Variant report

Variant	nsv825300
Chromosome Location	chr10:22619187-22620592
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:22619841-22619957	GM20000	blood:	n/a	n/a
2	MAFK	chr10:22620547-22620747	HepG2	liver:	n/a	chr10:22620659-22620673 chr10:22620688-22620708 chr10:22620661-22620681

No.	miRNA target gene	miRNA name	Chromosome Location
1	BMI1	hsa-miR-218-5p	chr10:22619941-22619948
2	BMI1	hsa-miR-200c-3p	chr10:22619173-22619197
3	BMI1	hsa-miR-200c-3p	chr10:22619829-22619852
4	BMI1	hsa-miR-218-5p	chr10:22620209-22620229
5	BMI1	hsa-miR-200c-3p	chr10:22619190-22619196
6	BMI1	hsa-miR-194-5p	chr10:22619990-22620010
7	BMI1	hsa-miR-218-5p	chr10:22620037-22620057
8	BMI1	hsa-miR-218-5p	chr10:22619928-22619948

Variant related genes	Relation type
ENSG00000272516	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 37 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1042104	chr10:22619208-22619209	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113218050	chr10:22619256-22619257	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540075820	chr10:22619276-22619277	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184184225	chr10:22619279-22619280	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7080076	chr10:22619304-22619305	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs537510143	chr10:22619307-22619308	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554560525	chr10:22619314-22619315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574306378	chr10:22619345-22619346	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1170546	chr10:22619439-22619440	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188095956	chr10:22619484-22619485	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551676229	chr10:22619485-22619486	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576710083	chr10:22619563-22619564	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs61691200	chr10:22619570-22619571	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572117291	chr10:22619574-22619575	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570881458	chr10:22619721-22619722	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545621307	chr10:22619781-22619782	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192679311	chr10:22619872-22619873	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs576141346	chr10:22619937-22619938	Weak transcription Strong transcription	TF binding region miRNA target site	2 gene(s)	Overlapped CNVs	n/a
19	rs114548143	chr10:22619993-22619994	Weak transcription Strong transcription	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
20	rs562210717	chr10:22620009-22620010	Weak transcription Strong transcription	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
21	rs527727863	chr10:22620097-22620098	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185472383	chr10:22620109-22620110	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189894322	chr10:22620149-22620150	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs3211472	chr10:22620184-22620185	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182512482	chr10:22620215-22620216	Weak transcription Strong transcription	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
26	rs533639804	chr10:22620224-22620225	Weak transcription Strong transcription	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
27	rs550413778	chr10:22620302-22620303	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34282197	chr10:22620407-22620408	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35622678	chr10:22620412-22620413	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570223399	chr10:22620413-22620414	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140374962	chr10:22620437-22620438	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs142720045	chr10:22620468-22620469	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs373542883	chr10:22620471-22620472	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112306623	chr10:22620472-22620473	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548024984	chr10:22620476-22620477	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144273530	chr10:22620520-22620521	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533584992	chr10:22620524-22620525	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs147827761	chr10:22620547-22620548	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs200951360	chr10:22620581-22620582	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:37)

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
Acute lymphoblastic leukemia	22237106	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	21525872	CNVD
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:166 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22615000-22622200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr10:22615000-22622800	Weak transcription	Spleen	Spleen
3	chr10:22615000-22623400	Weak transcription	Gastric	stomach
4	chr10:22615200-22619600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr10:22615200-22619600	Weak transcription	Fetal Intestine Small	intestine
6	chr10:22615200-22620400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr10:22615200-22621000	Weak transcription	Fetal Stomach	stomach
8	chr10:22615200-22621400	Weak transcription	Esophagus	oesophagus
9	chr10:22615200-22622000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr10:22615200-22622800	Weak transcription	Colonic Mucosa	Colon
11	chr10:22615200-22622800	Weak transcription	Pancreas	Pancrea
12	chr10:22615200-22623000	Weak transcription	Ovary	ovary
13	chr10:22615200-22623000	Weak transcription	Right Ventricle	heart
14	chr10:22615400-22620200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr10:22615600-22619200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr10:22615600-22619200	Strong transcription	Duodenum Smooth Muscle	Duodenum
17	chr10:22615600-22619200	Strong transcription	Skeletal Muscle Female	skeletal muscle
18	chr10:22615600-22619400	Strong transcription	Adipose Nuclei	Adipose
19	chr10:22615600-22620600	Strong transcription	Liver	Liver
20	chr10:22615800-22619400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr10:22615800-22619400	Strong transcription	Dnd41	blood
22	chr10:22615800-22621000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr10:22615800-22621200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr10:22616000-22619200	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr10:22616000-22619400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr10:22616000-22619400	Strong transcription	Fetal Intestine Large	intestine
27	chr10:22616000-22619400	Strong transcription	Placenta	Placenta
28	chr10:22616000-22619400	Strong transcription	HSMM	muscle
29	chr10:22616000-22620800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr10:22616200-22619400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr10:22616200-22622600	Weak transcription	HepG2	liver
32	chr10:22616400-22619200	Strong transcription	HUVEC	blood vessel
33	chr10:22616400-22619400	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr10:22616400-22619400	Strong transcription	HMEC	breast
35	chr10:22616600-22619200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr10:22616600-22619200	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr10:22616600-22619400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr10:22616600-22619400	Strong transcription	Osteobl	bone
39	chr10:22616800-22619400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr10:22616800-22619600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr10:22617000-22619200	Strong transcription	Primary B cells from cord blood	blood
42	chr10:22617000-22619200	Strong transcription	Fetal Brain Female	brain
43	chr10:22617000-22619400	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr10:22617200-22619400	Strong transcription	Primary hematopoietic stem cells	blood
45	chr10:22617200-22620800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr10:22617400-22619400	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr10:22617400-22619400	Strong transcription	Duodenum Mucosa	Duodenum
48	chr10:22617400-22619400	Strong transcription	NH-A	brain
49	chr10:22617600-22619200	Strong transcription	Brain Anterior Caudate	brain
50	chr10:22617800-22619200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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