Variant report

Variant	esv3448702
Chromosome Location	chr3:84270311-84292634
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:84287116..84289415-chr3:85550323..85553207,2	K562	blood:
2	chr3:84291635..84294526-chr3:84360495..84362082,2	K562	blood:
3	chr3:84272012..84274831-chr3:84277558..84279788,3	K562	blood:
4	chr3:84291765..84296920-chr3:85550637..85554814,6	K562	blood:
5	chr3:84273214..84274831-chr3:84277558..84279173,2	K562	blood:
6	chr3:84273214..84274831-chr3:84277558..84279173,2	K562	blood:
7	chr3:84288330..84291285-chr3:84300301..84302575,2	K562	blood:
8	chr3:84272012..84274831-chr3:84277558..84279788,3	K562	blood:

No data

Extended variants
information (count: 326 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:326 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185331276	chr3:84270615-84270616	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs570781462	chr3:84270635-84270636	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs531596236	chr3:84270638-84270639	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs77893593	chr3:84270653-84270654	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs568439087	chr3:84270666-84270667	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs536088742	chr3:84270670-84270671	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs190091327	chr3:84270698-84270699	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs530743027	chr3:84270707-84270708	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs207463270	chr3:84270724-84270725	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs181341548	chr3:84270732-84270733	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs527963501	chr3:84270736-84270737	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs550850284	chr3:84270768-84270769	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs540098473	chr3:84270804-84270805	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs186865755	chr3:84270826-84270827	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs73125304	chr3:84270828-84270829	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs114259301	chr3:84270830-84270831	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs556261543	chr3:84270840-84270841	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs538832506	chr3:84270856-84270857	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs4276195	chr3:84270877-84270878	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs4564992	chr3:84270883-84270884	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs191691630	chr3:84270900-84270901	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs545729652	chr3:84270943-84270944	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs564221016	chr3:84270954-84270955	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs183984071	chr3:84270975-84270976	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs566546916	chr3:84270986-84270987	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs549891020	chr3:84271062-84271063	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs550248884	chr3:84271084-84271085	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs187909525	chr3:84271088-84271089	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs568555685	chr3:84271101-84271102	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs189695511	chr3:84271121-84271122	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs548020471	chr3:84271133-84271134	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs148042749	chr3:84271151-84271152	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs540036292	chr3:84271166-84271167	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs140486591	chr3:84271190-84271191	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs368305939	chr3:84271193-84271194	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs570240660	chr3:84271232-84271233	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs12496287	chr3:84271245-84271246	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs115031269	chr3:84271268-84271269	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs574196620	chr3:84271328-84271329	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs541482032	chr3:84271340-84271341	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs553438237	chr3:84271356-84271357	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs537388548	chr3:84271388-84271389	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs571953590	chr3:84271431-84271432	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs557621753	chr3:84271439-84271440	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs545572101	chr3:84271450-84271451	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs182047591	chr3:84271453-84271454	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs576222475	chr3:84271458-84271459	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs141453453	chr3:84271469-84271470	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs397976910	chr3:84271477-84271478	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs61049720	chr3:84271522-84271523	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	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
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	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
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Medulloblastoma	16783165	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:84270600-84274400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:84273800-84274200	Enhancers	K562	blood
3	chr3:84282600-84283600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:84285400-84285800	Active TSS	A549	lung
5	chr3:84287200-84287600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:84289400-84297800	Active TSS	K562	blood

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