Variant report

Variant	rs1408180
Chromosome Location	chr13:39998559-39998560
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11616809	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1185407	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1323939	1.00[ASW][hapmap];1.00[GIH][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1408177	1.00[MEX][hapmap]
rs1408178	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1408181	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17059785	1.00[MEX][hapmap]
rs17060035	1.00[MEX][hapmap]
rs17060042	1.00[MEX][hapmap]
rs56828330	1.00[EUR][1000 genomes]
rs60460761	1.00[EUR][1000 genomes]
rs73458827	1.00[EUR][1000 genomes]
rs73458831	1.00[EUR][1000 genomes]
rs73458836	1.00[EUR][1000 genomes]
rs73458841	1.00[EUR][1000 genomes]
rs73458846	1.00[EUR][1000 genomes]
rs73458848	1.00[EUR][1000 genomes]
rs73458853	1.00[EUR][1000 genomes]
rs73458854	1.00[EUR][1000 genomes]
rs73458866	1.00[EUR][1000 genomes]
rs73458868	1.00[EUR][1000 genomes]
rs73458870	1.00[EUR][1000 genomes]
rs73458872	1.00[EUR][1000 genomes]
rs73458874	1.00[EUR][1000 genomes]
rs73458876	1.00[EUR][1000 genomes]
rs73458878	1.00[EUR][1000 genomes]
rs73460938	1.00[EUR][1000 genomes]
rs73460941	1.00[EUR][1000 genomes]
rs73460943	1.00[EUR][1000 genomes]
rs73460944	1.00[EUR][1000 genomes]
rs73460945	1.00[EUR][1000 genomes]
rs73460957	1.00[EUR][1000 genomes]
rs73460966	1.00[EUR][1000 genomes]
rs73460972	1.00[EUR][1000 genomes]
rs73460981	1.00[EUR][1000 genomes]
rs7993890	1.00[EUR][1000 genomes]
rs7994955	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs7999497	1.00[EUR][1000 genomes]
rs9315684	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9548762	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9741222	1.00[MEX][hapmap]

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	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
3	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
4	nsv900008	chr13:39962791-40020267	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39992000-40018600	Weak transcription	Right Ventricle	heart
2	chr13:39995200-40001800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr13:39996000-40005600	Weak transcription	NHDF-Ad	bronchial
4	chr13:39997600-39999600	Enhancers	Fetal Heart	heart
5	chr13:39998000-40022200	Weak transcription	Ovary	ovary
6	chr13:39998200-40012200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:39998400-39998800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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