Variant report

Variant	rs10166788
Chromosome Location	chr2:180136431-180136432
allele	A/G
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	USF2	chr2:180136429-180136561	Hela-S3	cervix:	n/a	n/a

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
ENSG00000237477	TF binding region
ENSG00000187231	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10197425	0.88[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10439300	1.00[CHB][hapmap]
rs10803924	1.00[CHB][hapmap]
rs12693175	0.80[CEU][hapmap]
rs12989055	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12997079	1.00[CEU][hapmap]
rs17363267	0.88[CEU][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:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180130000-180137200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:180130000-180138000	Weak transcription	Gastric	stomach
3	chr2:180130000-180138200	Weak transcription	Aorta	Aorta
4	chr2:180130000-180141000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:180130000-180141200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:180130200-180137200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:180130200-180137200	Weak transcription	NH-A	brain
8	chr2:180130400-180137400	Weak transcription	Fetal Intestine Large	intestine
9	chr2:180130400-180138400	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:180130400-180139200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:180130600-180138200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:180133400-180137200	Weak transcription	NHDF-Ad	bronchial
13	chr2:180133600-180138800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr2:180133600-180138800	Weak transcription	Placenta	Placenta
15	chr2:180133600-180140200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:180133800-180137200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:180133800-180137200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:180133800-180138800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:180133800-180138800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr2:180133800-180139200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:180133800-180141200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:180134000-180136600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:180134000-180139400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr2:180134000-180142200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:180134200-180137400	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr2:180135000-180138200	Enhancers	Brain Hippocampus Middle	brain
27	chr2:180135200-180136800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:180135200-180137000	Enhancers	HepG2	liver
29	chr2:180135200-180137200	Enhancers	Hela-S3	cervix
30	chr2:180135200-180140400	Enhancers	Brain Angular Gyrus	brain
31	chr2:180135400-180140200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:180135600-180137200	Weak transcription	HSMM	muscle
33	chr2:180136000-180136800	Enhancers	Brain Cingulate Gyrus	brain
34	chr2:180136000-180137000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:180136000-180137000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:180136000-180137200	Enhancers	Muscle Satellite Cultured Cells	--
37	chr2:180136000-180137400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:180136200-180136800	Enhancers	Adipose Nuclei	Adipose
39	chr2:180136200-180136800	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr2:180136200-180137200	Enhancers	Brain Anterior Caudate	brain
41	chr2:180136200-180137200	Enhancers	A549	lung
42	chr2:180136200-180137200	Enhancers	Osteobl	bone
43	chr2:180136200-180137400	Enhancers	Brain Substantia Nigra	brain
44	chr2:180136200-180137400	Enhancers	HMEC	breast
45	chr2:180136200-180137600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:180136200-180137600	Enhancers	Stomach Mucosa	stomach
47	chr2:180136200-180138200	Enhancers	HUVEC	blood vessel
48	chr2:180136200-180138200	Enhancers	NHEK	skin
49	chr2:180136400-180136600	Enhancers	Esophagus	oesophagus
50	chr2:180136400-180137800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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