Variant report

Variant	esv2752373
Chromosome Location	chr18:8298090-8307219
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	chr18:8301404..8302990-chr18:8304667..8306906,2	K562	blood:
2	chr18:8301404..8302990-chr18:8304667..8306906,2	K562	blood:

Extended variants
information (count: 410 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:410 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561064603	chr18:8298091-8298092	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140992004	chr18:8298095-8298096	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543502409	chr18:8298171-8298172	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565332581	chr18:8298206-8298207	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532661986	chr18:8298224-8298225	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77348379	chr18:8298225-8298226	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs16953204	chr18:8298263-8298264	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs376947972	chr18:8298306-8298307	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530264643	chr18:8298310-8298311	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548852840	chr18:8298323-8298324	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183833803	chr18:8298343-8298344	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144911720	chr18:8298375-8298376	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs367952873	chr18:8298405-8298406	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138757128	chr18:8298418-8298419	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115089331	chr18:8298485-8298486	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538365779	chr18:8298509-8298510	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553476811	chr18:8298510-8298511	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375914539	chr18:8298525-8298526	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572192528	chr18:8298591-8298592	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs61485545	chr18:8298605-8298606	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs9949149	chr18:8298633-8298634	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs576262972	chr18:8298639-8298640	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs140467462	chr18:8298677-8298678	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565295754	chr18:8298687-8298688	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546153835	chr18:8298713-8298714	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs12326322	chr18:8298732-8298733	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs375301989	chr18:8298790-8298791	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs4371221	chr18:8298813-8298814	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs9961216	chr18:8298871-8298872	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs187070181	chr18:8298874-8298875	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs4798621	chr18:8298902-8298903	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs563964934	chr18:8298960-8298961	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191159032	chr18:8298964-8298965	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150392108	chr18:8298968-8298969	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570886200	chr18:8298974-8298975	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs74929401	chr18:8298975-8298976	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs4798622	chr18:8298995-8298996	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs547081882	chr18:8299000-8299001	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565688023	chr18:8299013-8299014	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2000645	chr18:8299024-8299025	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs16953205	chr18:8299059-8299060	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs4798623	chr18:8299062-8299063	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs78898960	chr18:8299068-8299069	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2000646	chr18:8299082-8299083	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs2000647	chr18:8299100-8299101	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs2000648	chr18:8299151-8299152	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs559750994	chr18:8299160-8299161	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574845326	chr18:8299164-8299165	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542372014	chr18:8299165-8299166	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4798624	chr18:8299169-8299170	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:190 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8284600-8298800	Weak transcription	HepG2	liver
2	chr18:8284600-8300600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr18:8284800-8301000	Weak transcription	Osteobl	bone
4	chr18:8286400-8298400	Weak transcription	Gastric	stomach
5	chr18:8287800-8306800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr18:8289000-8300600	Weak transcription	Spleen	Spleen
7	chr18:8289000-8301600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr18:8289000-8308200	Weak transcription	Psoas Muscle	Psoas
9	chr18:8289200-8299400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr18:8289200-8300400	Weak transcription	Fetal Brain Female	brain
11	chr18:8289200-8300400	Weak transcription	Fetal Heart	heart
12	chr18:8289200-8300800	Weak transcription	Pancreas	Pancrea
13	chr18:8289200-8301600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr18:8289200-8319400	Weak transcription	Right Ventricle	heart
15	chr18:8289200-8327400	Weak transcription	Fetal Stomach	stomach
16	chr18:8289200-8329400	Weak transcription	Fetal Muscle Leg	muscle
17	chr18:8289400-8298600	Weak transcription	Liver	Liver
18	chr18:8291400-8300400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr18:8293200-8299400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr18:8293600-8300000	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr18:8294200-8319000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr18:8294200-8341400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr18:8295000-8298400	Strong transcription	Aorta	Aorta
24	chr18:8295000-8300800	Weak transcription	Brain Hippocampus Middle	brain
25	chr18:8295000-8312400	Weak transcription	Primary T cells from cord blood	blood
26	chr18:8295200-8301000	Weak transcription	HMEC	breast
27	chr18:8296200-8298200	Strong transcription	Ovary	ovary
28	chr18:8296200-8298400	Strong transcription	Fetal Lung	lung
29	chr18:8296200-8298600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr18:8296200-8298600	Weak transcription	Fetal Intestine Small	intestine
31	chr18:8296400-8298200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr18:8296400-8298200	Strong transcription	Skeletal Muscle Male	skeletal muscle
33	chr18:8296400-8298600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr18:8296400-8298600	Strong transcription	Adipose Nuclei	Adipose
35	chr18:8296400-8298600	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr18:8296400-8298600	Strong transcription	Stomach Smooth Muscle	stomach
37	chr18:8296400-8298800	Weak transcription	Fetal Intestine Large	intestine
38	chr18:8296400-8299200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr18:8296600-8298600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr18:8296600-8298600	Strong transcription	Fetal Muscle Trunk	muscle
41	chr18:8296600-8298600	Strong transcription	Thymus	Thymus
42	chr18:8296800-8298200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr18:8296800-8298400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr18:8297000-8300800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr18:8297000-8303600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr18:8297000-8328200	Weak transcription	Brain Anterior Caudate	brain
47	chr18:8297200-8316200	Weak transcription	Fetal Thymus	thymus
48	chr18:8297200-8327400	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr18:8297400-8298400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr18:8297400-8298600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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