Variant report

Variant	rs57175680
Chromosome Location	chr2:212795244-212795245
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:212794506..212797182-chr2:212824711..212826416,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178568	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12997949	0.94[ASN][1000 genomes]
rs12998591	0.82[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs13025703	0.81[ASN][1000 genomes]
rs16847207	0.84[ASN][1000 genomes]
rs16847218	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16847357	0.83[ASN][1000 genomes]
rs17414925	0.81[ASN][1000 genomes]
rs2139936	0.89[ASN][1000 genomes]
rs2139937	0.85[ASN][1000 genomes]
rs2579980	0.92[ASN][1000 genomes]
rs34306926	0.87[ASN][1000 genomes]
rs3452	0.90[ASN][1000 genomes]
rs34765931	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs67565187	0.87[ASN][1000 genomes]
rs839509	0.90[ASN][1000 genomes]
rs839511	0.90[ASN][1000 genomes]
rs839525	0.89[ASN][1000 genomes]
rs839526	0.89[ASN][1000 genomes]
rs839527	0.89[ASN][1000 genomes]
rs839528	0.90[ASN][1000 genomes]
rs839530	0.92[ASN][1000 genomes]
rs839536	0.94[ASN][1000 genomes]

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	esv34128	chr2:212581485-212857122	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv834525	chr2:212693190-212860356	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212791600-212800200	Weak transcription	Aorta	Aorta
2	chr2:212792200-212796600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr2:212792200-212796800	Enhancers	Dnd41	blood
4	chr2:212792600-212796400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:212793600-212796200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:212794400-212795600	Weak transcription	Fetal Thymus	thymus
7	chr2:212794400-212796200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:212794600-212795800	Enhancers	GM12878-XiMat	blood
9	chr2:212794600-212796600	Enhancers	Primary hematopoietic stem cells	blood
10	chr2:212794800-212796200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:212795000-212795400	Flanking Active TSS	Primary T cells from cord blood	blood
12	chr2:212795000-212795400	Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr2:212795000-212795600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr2:212795000-212795600	Active TSS	Brain Anterior Caudate	brain
15	chr2:212795000-212796000	Enhancers	Brain Germinal Matrix	brain
16	chr2:212795000-212796400	Enhancers	Fetal Heart	heart
17	chr2:212795000-212796400	Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr2:212795200-212795400	Enhancers	Brain Angular Gyrus	brain
19	chr2:212795200-212796200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:212795200-212796200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr2:212795200-212796400	Enhancers	HMEC	breast
22	chr2:212795200-212796800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:212795200-212796800	Enhancers	NHEK	skin

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