Variant report

Variant	rs10209875
Chromosome Location	chr2:180134818-180134819
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:180127590..180133149-chr2:180134052..180141026,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000187231	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10176828	1.00[CHB][hapmap]
rs10208882	1.00[CHB][hapmap]
rs10221811	1.00[CHB][hapmap]
rs12105843	1.00[CHB][hapmap]
rs12613089	1.00[CHB][hapmap]
rs12616452	1.00[CHB][hapmap]
rs12618724	0.90[ASN][1000 genomes]
rs13383806	1.00[CHB][hapmap]
rs13387502	0.90[ASN][1000 genomes]
rs13395559	1.00[CHB][hapmap]
rs13408774	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs13417112	1.00[ASN][1000 genomes]
rs13422693	1.00[CHB][hapmap]
rs13424092	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs13429191	0.90[ASN][1000 genomes]
rs16866647	1.00[CHB][hapmap]
rs35041512	1.00[ASN][1000 genomes]
rs7578417	1.00[CHB][hapmap]
rs7588135	1.00[CHB][hapmap]
rs7608106	1.00[CHB][hapmap]
rs9288024	1.00[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004693	chr2:179933683-180265288	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv834472	chr2:180091670-180220448	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180130000-180135200	Weak transcription	Brain Angular Gyrus	brain
2	chr2:180130000-180137200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:180130000-180138000	Weak transcription	Gastric	stomach
4	chr2:180130000-180138200	Weak transcription	Aorta	Aorta
5	chr2:180130000-180141000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:180130000-180141200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:180130200-180136200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr2:180130200-180137200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:180130200-180137200	Weak transcription	NH-A	brain
10	chr2:180130400-180136000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr2:180130400-180137400	Weak transcription	Fetal Intestine Large	intestine
12	chr2:180130400-180138400	Weak transcription	Colon Smooth Muscle	Colon
13	chr2:180130400-180139200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:180130600-180138200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:180130800-180135400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr2:180133400-180137200	Weak transcription	NHDF-Ad	bronchial
17	chr2:180133600-180135400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:180133600-180136000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:180133600-180136200	Weak transcription	Brain Substantia Nigra	brain
20	chr2:180133600-180138800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr2:180133600-180138800	Weak transcription	Placenta	Placenta
22	chr2:180133600-180140200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:180133800-180135000	Weak transcription	Brain Hippocampus Middle	brain
24	chr2:180133800-180136000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:180133800-180136200	Weak transcription	Adipose Nuclei	Adipose
26	chr2:180133800-180136200	Weak transcription	HUVEC	blood vessel
27	chr2:180133800-180136200	Weak transcription	Osteobl	bone
28	chr2:180133800-180137200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:180133800-180137200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:180133800-180138800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr2:180133800-180138800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr2:180133800-180139200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:180133800-180141200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:180134000-180135200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:180134000-180135200	Weak transcription	HepG2	liver
36	chr2:180134000-180136000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr2:180134000-180136200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:180134000-180136200	Weak transcription	A549	lung
39	chr2:180134000-180136200	Weak transcription	HMEC	breast
40	chr2:180134000-180136200	Weak transcription	NHEK	skin
41	chr2:180134000-180136600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:180134000-180139400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr2:180134000-180142200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:180134200-180135200	Weak transcription	Hela-S3	cervix
45	chr2:180134200-180137400	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr2:180134600-180136000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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