Variant report

Variant	rs11252259
Chromosome Location	chr10:4048857-4048858
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10751953	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10795121	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10904169	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11252271	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12241918	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4242769	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4880656	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4880657	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4880658	0.95[ASN][1000 genomes]
rs7077002	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7919822	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8181410	0.83[AMR][1000 genomes];0.88[EUR][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	nsv1051297	chr10:3908706-4277678	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv894784	chr10:3985194-4051081	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
3	nsv831772	chr10:4039292-4212218	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2762838	chr10:4048172-4054844	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4043400-4055800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr10:4047400-4049400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr10:4047400-4051800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr10:4047400-4055800	Weak transcription	Psoas Muscle	Psoas
5	chr10:4047400-4058400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr10:4047600-4049000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr10:4047600-4049000	Enhancers	Stomach Smooth Muscle	stomach
8	chr10:4047800-4049000	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr10:4047800-4050200	Enhancers	Placenta	Placenta
10	chr10:4048200-4049200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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