Variant report

Variant	nsv948187
Chromosome Location	chr10:112771501-112773757
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:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:5)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:112770762..112772712-chr10:112775005..112777166,2	K562	blood:
2	chr10:112747542..112749737-chr10:112770146..112772624,2	K562	blood:
3	chr10:112768505..112770915-chr10:112771228..112772833,2	K562	blood:
4	chr10:112773361..112773861-chr7:2758450..2759306,2	MCF-7	breast:

No data

(count:5 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	SHOC2	hsa-miR-16-5p	chr10:112772691-112772711
2	SHOC2	hsa-miR-335-5p	chr10:112773037-112773060
3	SHOC2	hsa-miR-92a-3p	chr10:112772563-112772584
4	SHOC2	hsa-miR-16-5p	chr10:112772704-112772710
5	SHOC2	hsa-miR-16-5p	chr10:112773034-112773058

Variant related genes	Relation type
ENSG00000221214	chromatin interactions

Extended variants
information (count: 78 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151003571	chr10:112771530-112771531	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs370929606	chr10:112771558-112771559	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs113570768	chr10:112771559-112771560	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs143187497	chr10:112771579-112771580	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs377043455	chr10:112771587-112771588	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs574959049	chr10:112771591-112771592	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs371005619	chr10:112771596-112771597	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs575011429	chr10:112771645-112771646	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs542333379	chr10:112771649-112771650	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs377205004	chr10:112771676-112771677	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs375723336	chr10:112771726-112771727	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs191293913	chr10:112771740-112771741	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs201494424	chr10:112771751-112771752	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs576218739	chr10:112771792-112771793	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs542446944	chr10:112771868-112771869	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs543400072	chr10:112771869-112771870	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs182433736	chr10:112771929-112771930	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs539394184	chr10:112771980-112771981	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs532446734	chr10:112772006-112772007	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs541359882	chr10:112772077-112772078	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs371679867	chr10:112772082-112772083	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs559270881	chr10:112772099-112772100	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs573586846	chr10:112772135-112772136	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs560726584	chr10:112772221-112772222	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs557334390	chr10:112772232-112772233	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs189140753	chr10:112772273-112772274	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs148246156	chr10:112772288-112772289	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs114628508	chr10:112772349-112772350	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs193126887	chr10:112772374-112772375	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs185620695	chr10:112772427-112772428	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs540708199	chr10:112772455-112772456	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs189223963	chr10:112772490-112772491	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs192135385	chr10:112772505-112772506	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs372493479	chr10:112772534-112772535	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs568680803	chr10:112772600-112772601	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs536012063	chr10:112772616-112772617	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs530047047	chr10:112772637-112772638	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557280270	chr10:112772654-112772655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs118172559	chr10:112772682-112772683	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184177524	chr10:112772715-112772716	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141791891	chr10:112772873-112772874	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576948558	chr10:112772881-112772882	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371721188	chr10:112772899-112772900	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559572636	chr10:112772900-112772901	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188505184	chr10:112772953-112772954	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541969990	chr10:112772993-112772994	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563188768	chr10:112773039-112773040	Weak transcription Strong transcription	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
48	rs199880082	chr10:112773058-112773059	Weak transcription Strong transcription	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
49	rs180979375	chr10:112773059-112773060	Weak transcription Strong transcription	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
50	rs549502834	chr10:112773061-112773062	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
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:179 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:112705200-112789800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr10:112707200-112784200	Weak transcription	Left Ventricle	heart
3	chr10:112723200-112783000	Weak transcription	Small Intestine	intestine
4	chr10:112732600-112789400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr10:112732800-112782800	Weak transcription	Esophagus	oesophagus
6	chr10:112732800-112789400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr10:112738000-112782800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr10:112738200-112784600	Weak transcription	Ovary	ovary
9	chr10:112738400-112779400	Weak transcription	HepG2	liver
10	chr10:112739200-112774400	Weak transcription	Gastric	stomach
11	chr10:112740400-112791800	Weak transcription	Colon Smooth Muscle	Colon
12	chr10:112744800-112778800	Weak transcription	Hela-S3	cervix
13	chr10:112745600-112777600	Weak transcription	Pancreas	Pancrea
14	chr10:112746000-112783400	Weak transcription	Colonic Mucosa	Colon
15	chr10:112746800-112782800	Weak transcription	Psoas Muscle	Psoas
16	chr10:112747400-112779800	Weak transcription	Fetal Brain Male	brain
17	chr10:112747600-112785200	Weak transcription	Fetal Brain Female	brain
18	chr10:112749200-112789400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr10:112750400-112785000	Weak transcription	A549	lung
20	chr10:112751800-112772600	Weak transcription	K562	blood
21	chr10:112753000-112772600	Weak transcription	Brain Angular Gyrus	brain
22	chr10:112753200-112779200	Weak transcription	Brain Hippocampus Middle	brain
23	chr10:112753200-112779600	Weak transcription	Brain Anterior Caudate	brain
24	chr10:112753200-112782600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr10:112753200-112784200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr10:112753400-112776200	Weak transcription	Lung	lung
27	chr10:112753400-112789600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr10:112753800-112775000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr10:112754000-112782000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr10:112754000-112784800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr10:112754400-112782600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr10:112754800-112773000	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr10:112755000-112773000	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr10:112756800-112777800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr10:112757200-112782400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr10:112757400-112773000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr10:112757400-112775400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr10:112758200-112775000	Strong transcription	GM12878-XiMat	blood
39	chr10:112758200-112783600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr10:112758600-112773200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr10:112759600-112773000	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr10:112759800-112773600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr10:112760200-112773200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr10:112760200-112774600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr10:112760400-112773400	Strong transcription	Primary B cells from peripheral blood	blood
46	chr10:112761000-112774000	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr10:112761600-112781400	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr10:112761600-112782800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr10:112761800-112778200	Weak transcription	Fetal Intestine Small	intestine
50	chr10:112761800-112784200	Weak transcription	Spleen	Spleen

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