Variant report

Variant	esv275400
Chromosome Location	chr18:8288568-8290747
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:8286081..8288713-chr18:8292383..8293972,2	K562	blood:
2	chr18:8290482..8292499-chr18:8294352..8296889,2	K562	blood:
3	chr18:8289500..8292499-chr18:8294352..8295953,2	K562	blood:

Extended variants
information (count: 130 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9948041	chr18:8288568-8288569	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs189516183	chr18:8288601-8288602	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143997311	chr18:8288613-8288614	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192037061	chr18:8288711-8288712	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574746419	chr18:8288757-8288758	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569128004	chr18:8288762-8288763	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542162980	chr18:8288773-8288774	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557361436	chr18:8288798-8288799	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575570935	chr18:8288838-8288839	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184632825	chr18:8288843-8288844	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs28715557	chr18:8288854-8288855	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs56918394	chr18:8288870-8288871	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540380389	chr18:8288894-8288895	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188623783	chr18:8288903-8288904	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529517398	chr18:8288944-8288945	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550841228	chr18:8288955-8288956	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148274317	chr18:8288976-8288977	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530519103	chr18:8289020-8289021	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551934229	chr18:8289024-8289025	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570482946	chr18:8289051-8289052	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181573976	chr18:8289075-8289076	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546786595	chr18:8289082-8289083	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs28638275	chr18:8289157-8289158	Genic enhancers Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs117434218	chr18:8289158-8289159	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141320926	chr18:8289223-8289224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185955872	chr18:8289232-8289233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189281654	chr18:8289313-8289314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112374883	chr18:8289331-8289332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs180895845	chr18:8289348-8289349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs186123642	chr18:8289367-8289368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113936197	chr18:8289386-8289387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs72061179	chr18:8289397-8289398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10221316	chr18:8289398-8289399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553540449	chr18:8289406-8289407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs200662370	chr18:8289414-8289415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576165886	chr18:8289419-8289420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs370667427	chr18:8289440-8289441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs10221393	chr18:8289441-8289442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182813300	chr18:8289457-8289458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374377295	chr18:8289466-8289467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs71356205	chr18:8289471-8289472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs149546292	chr18:8289472-8289473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs60714665	chr18:8289475-8289476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370535017	chr18:8289476-8289477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs563194245	chr18:8289478-8289479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186020013	chr18:8289488-8289489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552112931	chr18:8289500-8289501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541503882	chr18:8289501-8289502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190087598	chr18:8289510-8289511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs201077271	chr18:8289512-8289513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
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
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
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	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
Breast cancer	17133270	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute myeloid leukemia	17377590	CNVD
Schizophrenia	20838587	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8191200-8288600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr18:8245400-8288600	Weak transcription	Aorta	Aorta
3	chr18:8265400-8296600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr18:8270800-8297400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr18:8275200-8296400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr18:8280800-8288600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr18:8281400-8288600	Weak transcription	Fetal Heart	heart
8	chr18:8281400-8288800	Weak transcription	Fetal Brain Male	brain
9	chr18:8281600-8288800	Weak transcription	Spleen	Spleen
10	chr18:8284600-8288800	Weak transcription	Adipose Nuclei	Adipose
11	chr18:8284600-8288800	Weak transcription	Fetal Stomach	stomach
12	chr18:8284600-8298800	Weak transcription	HepG2	liver
13	chr18:8284600-8300600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr18:8284800-8296200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr18:8284800-8296400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr18:8284800-8296600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr18:8284800-8301000	Weak transcription	Osteobl	bone
18	chr18:8285600-8292800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr18:8286200-8289200	Enhancers	Fetal Lung	lung
20	chr18:8286400-8296200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr18:8286400-8298400	Weak transcription	Gastric	stomach
22	chr18:8286600-8291000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr18:8286600-8292000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr18:8286800-8296400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr18:8287000-8289200	Enhancers	Fetal Muscle Leg	muscle
26	chr18:8287200-8289200	Enhancers	Pancreas	Pancrea
27	chr18:8287400-8289000	Enhancers	Psoas Muscle	Psoas
28	chr18:8287400-8289200	Enhancers	Left Ventricle	heart
29	chr18:8287400-8296600	Weak transcription	Thymus	Thymus
30	chr18:8287800-8288800	Weak transcription	Brain Anterior Caudate	brain
31	chr18:8287800-8289200	Enhancers	Lung	lung
32	chr18:8287800-8306800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr18:8288200-8289200	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr18:8288200-8289200	Enhancers	Fetal Muscle Trunk	muscle
35	chr18:8288200-8289600	Enhancers	Brain Germinal Matrix	brain
36	chr18:8288200-8292200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr18:8288200-8292600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr18:8288400-8289000	Weak transcription	Fetal Brain Female	brain
39	chr18:8288400-8289200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr18:8288400-8289200	Enhancers	Fetal Kidney	kidney
41	chr18:8288400-8289200	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr18:8288400-8290000	Enhancers	Right Atrium	heart
43	chr18:8288400-8297800	Weak transcription	A549	lung
44	chr18:8288600-8289000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr18:8288600-8289200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr18:8288600-8289200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr18:8288600-8289200	Genic enhancers	Aorta	Aorta
48	chr18:8288600-8289200	Enhancers	Brain Substantia Nigra	brain
49	chr18:8288600-8289200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr18:8288600-8289200	Enhancers	Fetal Heart	heart

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