Variant report

Variant	rs71198493
Chromosome Location	chr13:39419154-39419155
allele	CA/TG
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:39417946..39420747-chr13:39428999..39430936,2	MCF-7	breast:
2	chr13:39417841..39420458-chr13:39422744..39425359,3	MCF-7	breast:
3	chr13:39417729..39421229-chr13:39421546..39423980,3	K562	blood:
4	chr13:39418531..39421229-chr13:39421546..39423488,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12164864	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1333507	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4280113	0.96[AFR][1000 genomes]
rs4303350	0.96[AFR][1000 genomes]
rs4505188	0.86[EUR][1000 genomes]
rs4536338	0.96[AFR][1000 genomes]
rs4587830	0.96[ASN][1000 genomes]
rs6563638	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6563639	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6563641	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7322839	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7323599	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7329868	0.99[ASN][1000 genomes]
rs7337847	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9315615	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9532289	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9532291	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9548469	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9548470	0.97[ASN][1000 genomes]
rs9548472	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9548510	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9548511	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9548512	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9594299	0.97[ASN][1000 genomes]
rs9603441	0.85[EUR][1000 genomes]
rs9603444	0.90[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs9603446	0.90[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs9603451	0.99[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	nsv832585	chr13:39233307-39424375	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39389400-39423000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr13:39394600-39423000	Weak transcription	Fetal Kidney	kidney
3	chr13:39414000-39420800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr13:39414600-39422600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr13:39414600-39425400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr13:39416200-39450200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr13:39418400-39419600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr13:39418600-39420200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr13:39418800-39419200	Enhancers	Fetal Heart	heart
10	chr13:39418800-39419600	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr13:39419000-39419200	Enhancers	H9 Cell Line	embryonic stem cell
12	chr13:39419000-39430200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr13:39419000-39449800	Weak transcription	H1 Cell Line	embryonic stem cell

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