Variant report

Variant	esv3347952
Chromosome Location	chr11:18074651-18077199
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:18062974..18064641-chr11:18071715..18074662,2	K562	blood:
2	chr11:18070729..18072614-chr11:18074865..18077742,2	K562	blood:
3	chr11:18033001..18035448-chr11:18075217..18077710,2	K562	blood:

Variant related genes	Relation type
ENSG00000129158	chromatin interactions
ENSG00000129167	chromatin interactions

Extended variants
information (count: 119 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369893188	chr11:18074669-18074670	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138609701	chr11:18074675-18074676	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530270355	chr11:18074676-18074677	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182358374	chr11:18074682-18074683	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576995251	chr11:18074692-18074693	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560588726	chr11:18074698-18074699	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527965514	chr11:18074761-18074762	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552630928	chr11:18074762-18074763	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149371442	chr11:18074769-18074770	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186742524	chr11:18074799-18074800	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549819028	chr11:18074850-18074851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568227391	chr11:18074851-18074852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544458637	chr11:18074859-18074860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535239371	chr11:18074868-18074869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147495974	chr11:18074911-18074912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565763256	chr11:18075069-18075070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139863036	chr11:18075078-18075079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567650	chr11:18075092-18075093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111509877	chr11:18075093-18075094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576101472	chr11:18075174-18075175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543444912	chr11:18075213-18075214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9737131	chr11:18075214-18075215	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs144348377	chr11:18075219-18075220	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs183359135	chr11:18075228-18075229	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs542028534	chr11:18075338-18075339	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs562700525	chr11:18075346-18075347	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs78053689	chr11:18075354-18075355	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs12799206	chr11:18075383-18075384	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs111852058	chr11:18075392-18075393	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs188825408	chr11:18075402-18075403	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs200339282	chr11:18075425-18075426	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs192923654	chr11:18075442-18075443	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs141619345	chr11:18075477-18075478	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs71483494	chr11:18075479-18075480	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs147058290	chr11:18075529-18075530	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs56780088	chr11:18075538-18075539	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs367984663	chr11:18075595-18075596	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs185090534	chr11:18075620-18075621	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs59003043	chr11:18075633-18075634	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs531560259	chr11:18075744-18075745	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs372074427	chr11:18075751-18075752	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs377295781	chr11:18075754-18075755	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs376992569	chr11:18075763-18075764	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs369642652	chr11:18075767-18075768	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs372526488	chr11:18075778-18075779	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs370911984	chr11:18075787-18075788	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs375804383	chr11:18075801-18075802	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs191538805	chr11:18075806-18075807	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs183741941	chr11:18075808-18075809	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs375796730	chr11:18075812-18075813	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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18069000-18076400	Weak transcription	Aorta	Aorta
2	chr11:18070800-18102600	Weak transcription	Brain Hippocampus Middle	brain
3	chr11:18072200-18076600	Weak transcription	Gastric	stomach
4	chr11:18074600-18074800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:18076200-18077000	Enhancers	Stomach Mucosa	stomach
6	chr11:18076400-18077600	Enhancers	Aorta	Aorta
7	chr11:18076600-18077000	Enhancers	Gastric	stomach
8	chr11:18076800-18077000	Enhancers	Fetal Intestine Large	intestine
9	chr11:18077000-18078200	Weak transcription	Stomach Mucosa	stomach

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