Variant report

Variant	rs41317901
Chromosome Location	chr12:48388302-48388303
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:48387141..48389064-chr12:48389409..48391360,2	MCF-7	breast:
2	chr12:48375884..48381022-chr12:48386743..48391938,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139219	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs41272773	1.00[EUR][1000 genomes]
rs41317879	1.00[EUR][1000 genomes]
rs41317931	1.00[EUR][1000 genomes]
rs56932369	1.00[EUR][1000 genomes]
rs58559329	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832401	chr12:48347453-48477999	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv899061	chr12:48360620-48389023	Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv519659	chr12:48366449-48389245	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48376800-48391000	Weak transcription	Fetal Intestine Large	intestine
2	chr12:48381400-48388800	Weak transcription	Fetal Intestine Small	intestine
3	chr12:48382800-48394600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr12:48383000-48388400	Weak transcription	Psoas Muscle	Psoas
5	chr12:48383800-48393800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:48383800-48394400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:48385200-48391600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:48385600-48389000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr12:48385600-48389600	Weak transcription	Right Atrium	heart
10	chr12:48385800-48389600	Weak transcription	Left Ventricle	heart
11	chr12:48385800-48389600	Weak transcription	Lung	lung
12	chr12:48386000-48389600	Weak transcription	Right Ventricle	heart
13	chr12:48386400-48389800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr12:48386800-48392800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:48387000-48391600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:48387600-48389000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:48387600-48390200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:48388000-48388400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr12:48388000-48388600	Bivalent Enhancer	Brain Germinal Matrix	brain
20	chr12:48388000-48391400	Enhancers	Fetal Brain Male	brain

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