Variant report

Variant	esv1807017
Chromosome Location	chr10:5890688-5898882
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:5850597..5853484-chr10:5898526..5901196,3	K562	blood:
2	chr10:5872995..5874657-chr10:5893099..5894735,2	K562	blood:
3	chr10:5889255..5891417-chr10:5903224..5906135,2	MCF-7	breast:
4	chr10:5874179..5876350-chr10:5894206..5896113,2	K562	blood:
5	chr10:5887234..5889271-chr10:5891738..5894895,3	K562	blood:
6	chr10:5853739..5856663-chr10:5888964..5891448,2	MCF-7	breast:
7	chr10:5854377..5856986-chr10:5893024..5895477,2	MCF-7	breast:
8	chr10:5855459..5857550-chr10:5896557..5898407,2	K562	blood:
9	chr10:5853523..5857550-chr10:5895504..5898472,4	K562	blood:
10	chr10:5835385..5837024-chr10:5893151..5895747,2	MCF-7	breast:
11	chr10:5854140..5856929-chr10:5898558..5900231,2	MCF-7	breast:
12	chr10:5853822..5855522-chr10:5894959..5897047,2	MCF-7	breast:
13	chr10:5853185..5855023-chr10:5896110..5898472,2	K562	blood:
14	chr10:5887749..5890618-chr10:5895657..5897180,2	K562	blood:
15	chr10:5886207..5890565-chr10:5893992..5897304,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272764	chromatin interactions
ENSG00000057608	chromatin interactions
ENSG00000240180	chromatin interactions

Extended variants
information (count: 371 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:371 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536204462	chr10:5890697-5890698	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs373239265	chr10:5890749-5890750	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs193225962	chr10:5890761-5890762	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs140243839	chr10:5890771-5890772	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs563123287	chr10:5890881-5890882	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs530666949	chr10:5890910-5890911	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs551979167	chr10:5890970-5890971	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs145519164	chr10:5890975-5890976	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs182683811	chr10:5891011-5891012	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs569074936	chr10:5891121-5891122	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs566830488	chr10:5891129-5891130	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs546594386	chr10:5891229-5891230	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs555927278	chr10:5891253-5891254	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs539680544	chr10:5891332-5891333	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs529595308	chr10:5891353-5891354	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs551322581	chr10:5891480-5891481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558117400	chr10:5891581-5891582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376207441	chr10:5891603-5891604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs117049467	chr10:5891633-5891634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs117355731	chr10:5891634-5891635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138128678	chr10:5891666-5891667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149084332	chr10:5891737-5891738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533908390	chr10:5891879-5891880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555718516	chr10:5891936-5891937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533729675	chr10:5891953-5891954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143151629	chr10:5891984-5891985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573213412	chr10:5892068-5892069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541720314	chr10:5892157-5892158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556880446	chr10:5892182-5892183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554173680	chr10:5892236-5892237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575058240	chr10:5892241-5892242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545979252	chr10:5892347-5892348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372068054	chr10:5892422-5892423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187827305	chr10:5892509-5892510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528202862	chr10:5892563-5892564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148108643	chr10:5892622-5892623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11594229	chr10:5892747-5892748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77751864	chr10:5892753-5892754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7903021	chr10:5892792-5892793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370592593	chr10:5892796-5892797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537873352	chr10:5892798-5892799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11592539	chr10:5892812-5892813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11595100	chr10:5892817-5892818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551285869	chr10:5892836-5892837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569575239	chr10:5892837-5892838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533336811	chr10:5892839-5892840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188513196	chr10:5892864-5892865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566989631	chr10:5892893-5892894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534917265	chr10:5892911-5892912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534280884	chr10:5892942-5892943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
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
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Ovarian cancer	22355333	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Gastrointestinal stromal cancer	20818650	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5883200-5897000	Enhancers	Primary B cells from peripheral blood	blood
2	chr10:5888600-5894200	Weak transcription	K562	blood
3	chr10:5888800-5904400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr10:5889000-5894000	Weak transcription	GM12878-XiMat	blood
5	chr10:5889200-5894200	Weak transcription	HepG2	liver
6	chr10:5889200-5900400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr10:5889400-5902000	Weak transcription	Placenta	Placenta
8	chr10:5890200-5896600	Enhancers	Primary B cells from cord blood	blood
9	chr10:5892800-5893000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr10:5893600-5896400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr10:5893600-5896400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr10:5893800-5894200	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr10:5893800-5896000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr10:5894000-5894200	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr10:5894000-5894200	Enhancers	GM12878-XiMat	blood
16	chr10:5894200-5894400	Enhancers	Adipose Nuclei	Adipose
17	chr10:5894200-5894600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr10:5894200-5894600	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr10:5894200-5894600	Enhancers	Spleen	Spleen
20	chr10:5894200-5894600	Flanking Active TSS	GM12878-XiMat	blood
21	chr10:5894200-5894600	Flanking Active TSS	HepG2	liver
22	chr10:5894200-5894600	Enhancers	K562	blood
23	chr10:5894200-5894600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr10:5894600-5894800	Active TSS	HepG2	liver
25	chr10:5894600-5894800	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr10:5894600-5895600	Enhancers	GM12878-XiMat	blood
27	chr10:5894600-5908600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr10:5894600-5908600	Weak transcription	K562	blood
29	chr10:5894600-5916800	Weak transcription	Spleen	Spleen
30	chr10:5894800-5895200	Weak transcription	HepG2	liver
31	chr10:5894800-5895200	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr10:5895200-5895400	Enhancers	HepG2	liver
33	chr10:5895200-5895800	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr10:5895400-5895600	Flanking Active TSS	HepG2	liver
35	chr10:5895400-5896400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr10:5895600-5896000	Enhancers	HepG2	liver
37	chr10:5896000-5896200	Enhancers	Fetal Muscle Trunk	muscle
38	chr10:5896000-5896600	Enhancers	Fetal Muscle Leg	muscle
39	chr10:5896000-5896600	Enhancers	Fetal Stomach	stomach
40	chr10:5896000-5897200	Weak transcription	HepG2	liver
41	chr10:5896200-5896400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr10:5896200-5896400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr10:5896200-5896400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr10:5896200-5896400	Enhancers	Brain Anterior Caudate	brain
45	chr10:5896200-5896400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr10:5896200-5896400	Enhancers	Fetal Lung	lung
47	chr10:5896200-5912200	Weak transcription	Fetal Muscle Trunk	muscle
48	chr10:5896400-5898400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr10:5896400-5899800	Weak transcription	Brain Anterior Caudate	brain
50	chr10:5896400-5899800	Weak transcription	Brain Substantia Nigra	brain

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