Variant report

Variant	esv3323345
Chromosome Location	chr3:90497062-90501360
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 496 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:496 , 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	rs185609232	chr3:90497079-90497080	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs13075406	chr3:90497082-90497083	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs542871076	chr3:90497101-90497102	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554004816	chr3:90497113-90497114	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371803757	chr3:90497117-90497118	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573215922	chr3:90497122-90497123	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545069453	chr3:90497137-90497138	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs199739874	chr3:90497181-90497182	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200828269	chr3:90497190-90497191	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201783009	chr3:90497219-90497220	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565417585	chr3:90497239-90497240	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530985381	chr3:90497242-90497243	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551199836	chr3:90497249-90497250	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561441144	chr3:90497255-90497256	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553168106	chr3:90497256-90497257	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530435171	chr3:90497257-90497258	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547308073	chr3:90497264-90497265	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567034960	chr3:90497276-90497277	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192904233	chr3:90497282-90497283	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs199960083	chr3:90497291-90497292	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551046962	chr3:90497294-90497295	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571010748	chr3:90497300-90497301	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377102262	chr3:90497301-90497302	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187278487	chr3:90497307-90497308	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184368854	chr3:90497310-90497311	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190953113	chr3:90497330-90497331	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201552400	chr3:90497335-90497336	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375103596	chr3:90497356-90497357	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369429573	chr3:90497360-90497361	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183094051	chr3:90497381-90497382	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373932553	chr3:90497382-90497383	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187600932	chr3:90497383-90497384	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200148966	chr3:90497385-90497386	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200807599	chr3:90497392-90497393	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188871504	chr3:90497396-90497397	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs137935020	chr3:90497399-90497400	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192806316	chr3:90497400-90497401	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200048908	chr3:90497411-90497412	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536036087	chr3:90497430-90497431	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553278252	chr3:90497442-90497443	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573045005	chr3:90497455-90497456	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377053029	chr3:90497463-90497464	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200939627	chr3:90497466-90497467	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62266068	chr3:90497467-90497468	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs558946119	chr3:90497478-90497479	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181193082	chr3:90497481-90497482	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544685348	chr3:90497498-90497499	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561354377	chr3:90497522-90497523	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs202116598	chr3:90497527-90497528	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530347662	chr3:90497529-90497530	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:26 , 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	chr3:90490600-90504000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:90491000-90498600	Weak transcription	HSMMtube	muscle
5	chr3:90493800-90497200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr3:90495200-90499000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
7	chr3:90495400-90503600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:90496400-90498400	Weak transcription	Left Ventricle	heart
9	chr3:90496400-90500800	Weak transcription	Stomach Mucosa	stomach
10	chr3:90498000-90499400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
11	chr3:90498200-90499000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
12	chr3:90498200-90499400	ZNF genes & repeats	Liver	Liver
13	chr3:90498200-90499800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr3:90498200-90500000	ZNF genes & repeats	Primary T cells from cord blood	blood
15	chr3:90498400-90499000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:90498400-90499000	ZNF genes & repeats	Left Ventricle	heart
17	chr3:90498400-90499800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
18	chr3:90498600-90498800	Active TSS	K562	blood
19	chr3:90498600-90499000	ZNF genes & repeats	Colon Smooth Muscle	Colon
20	chr3:90498600-90499000	ZNF genes & repeats	HSMMtube	muscle
21	chr3:90498600-90499000	ZNF genes & repeats	NH-A	brain
22	chr3:90498600-90499200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:90498600-90499800	ZNF genes & repeats	HUVEC	blood vessel
24	chr3:90499600-90504000	ZNF genes & repeats	Liver	Liver
25	chr3:90499800-90501000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr3:90501000-90502400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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