Variant report

Variant	esv3364280
Chromosome Location	chr18:11364152-11367350
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	chr1:151965186..151965687-chr18:11365448..11365948,2	Hela-S3	cervix:
2	chr18:11365422..11368107-chr18:11369028..11370592,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PIEZO2-3	chr18:11366766-11367446	XLOC_012768
2	lnc-PIEZO2-3	chr18:11366912-11367446	ENSG00000267051.1
3	lnc-PIEZO2-3	chr18:11367164-11367446	NONHSAT057297

Variant related genes	Relation type
TGFBR2	miRNA target sites

Extended variants
information (count: 136 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138072027	chr18:11364162-11364163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs76422912	chr18:11364165-11364166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs56211610	chr18:11364166-11364167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563520305	chr18:11364216-11364217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566246026	chr18:11364242-11364243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530669534	chr18:11364297-11364298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545700775	chr18:11364334-11364335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78169252	chr18:11364364-11364365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532399268	chr18:11364388-11364389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189433869	chr18:11364461-11364462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540011379	chr18:11364503-11364504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566005610	chr18:11364593-11364594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs145030901	chr18:11364601-11364602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548450051	chr18:11364602-11364603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570244161	chr18:11364603-11364604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537733707	chr18:11364611-11364612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552954375	chr18:11364664-11364665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570438432	chr18:11364719-11364720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs180779879	chr18:11364752-11364753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371425240	chr18:11364773-11364774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186009305	chr18:11364776-11364777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs574419081	chr18:11364790-11364791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189727242	chr18:11364851-11364852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181279517	chr18:11364867-11364868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113026052	chr18:11364876-11364877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs202234013	chr18:11364897-11364898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570326904	chr18:11364950-11364951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186794995	chr18:11364956-11364957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572818236	chr18:11364966-11364967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374517758	chr18:11365017-11365018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs61225163	chr18:11365031-11365032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs367808506	chr18:11365050-11365051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10083976	chr18:11365074-11365075	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs138886273	chr18:11365078-11365079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563729162	chr18:11365079-11365080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191553923	chr18:11365124-11365125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554349315	chr18:11365153-11365154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4797530	chr18:11365173-11365174	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs149341587	chr18:11365188-11365189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372023374	chr18:11365220-11365221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183207744	chr18:11365225-11365226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546231747	chr18:11365256-11365257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568057571	chr18:11365263-11365264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535189996	chr18:11365281-11365282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs8082930	chr18:11365282-11365283	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs575081358	chr18:11365288-11365289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191180185	chr18:11365294-11365295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs557553141	chr18:11365299-11365300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs553433994	chr18:11365305-11365306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572074966	chr18:11365347-11365348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Breast cancer	21785460	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Glioma	17123091	CNVD
Neurodevelopmental disorder	22521361	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11361200-11364400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr18:11364400-11369400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr18:11364800-11365000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr18:11365000-11366000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr18:11365200-11366400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr18:11366000-11366200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr18:11366000-11366200	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr18:11366000-11366400	Enhancers	HSMMtube	muscle
9	chr18:11366000-11367400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr18:11366000-11367800	Enhancers	Fetal Heart	heart
11	chr18:11366000-11367800	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr18:11366200-11366400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr18:11366200-11366400	Enhancers	Osteobl	bone
14	chr18:11366200-11366600	Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr18:11366200-11367000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr18:11366200-11367200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr18:11366200-11368200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr18:11366200-11368600	Enhancers	HSMM	muscle
19	chr18:11366400-11366800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr18:11366400-11366800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr18:11366400-11366800	Enhancers	NH-A	brain
22	chr18:11366400-11366800	Enhancers	NHLF	lung
23	chr18:11366400-11366800	Flanking Active TSS	Osteobl	bone
24	chr18:11366400-11367000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr18:11366400-11367000	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr18:11366400-11367000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr18:11366400-11367000	Flanking Active TSS	HSMMtube	muscle
28	chr18:11366400-11367400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr18:11366400-11367400	Enhancers	Hela-S3	cervix
30	chr18:11366400-11367600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr18:11366400-11367600	Enhancers	Fetal Muscle Leg	muscle
32	chr18:11366400-11367800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr18:11366400-11368400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr18:11366400-11368800	Enhancers	NHDF-Ad	bronchial
35	chr18:11366600-11368000	Enhancers	Psoas Muscle	Psoas
36	chr18:11366600-11368200	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr18:11366800-11367200	Enhancers	Brain Cingulate Gyrus	brain
38	chr18:11366800-11367600	Enhancers	Osteobl	bone
39	chr18:11367000-11367400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr18:11367000-11367600	Enhancers	HSMMtube	muscle
41	chr18:11367000-11368200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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