Variant report

Variant	rs12413890
Chromosome Location	chr10:52261890-52261891
allele	C/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:52260554..52263861-chr10:52272806..52275340,3	K562	blood:
2	chr10:52261680..52263393-chr10:52269137..52270888,2	MCF-7	breast:
3	chr10:52261590..52264231-chr10:52382016..52385854,3	MCF-7	breast:
4	chr10:52260913..52263202-chr10:52364630..52366882,2	MCF-7	breast:
5	chr10:52260323..52263504-chr10:52265636..52267832,3	MCF-7	breast:
6	chr10:52233474..52234062-chr10:52261195..52261976,2	MCF-7	breast:
7	chr10:52230115..52234351-chr10:52258743..52262560,5	MCF-7	breast:
8	chr10:52230142..52232797-chr10:52261125..52263960,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000225303	Chromatin interaction
ENSG00000198964	Chromatin interaction
ENSG00000226200	Chromatin interaction
ENSG00000230036	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054775	chr10:51595893-52392361	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1051087	chr10:51886486-52447295	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv916214	chr10:51886486-52458983	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv918212	chr10:51886486-52465482	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv817412	chr10:51911034-52432990	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv895391	chr10:52260398-52291608	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52244800-52262000	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr10:52247000-52271200	Weak transcription	Colon Smooth Muscle	Colon
3	chr10:52249200-52266800	Weak transcription	Primary B cells from cord blood	blood
4	chr10:52253800-52268200	Weak transcription	Fetal Intestine Small	intestine
5	chr10:52255000-52267200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr10:52255400-52266600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr10:52256600-52263000	Weak transcription	Right Ventricle	heart
8	chr10:52258000-52266600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr10:52258000-52266600	Weak transcription	Ovary	ovary
10	chr10:52258000-52267200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr10:52258000-52271800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr10:52260400-52263600	Enhancers	Brain Substantia Nigra	brain
13	chr10:52260600-52264000	Enhancers	Brain Angular Gyrus	brain
14	chr10:52260600-52264000	Enhancers	HepG2	liver
15	chr10:52260800-52262400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr10:52260800-52262400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr10:52260800-52262400	Enhancers	Stomach Mucosa	stomach
18	chr10:52260800-52262400	Enhancers	NHEK	skin
19	chr10:52260800-52264400	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr10:52260800-52264600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr10:52260800-52264600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr10:52260800-52264600	Enhancers	Brain Cingulate Gyrus	brain
23	chr10:52261000-52262000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr10:52261000-52262400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr10:52261000-52268200	Weak transcription	Gastric	stomach
26	chr10:52261200-52264000	Enhancers	Brain Anterior Caudate	brain
27	chr10:52261400-52262000	Enhancers	HSMMtube	muscle
28	chr10:52261400-52262000	Enhancers	Osteobl	bone
29	chr10:52261400-52262200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr10:52261400-52262200	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr10:52261400-52262200	Enhancers	Small Intestine	intestine
32	chr10:52261400-52262400	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr10:52261400-52262400	Enhancers	HMEC	breast
34	chr10:52261400-52262800	Enhancers	K562	blood
35	chr10:52261400-52263800	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr10:52261400-52264000	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr10:52261400-52264400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr10:52261400-52266600	Weak transcription	Fetal Lung	lung
39	chr10:52261600-52262000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr10:52261600-52262200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr10:52261600-52262200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr10:52261600-52262200	Enhancers	Pancreas	Pancrea
43	chr10:52261600-52262400	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr10:52261600-52262400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr10:52261600-52262400	Enhancers	Placenta	Placenta
46	chr10:52261600-52262400	Enhancers	Fetal Stomach	stomach
47	chr10:52261600-52262400	Flanking Active TSS	GM12878-XiMat	blood
48	chr10:52261600-52262400	Enhancers	Hela-S3	cervix
49	chr10:52261600-52262600	Enhancers	Fetal Intestine Large	intestine
50	chr10:52261600-52263600	Enhancers	Primary T cells fromperipheralblood	blood

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