Variant report

Variant	nsv527892
Chromosome Location	chr10:112607918-112610839
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:112610748..112613703-chr10:112623981..112626805,2	MCF-7	breast:
2	chr10:112604597..112607623-chr10:112608052..112611214,4	K562	blood:
3	chr10:112603039..112604756-chr10:112609878..112611950,2	MCF-7	breast:
4	chr10:112601392..112612171-chr10:112628692..112635814,14	MCF-7	breast:
5	chr10:112591605..112593226-chr10:112610703..112612547,2	MCF-7	breast:
6	chr10:112608440..112622028-chr10:112627331..112635995,26	MCF-7	breast:
7	chr10:112604056..112607553-chr10:112607737..112614942,9	MCF-7	breast:
8	chr10:112606555..112610300-chr10:112611947..112614972,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000203497	chromatin interactions
ENSG00000150593	chromatin interactions
ENSG00000232470	chromatin interactions

Extended variants
information (count: 101 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17128067	chr10:112607918-112607919	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs549053782	chr10:112607975-112607976	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs550665216	chr10:112608017-112608018	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs185626077	chr10:112608024-112608025	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs7067787	chr10:112608097-112608098	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs11195355	chr10:112608109-112608110	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs571175967	chr10:112608136-112608137	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs201249618	chr10:112608143-112608144	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs575533857	chr10:112608144-112608145	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs398075527	chr10:112608154-112608155	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs538570005	chr10:112608162-112608163	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs189992326	chr10:112608194-112608195	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs139906373	chr10:112608197-112608198	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs542501121	chr10:112608348-112608349	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs117707765	chr10:112608355-112608356	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs576642200	chr10:112608421-112608422	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs543803038	chr10:112608434-112608435	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs565300061	chr10:112608511-112608512	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs1969764	chr10:112608523-112608524	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs541755899	chr10:112608531-112608532	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs182817357	chr10:112608561-112608562	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs188965650	chr10:112608579-112608580	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs548526931	chr10:112608597-112608598	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs567340369	chr10:112608603-112608604	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs369979572	chr10:112608626-112608627	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs35090089	chr10:112608627-112608628	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs193207904	chr10:112608666-112608667	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs368178750	chr10:112608692-112608693	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs144024482	chr10:112608729-112608730	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs552657937	chr10:112608769-112608770	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs146456465	chr10:112608874-112608875	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs371651046	chr10:112608906-112608907	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs374926728	chr10:112608958-112608959	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs565859959	chr10:112609007-112609008	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs373349484	chr10:112609074-112609075	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs183477123	chr10:112609076-112609077	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs554481771	chr10:112609132-112609133	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs576576270	chr10:112609180-112609181	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs370165962	chr10:112609228-112609229	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs143214584	chr10:112609276-112609277	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs80076483	chr10:112609310-112609311	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs187257254	chr10:112609332-112609333	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs117651995	chr10:112609448-112609449	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs541113805	chr10:112609460-112609461	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs76879537	chr10:112609466-112609467	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs575065707	chr10:112609497-112609498	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs145613769	chr10:112609503-112609504	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs116353058	chr10:112609514-112609515	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs557099934	chr10:112609516-112609517	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs531261444	chr10:112609561-112609562	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Paraganglioma	17535989	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myxofibrosarcoma	16751306	CNVD
Cornelia de Lange syndrome	24599119	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	16397240	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	16616336	CNVD
Chronic lymphocytic leukemia	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Barrett''s syndrome	19417022	CNVD
Sezary syndrome	18413736	CNVD
Cornelia de Lange syndrome	21085971	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	20067559	CNVD

Chromatin state (count:145 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:112591400-112610600	Weak transcription	HSMMtube	muscle
2	chr10:112593200-112608200	Enhancers	Fetal Intestine Small	intestine
3	chr10:112593200-112608400	Enhancers	Fetal Intestine Large	intestine
4	chr10:112597000-112617200	Weak transcription	Psoas Muscle	Psoas
5	chr10:112597400-112614600	Weak transcription	Aorta	Aorta
6	chr10:112597800-112613400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr10:112597800-112617200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr10:112599600-112613000	Enhancers	Pancreas	Pancrea
9	chr10:112600600-112610000	Weak transcription	HMEC	breast
10	chr10:112600600-112617200	Weak transcription	Right Ventricle	heart
11	chr10:112600800-112613000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr10:112602400-112620600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr10:112602600-112608200	Enhancers	Primary B cells from cord blood	blood
14	chr10:112602800-112608200	Enhancers	Primary B cells from peripheral blood	blood
15	chr10:112603800-112610200	Weak transcription	Thymus	Thymus
16	chr10:112604000-112608800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr10:112604000-112609400	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr10:112604000-112609600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr10:112604200-112609200	Weak transcription	Placenta	Placenta
20	chr10:112604200-112609400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr10:112605600-112617000	Weak transcription	Fetal Heart	heart
22	chr10:112605800-112608600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr10:112605800-112609400	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr10:112605800-112609600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr10:112606000-112609400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr10:112606000-112609400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr10:112606200-112609000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr10:112606200-112609000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr10:112606200-112609400	Weak transcription	Fetal Thymus	thymus
30	chr10:112606200-112609600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr10:112606400-112608800	Weak transcription	Primary T cells from cord blood	blood
32	chr10:112606400-112609200	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr10:112606600-112608000	Enhancers	Adipose Nuclei	Adipose
34	chr10:112606600-112608200	Enhancers	Duodenum Mucosa	Duodenum
35	chr10:112607000-112609200	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr10:112607000-112612000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr10:112607200-112608200	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr10:112607200-112610600	Weak transcription	Colonic Mucosa	Colon
39	chr10:112607200-112610800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr10:112607200-112610800	Weak transcription	Fetal Lung	lung
41	chr10:112607200-112611000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr10:112607200-112611600	Weak transcription	Liver	Liver
43	chr10:112607200-112611800	Weak transcription	HepG2	liver
44	chr10:112607200-112612000	Weak transcription	Gastric	stomach
45	chr10:112607400-112608600	Weak transcription	GM12878-XiMat	blood
46	chr10:112607400-112609200	Weak transcription	Spleen	Spleen
47	chr10:112607400-112609400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr10:112607400-112610800	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr10:112607400-112610800	Weak transcription	Stomach Mucosa	stomach
50	chr10:112607400-112611000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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