Variant report

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1323816	0.83[YRI][hapmap]
rs1323819	0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs1323820	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1323824	0.87[CHB][hapmap];0.86[CHD][hapmap];0.85[JPT][hapmap];0.98[LWK][hapmap];0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1323825	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs1323827	0.82[CHB][hapmap];0.85[CHD][hapmap]
rs1408138	0.87[LWK][hapmap]
rs1886140	0.86[CHB][hapmap];0.88[CHD][hapmap];0.83[ASN][1000 genomes]
rs1924265	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2406280	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2406282	0.82[CHB][hapmap];0.90[CHD][hapmap]
rs3118050	0.87[YRI][hapmap]
rs3118053	0.94[ASW][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.84[MEX][hapmap];0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs3118054	0.83[AFR][1000 genomes]
rs3118055	0.82[ASW][hapmap];0.91[CHD][hapmap];0.82[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs3118058	0.82[CHB][hapmap];0.90[CHD][hapmap]
rs3118059	0.85[CHD][hapmap]
rs3118063	0.81[CHB][hapmap];0.80[JPT][hapmap]
rs3131735	0.87[YRI][hapmap]
rs3131738	0.82[CHB][hapmap];0.85[YRI][hapmap]
rs3131740	0.82[CHB][hapmap];0.84[JPT][hapmap];0.82[AFR][1000 genomes]
rs3131741	0.94[ASW][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.85[LWK][hapmap];0.84[MEX][hapmap];0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs3131743	0.85[CHD][hapmap]
rs3131745	0.82[CHB][hapmap];0.90[CHD][hapmap]
rs927612	0.82[CHB][hapmap];0.90[CHD][hapmap]
rs978786	0.91[AFR][1000 genomes]

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	nsv1015057	chr1:57976993-58793962	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv530017	chr1:58002290-58669736	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv431379	chr1:58224212-58802608	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1323821	BSND	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:58222400-58232800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:58222600-58226400	Weak transcription	Fetal Heart	heart
3	chr1:58223200-58226200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr1:58225400-58226000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:58225600-58226000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:58225600-58226000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr1:58225600-58226000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr1:58225600-58226600	Enhancers	H9 Cell Line	embryonic stem cell
9	chr1:58225800-58226000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr1:58225800-58226000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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