Variant report

Variant	nsv522505
Chromosome Location	chr10:18453209-18465479
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	chr10:18450176..18452419-chr10:18453993..18456131,2	K562	blood:

Extended variants
information (count: 572 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:572 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1888692	chr10:18453209-18453210	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564183826	chr10:18453218-18453219	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs370124818	chr10:18453224-18453225	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs531535534	chr10:18453243-18453244	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs549680124	chr10:18453254-18453255	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs563156352	chr10:18453362-18453363	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs568161237	chr10:18453369-18453370	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs535182555	chr10:18453385-18453386	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs547447351	chr10:18453436-18453437	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs181533994	chr10:18453604-18453605	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs186268242	chr10:18453634-18453635	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs558498643	chr10:18453660-18453661	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs530601131	chr10:18453702-18453703	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs16916911	chr10:18453710-18453711	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs537675443	chr10:18453727-18453728	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs555646247	chr10:18453730-18453731	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs191225813	chr10:18453744-18453745	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs541122630	chr10:18453748-18453749	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs559361871	chr10:18453768-18453769	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs572827778	chr10:18453789-18453790	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs577622267	chr10:18453792-18453793	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs75184175	chr10:18453799-18453800	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs149902968	chr10:18453813-18453814	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs531470560	chr10:18453867-18453868	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs543634323	chr10:18453886-18453887	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs561709359	chr10:18454009-18454010	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs144920457	chr10:18454013-18454014	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs200474523	chr10:18454025-18454026	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs386741525	chr10:18454042-18454043	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565742303	chr10:18454043-18454044	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs55890801	chr10:18454044-18454045	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs551063279	chr10:18454084-18454085	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570344993	chr10:18454135-18454136	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547484098	chr10:18454168-18454169	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs566017271	chr10:18454175-18454176	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536564404	chr10:18454213-18454214	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs537329271	chr10:18454217-18454218	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs535600637	chr10:18454226-18454227	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs182546810	chr10:18454236-18454237	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs370047750	chr10:18454237-18454238	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs574120846	chr10:18454258-18454259	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs553051840	chr10:18454292-18454293	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs577686198	chr10:18454293-18454294	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs374492248	chr10:18454294-18454295	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs545014799	chr10:18454312-18454313	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs557059535	chr10:18454313-18454314	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs576312149	chr10:18454325-18454326	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs2150694	chr10:18454327-18454328	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs561961170	chr10:18454329-18454330	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs570291683	chr10:18454344-18454345	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:39)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal cancer	21851588	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	19287155	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	22083797	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:18431400-18468800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr10:18435000-18454200	Weak transcription	Brain Anterior Caudate	brain
3	chr10:18435000-18467200	Weak transcription	Brain Hippocampus Middle	brain
4	chr10:18443800-18459000	Weak transcription	Fetal Intestine Small	intestine
5	chr10:18444600-18456000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr10:18444600-18457000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr10:18444600-18458400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr10:18444600-18466800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr10:18448200-18453400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr10:18448400-18454000	Weak transcription	Left Ventricle	heart
11	chr10:18448400-18454200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr10:18448400-18469000	Weak transcription	Right Ventricle	heart
13	chr10:18448600-18454200	Weak transcription	Aorta	Aorta
14	chr10:18448800-18453800	Weak transcription	Fetal Brain Female	brain
15	chr10:18449000-18453600	Weak transcription	Fetal Brain Male	brain
16	chr10:18450000-18453400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr10:18452400-18453600	Enhancers	Rectal Smooth Muscle	rectum
18	chr10:18452400-18454600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr10:18452400-18454600	Enhancers	Ovary	ovary
20	chr10:18452400-18456000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr10:18452600-18453800	Enhancers	Fetal Heart	heart
22	chr10:18452600-18454000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr10:18452600-18454000	Enhancers	NHLF	lung
24	chr10:18452600-18454600	Enhancers	Fetal Lung	lung
25	chr10:18452600-18454600	Enhancers	Fetal Stomach	stomach
26	chr10:18452800-18453800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr10:18452800-18454600	Enhancers	Osteobl	bone
28	chr10:18452800-18466600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr10:18453000-18453800	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr10:18453000-18454000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr10:18453000-18454200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr10:18453000-18454200	Weak transcription	Pancreas	Pancrea
33	chr10:18453000-18459600	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr10:18453200-18453400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr10:18453200-18453400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr10:18453200-18453400	Enhancers	HSMM	muscle
37	chr10:18453200-18453600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr10:18453200-18453600	Flanking Active TSS	NH-A	brain
39	chr10:18453200-18453800	Flanking Active TSS	NHDF-Ad	bronchial
40	chr10:18453200-18454200	Weak transcription	Colon Smooth Muscle	Colon
41	chr10:18453200-18454600	Enhancers	Muscle Satellite Cultured Cells	--
42	chr10:18453200-18454600	Enhancers	Fetal Muscle Leg	muscle
43	chr10:18453400-18453600	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr10:18453400-18454200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr10:18453400-18454200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr10:18453400-18454200	Weak transcription	HSMM	muscle
47	chr10:18453400-18458600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr10:18453600-18453800	Flanking Active TSS	Rectal Smooth Muscle	rectum
49	chr10:18453600-18454000	Active TSS	NH-A	brain
50	chr10:18453600-18454200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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