Brain Female	brain
23	chr3:52703800-52713400	Strong transcription	Primary T cells from cord blood	blood
24	chr3:52703800-52715800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr3:52704000-52712800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr3:52704000-52714200	Strong transcription	Thymus	Thymus
27	chr3:52704000-52714600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr3:52704000-52716000	Strong transcription	Fetal Muscle Leg	muscle
29	chr3:52704400-52714000	Strong transcription	Fetal Intestine Large	intestine
30	chr3:52704600-52714200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr3:52704800-52711000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr3:52704800-52715600	Strong transcription	Primary B cells from peripheral blood	blood
33	chr3:52705000-52710600	Weak transcription	Spleen	Spleen
34	chr3:52705000-52713000	Weak transcription	Right Atrium	heart
35	chr3:52705000-52714000	Strong transcription	Brain Anterior Caudate	brain
36	chr3:52705000-52714400	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr3:52705200-52715200	Strong transcription	Duodenum Mucosa	Duodenum
38	chr3:52705600-52714600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr3:52705600-52715000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr3:52705600-52715200	Strong transcription	Placenta	Placenta
41	chr3:52705600-52715800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr3:52705800-52715600	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr3:52706000-52710600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr3:52706000-52714200	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr3:52706000-52714400	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr3:52706000-52715000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr3:52706000-52716200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr3:52706000-52716200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr3:52706200-52710200	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr3:52706200-52713000	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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