Variant report

Variant	rs56278833
Chromosome Location	chr7:117473686-117473687
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	7:115861595-115870968..7:117472637-117491176	Hela-S3	cervix:
2	7:115890993-115892266..7:117472637-117491176	Hela-S3	cervix:
3	7:116434729-116454408..7:117472637-117491176	H1-hESC	embryonic stem cell:	embryo
4	7:116754962-116765597..7:117472637-117491176	Hela-S3	cervix:
5	7:117100350-117112126..7:117472637-117491176	Hela-S3	cervix:
6	7:116728195-116740907..7:117472637-117491176	Hela-S3	cervix:
7	7:116307511-116321259..7:117472637-117491176	Hela-S3	cervix:
8	7:116849860-116864942..7:117472637-117491176	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000001626	Chromatin interaction
ENSG00000105976	Chromatin interaction
ENSG00000004866	Chromatin interaction
ENSG00000135269	Chromatin interaction
ENSG00000226367	Chromatin interaction
ENSG00000198898	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10268431	0.82[AFR][1000 genomes]
rs55994200	0.85[AFR][1000 genomes]
rs57627307	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6942670	0.91[AFR][1000 genomes]
rs7800668	0.82[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869971	chr7:117420583-118274149	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117456600-117478200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:117460000-117474800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr7:117468400-117474600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr7:117468400-117474800	Weak transcription	Fetal Intestine Small	intestine
5	chr7:117468400-117475000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:117468400-117475000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:117468600-117474600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:117469000-117475200	Weak transcription	Fetal Kidney	kidney
9	chr7:117469000-117503600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:117469200-117475000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:117469400-117503800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr7:117469600-117474800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr7:117469600-117511800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:117469800-117477800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:117469800-117484000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr7:117469800-117484000	Weak transcription	Aorta	Aorta
17	chr7:117469800-117493800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:117470000-117474000	Weak transcription	NH-A	brain
19	chr7:117470000-117474800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr7:117470000-117475000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr7:117470000-117475400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:117470800-117493800	Weak transcription	Fetal Brain Male	brain
23	chr7:117470800-117495200	Weak transcription	Brain Germinal Matrix	brain
24	chr7:117471200-117483800	Weak transcription	Fetal Brain Female	brain
25	chr7:117471400-117475000	Weak transcription	Adipose Nuclei	Adipose
26	chr7:117471400-117475000	Weak transcription	Brain Angular Gyrus	brain
27	chr7:117471400-117475400	Weak transcription	Fetal Stomach	stomach
28	chr7:117471600-117475000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:117471600-117483200	Weak transcription	Fetal Lung	lung
30	chr7:117471800-117474600	Weak transcription	Ovary	ovary
31	chr7:117471800-117475200	Weak transcription	Brain Substantia Nigra	brain
32	chr7:117471800-117475200	Weak transcription	Fetal Heart	heart
33	chr7:117471800-117478000	Weak transcription	Pancreas	Pancrea
34	chr7:117472000-117474400	Weak transcription	Brain Anterior Caudate	brain
35	chr7:117472000-117475000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr7:117473200-117473800	Enhancers	Brain Cingulate Gyrus	brain
37	chr7:117473200-117473800	Enhancers	Brain Hippocampus Middle	brain
38	chr7:117473200-117473800	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr7:117473200-117474000	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr7:117473200-117474000	Strong transcription	NHLF	lung

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