Variant report

Variant	esv3349069
Chromosome Location	chr3:85552632-85552837
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:85509846..85512397-chr3:85550866..85553089,2	K562	blood:
2	chr3:84291765..84296920-chr3:85550637..85554814,6	K562	blood:
3	chr3:85522328..85524379-chr3:85551882..85554402,2	K562	blood:
4	chr3:84287116..84289415-chr3:85550323..85553207,2	K562	blood:
5	chr3:84609476..84611998-chr3:85551707..85553249,2	K562	blood:
6	chr3:85439579..85441215-chr3:85551442..85553756,2	K562	blood:
7	chr3:85551480..85554348-chr3:85623401..85624978,2	K562	blood:
8	chr3:84994697..84996927-chr3:85551100..85552839,2	K562	blood:
9	chr3:85528291..85540418-chr3:85548148..85554862,16	K562	blood:
10	chr3:85550792..85552939-chr3:85620775..85622757,2	K562	blood:
11	chr3:85525792..85532904-chr3:85548163..85554926,11	K562	blood:
12	chr3:85550694..85553715-chr3:85562655..85565189,4	K562	blood:
13	chr3:85520722..85524381-chr3:85549502..85554850,5	K562	blood:
14	chr3:85486960..85489003-chr3:85551718..85553697,2	K562	blood:

No data

Extended variants
information (count: 11 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550799010	chr3:85552632-85552633	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs374424307	chr3:85552717-85552718	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs547046422	chr3:85552733-85552734	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs139283229	chr3:85552768-85552769	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs190785363	chr3:85552772-85552773	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs567330347	chr3:85552773-85552774	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs558083442	chr3:85552778-85552779	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs4637303	chr3:85552787-85552788	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs112671046	chr3:85552803-85552804	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142635032	chr3:85552808-85552809	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183164358	chr3:85552810-85552811	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	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
Lung squamous cell carcinoma	22363434	CNVD
Prostate cancer	21307934	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85545000-85569000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr3:85550400-85557200	Active TSS	K562	blood
3	chr3:85552800-85554800	Active TSS	ES-I3 Cell Line	embryonic stem cell

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