Variant report

Variant	nsv1037193
Chromosome Location	chr10:989533-1019630
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:79)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:79 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr10:1010243..1012883-chr10:1030629..1033582,2	K562	blood:
2	chr10:1002020..1004924-chr10:1009202..1011501,2	MCF-7	breast:
3	chr10:1013251..1015818-chr10:1022738..1024636,2	K562	blood:
4	chr10:1002935..1005856-chr10:1082299..1084442,2	MCF-7	breast:
5	chr10:977694..980821-chr10:1006249..1008907,4	MCF-7	breast:
6	chr10:1015085..1016586-chr10:1048514..1051399,2	MCF-7	breast:
7	chr10:1001054..1003663-chr10:1008457..1009991,2	MCF-7	breast:
8	chr10:1017304..1018070-chr10:1030124..1030639,2	MCF-7	breast:
9	chr10:1005925..1008895-chr10:1011879..1014677,2	MCF-7	breast:
10	chr10:974834..978758-chr10:991717..994316,3	MCF-7	breast:
11	chr10:1017049..1018015-chr10:1034396..1035314,2	MCF-7	breast:
12	chr10:974758..977274-chr10:1018618..1021450,2	K562	blood:
13	chr10:988532..990709-chr10:1000522..1003406,2	MCF-7	breast:
14	chr10:991162..993286-chr10:1002150..1004961,2	K562	blood:
15	chr10:988056..990097-chr10:1030417..1032200,2	K562	blood:
16	chr10:1014806..1016425-chr10:1022937..1025172,2	MCF-7	breast:
17	chr10:975610..978082-chr10:1008022..1009914,3	K562	blood:
18	chr10:1000614..1004584-chr10:1019814..1022762,4	K562	blood:
19	chr10:979434..982350-chr10:995576..997645,2	MCF-7	breast:
20	chr10:983720..986820-chr10:989199..992227,3	MCF-7	breast:
21	chr10:986490..989100-chr10:1016201..1018491,2	MCF-7	breast:
22	chr10:993403..996250-chr10:1036309..1038565,2	K562	blood:
23	chr10:976974..978781-chr10:992429..995773,3	MCF-7	breast:
24	chr10:1009296..1011482-chr10:1012719..1015110,2	MCF-7	breast:
25	chr10:986549..990201-chr10:1030700..1035554,4	K562	blood:
26	chr10:978959..981256-chr10:1013885..1016544,2	K562	blood:
27	chr10:989792..992480-chr10:1084980..1087131,2	MCF-7	breast:
28	chr10:995726..997603-chr10:1033507..1035656,2	K562	blood:
29	chr10:992595..994110-chr10:1032273..1033999,2	K562	blood:
30	chr10:1007049..1008640-chr10:1032331..1034053,2	K562	blood:
31	chr10:980826..983608-chr10:1003068..1004956,2	K562	blood:
32	chr10:976040..979233-chr10:1016379..1022615,6	MCF-7	breast:
33	chr10:980642..983775-chr10:1008969..1010804,3	K562	blood:
34	chr10:976263..979384-chr10:986596..991037,4	MCF-7	breast:
35	chr10:1006827..1010625-chr10:1012447..1015815,4	K562	blood:
36	chr10:1009296..1011482-chr10:1012719..1015110,2	MCF-7	breast:
37	chr10:993243..997969-chr10:1000077..1005831,6	K562	blood:
38	chr10:1011306..1012859-chr10:1032874..1035297,2	MCF-7	breast:
39	chr10:1004224..1005982-chr10:1009154..1011697,2	K562	blood:
40	chr10:989315..991705-chr10:1095222..1096768,2	MCF-7	breast:
41	chr10:1015043..1019353-chr10:1030351..1034278,6	MCF-7	breast:
42	chr10:1005925..1008895-chr10:1011879..1014677,2	MCF-7	breast:
43	chr10:959058..959737-chr10:1016214..1016784,2	MCF-7	breast:
44	chr10:1015119..1019104-chr10:1032459..1035516,7	MCF-7	breast:
45	chr10:990098..992111-chr10:1033029..1035814,2	MCF-7	breast:
46	chr10:1006827..1010625-chr10:1012447..1015815,4	K562	blood:
47	chr10:975132..982582-chr10:1010670..1022073,17	MCF-7	breast:
48	chr10:1016732..1019141-chr10:1025032..1027093,3	MCF-7	breast:
49	chr10:1002020..1004924-chr10:1009202..1011501,2	MCF-7	breast:
50	chr10:949273..951052-chr10:1017196..1019797,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL359878.1-1	chr10:997609-997718	NONHSAT010887
2	lnc-AL359878.1-1	chr10:999388-1000122	NONHSAT010887

No data

Variant related genes	Relation type
ENSG00000047056	chromatin interactions
ENSG00000067064	chromatin interactions
ENSG00000205740	chromatin interactions
ENSG00000229869	chromatin interactions
ENSG00000107929	chromatin interactions
ENSG00000107937	chromatin interactions

Extended variants
information (count: 1259 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1259 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11253527	chr10:989533-989534	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs376775167	chr10:989638-989639	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs537530636	chr10:989660-989661	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs543562883	chr10:989716-989717	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs369305041	chr10:989759-989760	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs554693552	chr10:989794-989795	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs557220760	chr10:989817-989818	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs574081986	chr10:989852-989853	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs574068727	chr10:989856-989857	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs539801278	chr10:989892-989893	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs542689414	chr10:989920-989921	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs374110708	chr10:989952-989953	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs559679634	chr10:989959-989960	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs377405522	chr10:989967-989968	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs146226001	chr10:990095-990096	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs541352920	chr10:990096-990097	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs185813399	chr10:990104-990105	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs533166786	chr10:990140-990141	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs61833265	chr10:990143-990144	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs201602330	chr10:990156-990157	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs569693751	chr10:990213-990214	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs573171709	chr10:990232-990233	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs75194493	chr10:990340-990341	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs139290223	chr10:990397-990398	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs548773729	chr10:990431-990432	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs546197726	chr10:990450-990451	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs534277805	chr10:990453-990454	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs145066185	chr10:990462-990463	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs148695389	chr10:990491-990492	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs75250060	chr10:990494-990495	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs565320917	chr10:990503-990504	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs544574131	chr10:990540-990541	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs117063102	chr10:990546-990547	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs370565486	chr10:990559-990560	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs574076513	chr10:990594-990595	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs543130635	chr10:990616-990617	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs553471019	chr10:990637-990638	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs190446441	chr10:990742-990743	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs573283874	chr10:990748-990749	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs142757471	chr10:990768-990769	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs564422191	chr10:990813-990814	Flanking Active TSS Weak transcription Active TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs374261752	chr10:990820-990821	Flanking Active TSS Weak transcription Active TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs565669872	chr10:990989-990990	Flanking Active TSS Weak transcription Active TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs151035051	chr10:991008-991009	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs181790614	chr10:991071-991072	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs563518424	chr10:991118-991119	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs527862386	chr10:991121-991122	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs549069744	chr10:991122-991123	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs372016047	chr10:991139-991140	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs185872867	chr10:991149-991150	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	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
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
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21525872	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:383 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:985200-990200	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr10:985400-990000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr10:985400-990400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr10:985600-989600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr10:985600-989600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr10:985600-989800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr10:985600-989800	Weak transcription	Spleen	Spleen
8	chr10:985600-990200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr10:985600-990200	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr10:985600-990400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr10:985800-990000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr10:985800-990200	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr10:985800-990200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr10:985800-990200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr10:985800-990200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr10:985800-990400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr10:985800-990400	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr10:989200-989600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr10:989400-990200	Enhancers	Duodenum Mucosa	Duodenum
20	chr10:989400-990600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr10:989400-990800	Flanking Active TSS	GM12878-XiMat	blood
22	chr10:989400-991000	Enhancers	Primary B cells from peripheral blood	blood
23	chr10:989600-989800	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr10:989600-990000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr10:989600-990400	Enhancers	Primary hematopoietic stem cells	blood
26	chr10:989600-990600	Enhancers	Esophagus	oesophagus
27	chr10:989600-990800	Enhancers	Stomach Mucosa	stomach
28	chr10:989600-993400	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr10:989800-990200	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr10:989800-990200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr10:989800-990400	Bivalent Enhancer	HepG2	liver
32	chr10:989800-990600	Enhancers	H1 Cell Line	embryonic stem cell
33	chr10:989800-990600	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr10:989800-990600	Enhancers	Spleen	Spleen
35	chr10:989800-990600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr10:990000-990200	Enhancers	Adipose Nuclei	Adipose
37	chr10:990000-990400	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr10:990000-990400	Enhancers	NHEK	skin
39	chr10:990000-990800	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr10:990000-990800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr10:990000-990800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr10:990200-990400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr10:990200-990400	Enhancers	Muscle Satellite Cultured Cells	--
44	chr10:990200-990400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr10:990200-990400	Enhancers	Fetal Muscle Leg	muscle
46	chr10:990200-990400	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr10:990200-990400	Enhancers	HSMM	muscle
48	chr10:990200-990400	Enhancers	HUVEC	blood vessel
49	chr10:990200-990400	Enhancers	NHDF-Ad	bronchial
50	chr10:990200-990400	Enhancers	Osteobl	bone

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