Variant report

Variant	esv3440152
Chromosome Location	chr3:56764403-56773941
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 388 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:388 , 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	rs66881414	chr3:56764417-56764418	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs13095559	chr3:56764441-56764442	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs546126430	chr3:56764470-56764471	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78634316	chr3:56764475-56764476	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs377121002	chr3:56764476-56764477	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537094975	chr3:56764508-56764509	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188855432	chr3:56764534-56764535	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561070241	chr3:56764620-56764621	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192173810	chr3:56764629-56764630	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549770136	chr3:56764647-56764648	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184385596	chr3:56764653-56764654	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138070635	chr3:56764663-56764664	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552859594	chr3:56764688-56764689	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566227050	chr3:56764698-56764699	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535247015	chr3:56764699-56764700	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189542332	chr3:56764756-56764757	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574587754	chr3:56764792-56764793	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143640782	chr3:56764820-56764821	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs143167905	chr3:56764835-56764836	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556778126	chr3:56764837-56764838	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs76681993	chr3:56764844-56764845	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs111581954	chr3:56764853-56764854	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs28641188	chr3:56764931-56764932	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs573028828	chr3:56764948-56764949	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147157987	chr3:56764994-56764995	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561507994	chr3:56765008-56765009	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76922931	chr3:56765012-56765013	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs373730342	chr3:56765032-56765033	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs28651361	chr3:56765036-56765037	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs538150483	chr3:56765089-56765090	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552915913	chr3:56765172-56765173	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs60269209	chr3:56765184-56765185	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs368586700	chr3:56765219-56765220	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113277818	chr3:56765239-56765240	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs75056025	chr3:56765247-56765248	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535195386	chr3:56765255-56765256	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552254860	chr3:56765293-56765294	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181844166	chr3:56765420-56765421	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148226333	chr3:56765423-56765424	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76218586	chr3:56765439-56765440	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs539385973	chr3:56765466-56765467	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532098542	chr3:56765477-56765478	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs141220060	chr3:56765508-56765509	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs4681775	chr3:56765545-56765546	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs200077449	chr3:56765620-56765621	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557054164	chr3:56765621-56765622	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs62251259	chr3:56765622-56765623	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs55849986	chr3:56765649-56765650	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs552649551	chr3:56765674-56765675	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572812263	chr3:56765690-56765691	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	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
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	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 mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Renal cell carcinoma	18765545	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Lung adenocarcinoma	21935476	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:343 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:56753400-56766200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:56754400-56783200	Weak transcription	Stomach Mucosa	stomach
3	chr3:56755200-56781800	Weak transcription	NH-A	brain
4	chr3:56756400-56767200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr3:56756600-56766200	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr3:56756800-56781000	Weak transcription	Fetal Intestine Large	intestine
7	chr3:56757000-56786400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr3:56757200-56767200	Strong transcription	Fetal Muscle Trunk	muscle
9	chr3:56757200-56767400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr3:56757600-56792200	Weak transcription	Hela-S3	cervix
11	chr3:56758000-56768600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr3:56758000-56768800	Weak transcription	NHDF-Ad	bronchial
13	chr3:56758600-56766800	Strong transcription	HSMM	muscle
14	chr3:56758600-56767000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:56758600-56767000	Strong transcription	Lung	lung
16	chr3:56758600-56792200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr3:56758800-56764800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr3:56758800-56766400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr3:56758800-56766800	Strong transcription	Fetal Muscle Leg	muscle
20	chr3:56758800-56767000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr3:56758800-56767000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr3:56758800-56767400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr3:56758800-56770800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr3:56758800-56782800	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr3:56759000-56766600	Strong transcription	Adipose Nuclei	Adipose
26	chr3:56759000-56774400	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr3:56759400-56765600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr3:56759400-56784000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr3:56759600-56765800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr3:56759600-56773200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr3:56759800-56767200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr3:56759800-56779000	Weak transcription	Liver	Liver
33	chr3:56759800-56790400	Strong transcription	Dnd41	blood
34	chr3:56760000-56767000	Strong transcription	Primary hematopoietic stem cells	blood
35	chr3:56760000-56768600	Strong transcription	Thymus	Thymus
36	chr3:56760400-56766800	Strong transcription	Skeletal Muscle Male	skeletal muscle
37	chr3:56760400-56773200	Strong transcription	Primary B cells from cord blood	blood
38	chr3:56760600-56766200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr3:56760600-56766800	Strong transcription	Placenta	Placenta
40	chr3:56760600-56768000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr3:56760600-56769400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr3:56760800-56766400	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr3:56760800-56766400	Strong transcription	Fetal Brain Female	brain
44	chr3:56760800-56767000	Strong transcription	HepG2	liver
45	chr3:56760800-56773200	Strong transcription	Primary B cells from peripheral blood	blood
46	chr3:56760800-56783000	Weak transcription	Osteobl	bone
47	chr3:56760800-56788800	Strong transcription	Fetal Thymus	thymus
48	chr3:56761200-56765800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr3:56761200-56766200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
50	chr3:56761200-56767400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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