Variant report

Variant	esv3376846
Chromosome Location	chr3:90495162-90499360
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 503 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:503 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140298010	chr3:90495172-90495173	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138842273	chr3:90495174-90495175	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149446397	chr3:90495185-90495186	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs117095903	chr3:90495190-90495191	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141100108	chr3:90495191-90495192	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138231238	chr3:90495204-90495205	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115347041	chr3:90495207-90495208	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369454284	chr3:90495213-90495214	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374912292	chr3:90495227-90495228	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556731854	chr3:90495229-90495230	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376476468	chr3:90495230-90495231	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144363236	chr3:90495235-90495236	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541998367	chr3:90495240-90495241	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201617422	chr3:90495242-90495243	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140481321	chr3:90495244-90495245	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146565274	chr3:90495264-90495265	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144444029	chr3:90495271-90495272	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527970660	chr3:90495317-90495318	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112834881	chr3:90495321-90495322	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374780623	chr3:90495322-90495323	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140143564	chr3:90495324-90495325	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112727597	chr3:90495337-90495338	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145218710	chr3:90495348-90495349	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142137232	chr3:90495352-90495353	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540236092	chr3:90495361-90495362	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559850569	chr3:90495363-90495364	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs137941847	chr3:90495366-90495367	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532257961	chr3:90495381-90495382	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146364903	chr3:90495386-90495387	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149776711	chr3:90495390-90495391	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551954418	chr3:90495391-90495392	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114599263	chr3:90495393-90495394	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150090262	chr3:90495401-90495402	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149620865	chr3:90495406-90495407	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139968677	chr3:90495407-90495408	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145048947	chr3:90495414-90495415	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146676968	chr3:90495416-90495417	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs137944842	chr3:90495418-90495419	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534764780	chr3:90495419-90495420	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147453761	chr3:90495423-90495424	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142590354	chr3:90495440-90495441	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146658540	chr3:90495442-90495443	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531581188	chr3:90495452-90495453	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143337929	chr3:90495456-90495457	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146361080	chr3:90495460-90495461	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141765240	chr3:90495461-90495462	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139414747	chr3:90495462-90495463	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs74493422	chr3:90495463-90495464	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200284933	chr3:90495466-90495467	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547747864	chr3:90495469-90495470	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:90486600-90504600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr3:90487600-90505000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr3:90490600-90496200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr3:90490600-90504000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:90491000-90498600	Weak transcription	HSMMtube	muscle
6	chr3:90492000-90496400	ZNF genes & repeats	Liver	Liver
7	chr3:90492600-90495200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr3:90493800-90497200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
9	chr3:90494600-90495400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr3:90494600-90495600	ZNF genes & repeats	Dnd41	blood
11	chr3:90495200-90495400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
12	chr3:90495200-90495400	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
13	chr3:90495200-90496400	ZNF genes & repeats	Stomach Mucosa	stomach
14	chr3:90495200-90499000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
15	chr3:90495400-90503600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr3:90496000-90496200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr3:90496000-90496200	ZNF genes & repeats	Brain Angular Gyrus	brain
18	chr3:90496000-90496200	ZNF genes & repeats	Fetal Heart	heart
19	chr3:90496000-90496200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
20	chr3:90496000-90496400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr3:90496000-90496400	ZNF genes & repeats	Left Ventricle	heart
22	chr3:90496400-90498400	Weak transcription	Left Ventricle	heart
23	chr3:90496400-90500800	Weak transcription	Stomach Mucosa	stomach
24	chr3:90498000-90499400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
25	chr3:90498200-90499000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
26	chr3:90498200-90499400	ZNF genes & repeats	Liver	Liver
27	chr3:90498200-90499800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr3:90498200-90500000	ZNF genes & repeats	Primary T cells from cord blood	blood
29	chr3:90498400-90499000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:90498400-90499000	ZNF genes & repeats	Left Ventricle	heart
31	chr3:90498400-90499800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
32	chr3:90498600-90498800	Active TSS	K562	blood
33	chr3:90498600-90499000	ZNF genes & repeats	Colon Smooth Muscle	Colon
34	chr3:90498600-90499000	ZNF genes & repeats	HSMMtube	muscle
35	chr3:90498600-90499000	ZNF genes & repeats	NH-A	brain
36	chr3:90498600-90499200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr3:90498600-90499800	ZNF genes & repeats	HUVEC	blood vessel

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