Variant report

Variant	nsv828352
Chromosome Location	chr2:10812594-10813263
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	chr2:10813008-10813053	Fibrobl	skin:	n/a	n/a
2	CTCF	chr2:10813020-10813170	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:10586893..10589050-chr2:10812327..10814508,2	K562	blood:
2	chr2:10811867..10814663-chr2:10828398..10830993,2	MCF-7	breast:

Variant related genes	Relation type
NOL10	TF binding region
ENSG00000257135	chromatin interactions
ENSG00000115758	chromatin interactions
ENSG00000243819	chromatin interactions
ENSG00000206633	chromatin interactions
ENSG00000115761	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550925445	chr2:10812626-10812627	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs535843828	chr2:10812668-10812669	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs546139552	chr2:10812726-10812727	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs116485340	chr2:10812799-10812800	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs554991485	chr2:10812833-10812834	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs566863288	chr2:10812856-10812857	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs112788789	chr2:10812914-10812915	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs73169906	chr2:10812988-10812989	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs577333889	chr2:10812993-10812994	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs566180636	chr2:10813023-10813024	Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs181598815	chr2:10813036-10813037	Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs556470581	chr2:10813044-10813045	Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs574791174	chr2:10813066-10813067	Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs62127212	chr2:10813119-10813120	Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs372610964	chr2:10813120-10813121	Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs76242464	chr2:10813121-10813122	Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs542256979	chr2:10813132-10813133	Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs35502094	chr2:10813134-10813135	Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs1038690	chr2:10813244-10813245	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923524	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:158 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10756200-10828400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:10788000-10827400	Weak transcription	Fetal Brain Male	brain
3	chr2:10788400-10828000	Weak transcription	Fetal Heart	heart
4	chr2:10789000-10820600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:10793800-10828000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:10794000-10823600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:10794200-10817200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:10794600-10828200	Weak transcription	Stomach Mucosa	stomach
9	chr2:10794600-10828400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:10795200-10828800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:10797400-10823600	Weak transcription	Psoas Muscle	Psoas
12	chr2:10799200-10815400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr2:10799200-10826000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr2:10799400-10823200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr2:10799800-10823200	Weak transcription	Colonic Mucosa	Colon
16	chr2:10800200-10829200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:10800400-10812800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:10802400-10828200	Weak transcription	Brain Germinal Matrix	brain
19	chr2:10802600-10812800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr2:10802800-10815400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr2:10802800-10823400	Weak transcription	Brain Hippocampus Middle	brain
22	chr2:10803000-10815000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:10803600-10828600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr2:10805000-10815000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:10805000-10822800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:10805000-10823600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:10805000-10829200	Weak transcription	Aorta	Aorta
28	chr2:10806200-10821400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr2:10806200-10828200	Weak transcription	Brain Substantia Nigra	brain
30	chr2:10806600-10823600	Weak transcription	Ovary	ovary
31	chr2:10806800-10822200	Weak transcription	Thymus	Thymus
32	chr2:10807400-10821600	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr2:10807600-10812800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:10807600-10828000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr2:10807800-10815800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr2:10807800-10821400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr2:10808200-10812800	Weak transcription	Left Ventricle	heart
38	chr2:10808200-10815000	Weak transcription	Primary hematopoietic stem cells	blood
39	chr2:10808200-10820600	Weak transcription	Brain Anterior Caudate	brain
40	chr2:10808200-10820600	Weak transcription	Fetal Brain Female	brain
41	chr2:10808200-10828000	Weak transcription	Gastric	stomach
42	chr2:10808200-10828400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr2:10808400-10812800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr2:10808400-10820400	Weak transcription	Fetal Lung	lung
45	chr2:10808400-10820400	Weak transcription	HSMM	muscle
46	chr2:10808400-10820800	Weak transcription	Brain Angular Gyrus	brain
47	chr2:10808400-10820800	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr2:10808400-10820800	Weak transcription	NHDF-Ad	bronchial
49	chr2:10808400-10821000	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr2:10808400-10828000	Weak transcription	NHLF	lung

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