Variant report

Variant	esv3342086
Chromosome Location	chr3:90031311-90059516
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 685 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:685 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139886050	chr3:90045024-90045025	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs377250277	chr3:90045037-90045038	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs534616507	chr3:90045052-90045053	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs546240005	chr3:90045053-90045054	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs566076178	chr3:90045087-90045088	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs371396429	chr3:90045113-90045114	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs539720177	chr3:90045125-90045126	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs551351730	chr3:90045226-90045227	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs576244125	chr3:90045241-90045242	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs142920938	chr3:90045254-90045255	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs191442766	chr3:90045294-90045295	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs368461711	chr3:90045306-90045307	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs559486503	chr3:90045307-90045308	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs527630392	chr3:90045320-90045321	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs578020996	chr3:90045323-90045324	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs151097083	chr3:90045324-90045325	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs114678985	chr3:90045336-90045337	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs530750966	chr3:90045340-90045341	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs549072961	chr3:90045378-90045379	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs548859632	chr3:90045396-90045397	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs141089553	chr3:90045402-90045403	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs528168706	chr3:90045443-90045444	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs62276236	chr3:90045471-90045472	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs150262075	chr3:90045478-90045479	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs115675103	chr3:90045493-90045494	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs182530543	chr3:90045499-90045500	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs373890029	chr3:90045504-90045505	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs567459811	chr3:90045507-90045508	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs551679494	chr3:90045546-90045547	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs566250228	chr3:90045551-90045552	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs535225039	chr3:90045555-90045556	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs56919964	chr3:90045557-90045558	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs537952404	chr3:90045563-90045564	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs556746383	chr3:90045580-90045581	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs79555836	chr3:90045605-90045606	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372540318	chr3:90045630-90045631	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534787511	chr3:90045646-90045647	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185375232	chr3:90045649-90045650	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571734585	chr3:90045672-90045673	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545394582	chr3:90045673-90045674	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141496031	chr3:90045731-90045732	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147038946	chr3:90045777-90045778	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542850427	chr3:90045784-90045785	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138387450	chr3:90045805-90045806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554477512	chr3:90045824-90045825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs57742239	chr3:90045828-90045829	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs564610323	chr3:90045854-90045855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575664231	chr3:90045859-90045860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs60759458	chr3:90045885-90045886	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs148256399	chr3:90045890-90045891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Chronic lymphocytic leukemia	21546498	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
Bipolar disorder	19114987	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:90045000-90045600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
2	chr3:90045000-90045600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr3:90045000-90045600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:90045200-90045800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
5	chr3:90045600-90054600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:90052800-90053000	Enhancers	Fetal Heart	heart
7	chr3:90052800-90053800	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr3:90053000-90054200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr3:90053000-90056800	Weak transcription	Fetal Heart	heart
10	chr3:90053200-90053800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr3:90053200-90053800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr3:90053200-90053800	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr3:90053800-90056400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr3:90053800-90056800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr3:90053800-90056800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr3:90054200-90056800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr3:90054600-90054800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr3:90056200-90058000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr3:90056200-90058000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr3:90056400-90056800	Enhancers	HSMM	muscle
21	chr3:90056400-90056800	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr3:90056400-90057200	Enhancers	Fetal Lung	lung
23	chr3:90056400-90057600	Enhancers	Fetal Brain Male	brain
24	chr3:90056400-90058000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr3:90056400-90058400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr3:90056600-90057000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr3:90056600-90058000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr3:90056600-90058000	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr3:90056800-90057000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr3:90056800-90057000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr3:90056800-90057000	Flanking Active TSS	HSMM	muscle
32	chr3:90056800-90057200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr3:90056800-90057200	Enhancers	HSMMtube	muscle
34	chr3:90056800-90057400	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr3:90056800-90057400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr3:90056800-90057400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr3:90056800-90057400	Enhancers	Rectal Smooth Muscle	rectum
38	chr3:90056800-90057600	Enhancers	NHDF-Ad	bronchial
39	chr3:90056800-90057800	Enhancers	Fetal Stomach	stomach
40	chr3:90056800-90058000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr3:90056800-90058200	Enhancers	Fetal Heart	heart
42	chr3:90057000-90057200	Enhancers	Aorta	Aorta
43	chr3:90057000-90057200	Enhancers	HSMM	muscle
44	chr3:90057000-90057400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr3:90057000-90057400	Active TSS	Stomach Smooth Muscle	stomach
46	chr3:90057000-90057600	Enhancers	Stomach Mucosa	stomach
47	chr3:90057000-90057800	Enhancers	Fetal Brain Female	brain
48	chr3:90057000-90057800	Enhancers	Ovary	ovary
49	chr3:90057000-90058200	Enhancers	Colon Smooth Muscle	Colon
50	chr3:90057000-90058400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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