Variant report

Variant	rs747383
Chromosome Location	chr13:39848509-39848510
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:39847798..39849106-chr13:40186090..40186812,3	MCF-7	breast:
2	chr13:39847871..39848539-chr13:40250173..40250781,3	MCF-7	breast:
3	chr13:39847786..39848754-chr13:40185411..40186547,5	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1333439	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1924315	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2147127	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2324258	0.81[CEU][hapmap]
rs4340188	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6563698	0.85[JPT][hapmap]
rs7318557	0.84[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs7321424	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7335060	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7338314	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs746076	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7986707	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7988864	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7995844	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9285131	0.80[ASN][1000 genomes]
rs9315671	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9315675	0.84[ASN][1000 genomes]
rs9532371	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9532372	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9548722	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9548729	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9548731	0.82[EUR][1000 genomes]
rs9548733	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs957184	0.82[ASN][1000 genomes]
rs9576776	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9576777	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs987848	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv900007	chr13:39801283-39849423	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1036674	chr13:39841482-40008117	Bivalent Enhancer Genic enhancers Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39843000-39848600	Weak transcription	Left Ventricle	heart
2	chr13:39847200-39849200	Enhancers	Brain Germinal Matrix	brain
3	chr13:39847800-39848800	Enhancers	Fetal Kidney	kidney
4	chr13:39847800-39849200	Enhancers	Brain Hippocampus Middle	brain
5	chr13:39847800-39850200	Enhancers	Brain Substantia Nigra	brain
6	chr13:39848000-39848600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr13:39848000-39848600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr13:39848000-39848800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr13:39848000-39849000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr13:39848200-39849000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr13:39848200-39849400	Enhancers	Right Atrium	heart
12	chr13:39848200-39849600	Enhancers	Adipose Nuclei	Adipose
13	chr13:39848200-39849600	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr13:39848400-39848800	Enhancers	Liver	Liver
15	chr13:39848400-39849000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr13:39848400-39849000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
17	chr13:39848400-39849000	Enhancers	Small Intestine	intestine

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