Variant report

Variant	esv3356812
Chromosome Location	chr3:90374462-90379060
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 464 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:464 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543952059	chr3:90374464-90374465	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs560740595	chr3:90374465-90374466	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs529799967	chr3:90374468-90374469	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs541056787	chr3:90374469-90374470	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs200603003	chr3:90374474-90374475	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs560159324	chr3:90374482-90374483	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs202043458	chr3:90374487-90374488	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs377231606	chr3:90374501-90374502	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs190286550	chr3:90374502-90374503	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs145971551	chr3:90374513-90374514	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs142351338	chr3:90374516-90374517	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs569259748	chr3:90374518-90374519	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs138605717	chr3:90374519-90374520	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs529194667	chr3:90374535-90374536	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs148311302	chr3:90374536-90374537	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs76071242	chr3:90374571-90374572	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs548737488	chr3:90374572-90374573	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs78332788	chr3:90374581-90374582	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs568573407	chr3:90374586-90374587	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs141416423	chr3:90374588-90374589	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs554362227	chr3:90374599-90374600	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs75039503	chr3:90374605-90374606	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs560073249	chr3:90374606-90374607	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs571043384	chr3:90374609-90374610	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs181088995	chr3:90374629-90374630	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs370729922	chr3:90374665-90374666	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs558265572	chr3:90374729-90374730	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs533659152	chr3:90374742-90374743	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs543815620	chr3:90374766-90374767	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs112264845	chr3:90374773-90374774	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs75368624	chr3:90374783-90374784	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs112202456	chr3:90374794-90374795	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs62276579	chr3:90374801-90374802	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs62276580	chr3:90374808-90374809	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs554196313	chr3:90374826-90374827	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs62276581	chr3:90374841-90374842	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs113603682	chr3:90374846-90374847	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs62276582	chr3:90374849-90374850	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs62276583	chr3:90374855-90374856	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs201192059	chr3:90374857-90374858	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs574214296	chr3:90374867-90374868	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs201944092	chr3:90374874-90374875	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs113042229	chr3:90374881-90374882	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs547467020	chr3:90374891-90374892	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs200243568	chr3:90374896-90374897	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs567165121	chr3:90374948-90374949	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs569186036	chr3:90374986-90374987	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs75072645	chr3:90374989-90374990	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs560329000	chr3:90374992-90374993	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs532280706	chr3:90375007-90375008	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
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
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	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
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Soft tissue tumor	16732325	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD
Lung cancer	19547694	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:90367200-90377600	Weak transcription	NH-A	brain
2	chr3:90369000-90377600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:90369000-90377600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr3:90369000-90377600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr3:90369000-90377600	Weak transcription	Fetal Kidney	kidney
6	chr3:90373400-90378000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:90374800-90375000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:90374800-90376000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr3:90375400-90375600	Enhancers	Placenta Amnion	Placenta Amnion
10	chr3:90375400-90380400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
11	chr3:90376200-90382800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
12	chr3:90377200-90377800	Active TSS	Aorta	Aorta
13	chr3:90377400-90377800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr3:90377400-90377800	ZNF genes & repeats	Brain Hippocampus Middle	brain
15	chr3:90377400-90379600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
16	chr3:90377600-90377800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
17	chr3:90377600-90377800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:90377600-90377800	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 2	blood
19	chr3:90377600-90377800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
20	chr3:90377600-90377800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
21	chr3:90377600-90377800	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
22	chr3:90377600-90377800	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr3:90377600-90377800	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
24	chr3:90377600-90377800	ZNF genes & repeats	Liver	Liver
25	chr3:90377600-90377800	ZNF genes & repeats	Brain Anterior Caudate	brain
26	chr3:90377600-90377800	ZNF genes & repeats	Brain Substantia Nigra	brain
27	chr3:90377600-90377800	ZNF genes & repeats	Colonic Mucosa	Colon
28	chr3:90377600-90377800	ZNF genes & repeats	Fetal Kidney	kidney
29	chr3:90377600-90377800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
30	chr3:90377600-90377800	ZNF genes & repeats	Small Intestine	intestine
31	chr3:90377600-90377800	Enhancers	Thymus	Thymus
32	chr3:90377600-90377800	ZNF genes & repeats	NH-A	brain
33	chr3:90377600-90378000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr3:90377600-90378000	ZNF genes & repeats	Rectal Smooth Muscle	rectum
35	chr3:90377800-90378400	Weak transcription	NH-A	brain
36	chr3:90377800-90379400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr3:90377800-90381400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr3:90378000-90379400	Weak transcription	Rectal Smooth Muscle	rectum

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