Variant report

Variant	rs4245146
Chromosome Location	chr11:113317973-113317974
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11214613	0.82[CHB][hapmap]
rs11601054	0.81[TSI][hapmap]
rs4245147	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4245148	0.88[CHB][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs4274224	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.94[MKK][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4460839	0.86[CHB][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs4581480	0.88[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs4936270	0.88[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs4936271	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MKK][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4936272	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4936274	0.82[CHB][hapmap]

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	nsv556444	chr11:113234432-113383394	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv898394	chr11:113298339-113341391	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
3	esv1821565	chr11:113306765-113331532	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:113313400-113318800	Weak transcription	Brain Anterior Caudate	brain
2	chr11:113315000-113320600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr11:113316000-113320200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:113316200-113319800	Enhancers	HMEC	breast
5	chr11:113316400-113319600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:113316400-113319600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:113316400-113320200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:113316600-113318600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:113317400-113318400	Weak transcription	NH-A	brain
10	chr11:113317400-113318400	Weak transcription	Osteobl	bone
11	chr11:113317400-113318600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr11:113317600-113318000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:113317600-113318000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:113317600-113318400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr11:113317800-113318200	Enhancers	NHEK	skin

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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