Variant report

Variant	nsv511600
Chromosome Location	chr18:12502514-12505089
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 105 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559719	chr18:12502514-12502515	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs370710655	chr18:12502521-12502522	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs137960741	chr18:12502621-12502622	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189906539	chr18:12502656-12502657	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9947085	chr18:12502665-12502666	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs79466439	chr18:12502669-12502670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114048385	chr18:12502675-12502676	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563312946	chr18:12502726-12502727	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144606203	chr18:12502730-12502731	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549734809	chr18:12502741-12502742	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs36109961	chr18:12502753-12502754	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs533506211	chr18:12502771-12502772	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568562018	chr18:12502791-12502792	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181168535	chr18:12502793-12502794	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535518695	chr18:12502818-12502819	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567215710	chr18:12502835-12502836	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534840635	chr18:12502836-12502837	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572405523	chr18:12502904-12502905	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571218394	chr18:12502973-12502974	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568908999	chr18:12503006-12503007	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539773371	chr18:12503033-12503034	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558015443	chr18:12503036-12503037	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573167891	chr18:12503050-12503051	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540845615	chr18:12503064-12503065	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186354054	chr18:12503069-12503070	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573686502	chr18:12503070-12503071	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543960086	chr18:12503087-12503088	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562512395	chr18:12503101-12503102	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs112551922	chr18:12503117-12503118	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs200503459	chr18:12503118-12503119	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1785302	chr18:12503129-12503130	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs75453253	chr18:12503204-12503205	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541527789	chr18:12503228-12503229	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561116678	chr18:12503229-12503230	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566546133	chr18:12503325-12503326	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138366531	chr18:12503326-12503327	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191655554	chr18:12503327-12503328	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112630220	chr18:12503332-12503333	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534035109	chr18:12503333-12503334	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558558256	chr18:12503346-12503347	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577097451	chr18:12503361-12503362	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114136819	chr18:12503409-12503410	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs556837434	chr18:12503411-12503412	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs556153526	chr18:12503418-12503419	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs529436707	chr18:12503422-12503423	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs183590134	chr18:12503441-12503442	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs188977611	chr18:12503457-12503458	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs539464854	chr18:12503475-12503476	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs116401934	chr18:12503540-12503541	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs567159815	chr18:12503542-12503543	Weak transcription Strong transcription ZNF genes & repeats	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
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
small cell lung cancer	20016488	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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:143 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12460200-12516600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr18:12478400-12512600	Weak transcription	Fetal Intestine Small	intestine
3	chr18:12478600-12506400	Weak transcription	Right Ventricle	heart
4	chr18:12478600-12510800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr18:12478800-12504800	Weak transcription	Gastric	stomach
6	chr18:12478800-12505800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr18:12478800-12514200	Weak transcription	NH-A	brain
8	chr18:12478800-12515800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr18:12478800-12515800	Weak transcription	Placenta	Placenta
10	chr18:12478800-12551800	Weak transcription	Pancreas	Pancrea
11	chr18:12480800-12511000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr18:12486200-12504600	Weak transcription	HMEC	breast
13	chr18:12490200-12503400	Weak transcription	Brain Angular Gyrus	brain
14	chr18:12490400-12502800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr18:12491600-12510800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr18:12492000-12504800	Weak transcription	Aorta	Aorta
17	chr18:12492200-12530400	Weak transcription	HepG2	liver
18	chr18:12492200-12532800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr18:12492200-12548600	Weak transcription	Fetal Kidney	kidney
20	chr18:12492400-12504800	Weak transcription	Brain Hippocampus Middle	brain
21	chr18:12492400-12515600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr18:12492600-12504800	Weak transcription	Fetal Heart	heart
23	chr18:12492800-12510800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr18:12493000-12541200	Weak transcription	NHEK	skin
25	chr18:12493200-12506400	Weak transcription	Left Ventricle	heart
26	chr18:12493200-12510800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr18:12493200-12512600	Weak transcription	Fetal Brain Male	brain
28	chr18:12493200-12518400	Weak transcription	Esophagus	oesophagus
29	chr18:12493200-12520000	Weak transcription	Colon Smooth Muscle	Colon
30	chr18:12493200-12520400	Weak transcription	Psoas Muscle	Psoas
31	chr18:12493200-12551800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr18:12493400-12515800	Weak transcription	Brain Substantia Nigra	brain
33	chr18:12493800-12504800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr18:12494000-12503200	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr18:12494000-12515000	Weak transcription	Fetal Lung	lung
36	chr18:12494200-12504800	Weak transcription	Brain Anterior Caudate	brain
37	chr18:12494200-12515000	Weak transcription	HUVEC	blood vessel
38	chr18:12494400-12503200	Weak transcription	HSMMtube	muscle
39	chr18:12494400-12515600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr18:12494600-12502800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr18:12494600-12503200	Weak transcription	Fetal Muscle Leg	muscle
42	chr18:12495400-12503200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr18:12495400-12515800	Weak transcription	NHDF-Ad	bronchial
44	chr18:12495800-12503200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr18:12495800-12503200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr18:12495800-12503200	Weak transcription	Fetal Muscle Trunk	muscle
47	chr18:12495800-12503200	Weak transcription	Ovary	ovary
48	chr18:12495800-12504800	Weak transcription	Brain Germinal Matrix	brain
49	chr18:12496000-12502800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr18:12496000-12503200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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