Variant report

Variant	esv3382581
Chromosome Location	chr2:10424239-10424743
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10423718..10426925-chr2:10546888..10550753,3	MCF-7	breast:
2	chr2:10421389..10428688-chr2:10440606..10446723,13	MCF-7	breast:
3	chr2:10414107..10415744-chr2:10422290..10425033,2	K562	blood:
4	chr2:10421994..10428607-chr2:10439137..10445249,17	MCF-7	breast:
5	chr2:10424312..10426665-chr2:10442705..10445320,2	K562	blood:
6	chr2:10412779..10415250-chr2:10424064..10426883,2	MCF-7	breast:
7	chr2:10410318..10412062-chr2:10423255..10425080,2	K562	blood:
8	chr2:10423354..10425763-chr2:10586960..10588617,2	K562	blood:
9	chr2:10423331..10426574-chr2:10438305..10440403,3	K562	blood:
10	chr2:10424582..10428007-chr2:10430284..10432501,3	K562	blood:
11	chr2:10423049..10425763-chr20:46130120..46132260,2	MCF-7	breast:
12	chr2:10407016..10409073-chr2:10423584..10425357,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000115756	chromatin interactions
ENSG00000206633	chromatin interactions
ENSG00000124151	chromatin interactions
ENSG00000115758	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181663695	chr2:10424284-10424285	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs372191567	chr2:10424322-10424323	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs116830940	chr2:10424330-10424331	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs186999525	chr2:10424345-10424346	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs534607511	chr2:10424369-10424370	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs369126152	chr2:10424392-10424393	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs553273722	chr2:10424418-10424419	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs571509657	chr2:10424438-10424439	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs539531058	chr2:10424442-10424443	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs569607439	chr2:10424482-10424483	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs539037432	chr2:10424609-10424610	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs557461214	chr2:10424615-10424616	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs575795096	chr2:10424683-10424684	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs4669565	chr2:10424693-10424694	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs189794537	chr2:10424739-10424740	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Breast cancer	22522925	CNVD
Neuroblastoma	18923524	CNVD
Pancreatic cancer	17952125	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10418400-10424800	Weak transcription	Right Ventricle	heart
2	chr2:10418800-10424600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:10419200-10424600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:10419200-10424800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr2:10419200-10425400	Weak transcription	Colonic Mucosa	Colon
6	chr2:10419600-10425400	Weak transcription	Pancreas	Pancrea
7	chr2:10420400-10425800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:10421600-10426200	Enhancers	K562	blood
9	chr2:10421800-10429400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr2:10422000-10425600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:10422000-10427200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:10422200-10425400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr2:10422200-10425600	Enhancers	HSMM	muscle
14	chr2:10422200-10427000	Enhancers	NHDF-Ad	bronchial
15	chr2:10422200-10427800	Enhancers	HMEC	breast
16	chr2:10422400-10425600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:10422400-10425600	Enhancers	A549	lung
18	chr2:10422400-10426400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:10422400-10426800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:10422400-10427000	Enhancers	NH-A	brain
21	chr2:10422400-10427000	Enhancers	Osteobl	bone
22	chr2:10422600-10425800	Enhancers	Brain Hippocampus Middle	brain
23	chr2:10422600-10426800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:10422600-10427000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:10422800-10424400	Weak transcription	Liver	Liver
26	chr2:10422800-10426000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:10422800-10427200	Enhancers	Adipose Nuclei	Adipose
28	chr2:10422800-10427400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:10422800-10427400	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr2:10422800-10427400	Enhancers	Brain Substantia Nigra	brain
31	chr2:10422800-10427600	Enhancers	Brain Anterior Caudate	brain
32	chr2:10422800-10428000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:10423000-10424400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr2:10423000-10425200	Enhancers	HepG2	liver
35	chr2:10423000-10425600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:10423000-10426400	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr2:10423000-10426400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:10423000-10426800	Enhancers	HUVEC	blood vessel
39	chr2:10423000-10427400	Enhancers	Brain Cingulate Gyrus	brain
40	chr2:10423000-10427600	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr2:10423200-10425400	Weak transcription	Lung	lung
42	chr2:10423200-10425400	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr2:10423200-10426800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:10423400-10424400	Weak transcription	Brain Angular Gyrus	brain
45	chr2:10423400-10424400	Weak transcription	Fetal Muscle Leg	muscle
46	chr2:10423400-10425200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr2:10423400-10425200	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr2:10423400-10425400	Weak transcription	Duodenum Mucosa	Duodenum
49	chr2:10423400-10426800	Enhancers	Spleen	Spleen
50	chr2:10423400-10427000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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