Variant report

Variant	esv3343000
Chromosome Location	chr11:18073370-18073900
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	chr11:18062974..18064641-chr11:18071715..18074662,2	K562	blood:

Variant related genes	Relation type
ENSG00000129167	chromatin interactions

Extended variants
information (count: 24 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566635625	chr11:18073373-18073374	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs370791671	chr11:18073406-18073407	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs7937368	chr11:18073429-18073430	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs577276551	chr11:18073522-18073523	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs367570443	chr11:18073543-18073544	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs537623425	chr11:18073630-18073631	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs185965156	chr11:18073663-18073664	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs191559875	chr11:18073666-18073667	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs181560953	chr11:18073676-18073677	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs560446918	chr11:18073678-18073679	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs552220958	chr11:18073692-18073693	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs571903340	chr11:18073712-18073713	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs545794141	chr11:18073732-18073733	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs563992759	chr11:18073761-18073762	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs569459977	chr11:18073762-18073763	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs570736347	chr11:18073803-18073804	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs543568598	chr11:18073827-18073828	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs563053657	chr11:18073834-18073835	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs186369573	chr11:18073847-18073848	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs538078540	chr11:18073874-18073875	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs548894903	chr11:18073882-18073883	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs35330709	chr11:18073885-18073886	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs397849313	chr11:18073891-18073892	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs567156003	chr11:18073897-18073898	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Lung adenocarcinoma	17086460	CNVD
Urothelial cell carcinoma	18451213	CNVD
Lung cancer	17086460	CNVD
Uterine serous papillary cancer	19536090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18068200-18073400	Weak transcription	Pancreas	Pancrea
2	chr11:18069000-18076400	Weak transcription	Aorta	Aorta
3	chr11:18070800-18102600	Weak transcription	Brain Hippocampus Middle	brain
4	chr11:18072200-18076600	Weak transcription	Gastric	stomach
5	chr11:18072600-18074000	Weak transcription	Primary B cells from peripheral blood	blood

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