Variant report

Variant	esv3433996
Chromosome Location	chr3:88269369-88269928
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:88260406..88263324-chr3:88267583..88270282,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532629843	chr3:88269385-88269386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs115068285	chr3:88269399-88269400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532264818	chr3:88269436-88269437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6785560	chr3:88269441-88269442	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs180726396	chr3:88269464-88269465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566731064	chr3:88269528-88269529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs386663252	chr3:88269548-88269549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78390922	chr3:88269583-88269584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576902060	chr3:88269701-88269702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149585960	chr3:88269730-88269731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185990622	chr3:88269736-88269737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574452659	chr3:88269788-88269789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192099154	chr3:88269816-88269817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560443613	chr3:88269892-88269893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147281299	chr3:88269898-88269899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs386663253	chr3:88269913-88269914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11278495	chr3:88269924-88269925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs57285707	chr3:88269926-88269927	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
Acute lymphoblastic leukemia	20435627	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
Wilms tumour	21544195	CNVD
Soft tissue tumor	16732325	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD
Non-small cell lung cancer	21829676	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:88253400-88278200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr3:88268600-88274400	Weak transcription	Brain Hippocampus Middle	brain
3	chr3:88268600-88274400	Weak transcription	Brain Substantia Nigra	brain
4	chr3:88269000-88269400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr3:88269400-88270800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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