Variant report

Variant	esv3377854
Chromosome Location	chr10:25254646-25258844
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:25253127..25256241-chr10:25256724..25259023,3	K562	blood:
2	chr10:25240344..25242341-chr10:25254232..25255752,2	MCF-7	breast:
3	chr10:25253735..25256241-chr10:25257009..25259023,2	K562	blood:
4	chr10:25253127..25256241-chr10:25256724..25259023,3	K562	blood:
5	chr10:25245492..25247955-chr10:25250126..25255906,6	K562	blood:
6	chr10:25253735..25256241-chr10:25257009..25259023,2	K562	blood:
7	chr10:25249933..25252062-chr10:25253513..25255370,2	K562	blood:
8	chr10:25241659..25243537-chr10:25257631..25261470,3	K562	blood:
9	chr10:25245492..25247572-chr10:25252879..25256306,3	K562	blood:
10	chr10:25254805..25256988-chr10:25262372..25264667,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000099256	chromatin interactions
ENSG00000273107	chromatin interactions

Extended variants
information (count: 172 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:172 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565242963	chr10:25254664-25254665	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs558835237	chr10:25254691-25254692	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs575903859	chr10:25254719-25254720	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs544569857	chr10:25254760-25254761	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs75380145	chr10:25254770-25254771	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs148229680	chr10:25254773-25254774	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs183348758	chr10:25254793-25254794	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs186284812	chr10:25254813-25254814	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs75645696	chr10:25254861-25254862	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs532032587	chr10:25254935-25254936	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs190196877	chr10:25254946-25254947	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs114731935	chr10:25255005-25255006	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs531681275	chr10:25255052-25255053	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs368175130	chr10:25255108-25255109	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs548168413	chr10:25255200-25255201	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs141213788	chr10:25255251-25255252	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs636077	chr10:25255268-25255269	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs57681668	chr10:25255271-25255272	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs546986955	chr10:25255357-25255358	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs76069002	chr10:25255369-25255370	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs34084755	chr10:25255375-25255376	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs12761282	chr10:25255447-25255448	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs538715830	chr10:25255457-25255458	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs562953203	chr10:25255529-25255530	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs559145592	chr10:25255536-25255537	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs369655682	chr10:25255538-25255539	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs569348024	chr10:25255602-25255603	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs538557986	chr10:25255704-25255705	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs79242855	chr10:25255741-25255742	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs114075577	chr10:25255748-25255749	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs539845855	chr10:25255772-25255773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376151342	chr10:25255808-25255809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553311473	chr10:25255812-25255813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148332543	chr10:25255881-25255882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368827821	chr10:25255910-25255911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545579966	chr10:25255924-25255925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182702010	chr10:25255935-25255936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs57654443	chr10:25255946-25255947	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs186601767	chr10:25255952-25255953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541972075	chr10:25255985-25255986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551976456	chr10:25256000-25256001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527532910	chr10:25256003-25256004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192398708	chr10:25256032-25256033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566862735	chr10:25256114-25256115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532686233	chr10:25256115-25256116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11014328	chr10:25256152-25256153	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs569467714	chr10:25256214-25256215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183910589	chr10:25256220-25256221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs572549399	chr10:25256223-25256224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs568424066	chr10:25256229-25256230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:42)

Disease	PMID	Source
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
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Autism	21439084	CNVD
Maculopathy	20981449	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:25248400-25256600	Weak transcription	Fetal Brain Male	brain
2	chr10:25248400-25256600	Weak transcription	Fetal Kidney	kidney
3	chr10:25249200-25258600	Weak transcription	Brain Anterior Caudate	brain
4	chr10:25249200-25258600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr10:25249200-25262200	Weak transcription	Fetal Stomach	stomach
6	chr10:25249200-25263800	Weak transcription	Ovary	ovary
7	chr10:25249400-25258200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr10:25251000-25263800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr10:25253200-25262000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr10:25253200-25264000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr10:25254400-25257800	Weak transcription	Fetal Muscle Leg	muscle
12	chr10:25255600-25256600	Weak transcription	NHDF-Ad	bronchial
13	chr10:25256200-25256400	Enhancers	Gastric	stomach
14	chr10:25256400-25264400	Weak transcription	Gastric	stomach
15	chr10:25256600-25256800	ZNF genes & repeats	Fetal Brain Male	brain
16	chr10:25256600-25256800	Enhancers	NHDF-Ad	bronchial
17	chr10:25256600-25257000	ZNF genes & repeats	Fetal Kidney	kidney
18	chr10:25256800-25258200	Weak transcription	NHDF-Ad	bronchial
19	chr10:25257000-25259000	Weak transcription	Fetal Kidney	kidney
20	chr10:25257400-25257600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr10:25257600-25258600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr10:25257800-25258200	Enhancers	Fetal Muscle Trunk	muscle
23	chr10:25257800-25259600	Enhancers	Fetal Muscle Leg	muscle
24	chr10:25258200-25259400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr10:25258200-25259400	Enhancers	Osteobl	bone
26	chr10:25258200-25259800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr10:25258200-25260800	Enhancers	NHDF-Ad	bronchial
28	chr10:25258400-25259400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr10:25258400-25259600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr10:25258600-25259000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr10:25258600-25259200	Enhancers	Brain Anterior Caudate	brain
32	chr10:25258600-25259400	Enhancers	Brain Cingulate Gyrus	brain
33	chr10:25258800-25259000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr10:25258800-25259400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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