Variant report

Variant	rs2479778
Chromosome Location	chr13:29648250-29648251
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs1006810	0.84[CEU][hapmap];0.84[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11620188	0.83[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs12858770	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1322383	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1467578	0.85[JPT][hapmap]
rs1467579	0.86[JPT][hapmap]
rs1536718	0.86[JPT][hapmap]
rs1536719	0.86[JPT][hapmap]
rs1536720	0.86[JPT][hapmap]
rs1575301	0.85[JPT][hapmap]
rs1590277	0.96[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs167833	0.86[ASN][1000 genomes]
rs184467	0.96[ASN][1000 genomes]
rs187333	0.86[ASN][1000 genomes]
rs1887751	0.86[JPT][hapmap]
rs1887752	0.86[JPT][hapmap]
rs191265	0.86[ASN][1000 genomes]
rs2077255	0.89[CHB][hapmap];0.80[JPT][hapmap]
rs2146139	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2146140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2149322	0.86[JPT][hapmap]
rs2181182	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2181183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2182990	0.86[JPT][hapmap]
rs2475512	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2475514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2475515	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2475518	0.94[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs2475519	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2475520	0.89[ASN][1000 genomes]
rs2475523	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2475524	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2475525	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2475533	0.86[JPT][hapmap]
rs2475534	0.86[JPT][hapmap]
rs2475537	0.90[JPT][hapmap]
rs2475546	0.87[ASN][1000 genomes]
rs2475548	0.89[ASN][1000 genomes]
rs2475550	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2475551	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2479779	0.94[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs2479781	0.94[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs2479785	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2479786	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2479787	0.94[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs2479798	0.85[JPT][hapmap]
rs2479801	0.83[JPT][hapmap]
rs2479803	0.86[JPT][hapmap]
rs2987344	0.94[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs2987345	0.86[JPT][hapmap]
rs326513	0.86[ASN][1000 genomes]
rs326514	0.86[ASN][1000 genomes]
rs326515	0.86[ASN][1000 genomes]
rs326517	0.89[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs326524	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs326526	0.94[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs4262810	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4769676	0.89[ASN][1000 genomes]
rs6490346	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs68008399	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs685778	0.86[JPT][hapmap]
rs7317087	0.90[CHB][hapmap];0.84[JPT][hapmap]
rs7324366	0.82[JPT][hapmap]
rs7326464	0.89[CHB][hapmap];0.80[JPT][hapmap]
rs7328602	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs7331544	0.82[JPT][hapmap]
rs7332330	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs7334488	0.86[JPT][hapmap]
rs7337190	0.89[CHB][hapmap];0.80[JPT][hapmap]
rs7339409	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs745423	0.89[CHB][hapmap];0.80[JPT][hapmap]
rs754395	0.89[CHB][hapmap];0.80[JPT][hapmap]
rs7981689	0.86[JPT][hapmap]
rs7985792	0.86[JPT][hapmap]
rs7987444	0.86[JPT][hapmap]
rs913494	0.89[CHB][hapmap];0.80[JPT][hapmap]
rs9314927	0.85[CHB][hapmap];0.85[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9314934	0.86[JPT][hapmap]
rs9506080	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs9506087	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9506089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9506098	0.86[JPT][hapmap]
rs9506099	0.86[JPT][hapmap]
rs9506100	0.85[JPT][hapmap]
rs9506102	0.86[JPT][hapmap]
rs9506103	0.86[JPT][hapmap]
rs9506110	0.83[JPT][hapmap]
rs9508235	0.89[CHB][hapmap]
rs9508238	0.81[ASN][1000 genomes]
rs9508271	0.86[JPT][hapmap]
rs9508279	0.86[JPT][hapmap]
rs9550435	0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs9550436	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9550437	1.00[CEU][hapmap];0.84[CHB][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9551598	1.00[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9551599	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9578072	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs9579284	0.80[JPT][hapmap]

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	nsv533835	chr13:29141132-29962069	Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	esv3406145	chr13:29616606-29917459	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:29640800-29650600	Weak transcription	Aorta	Aorta
2	chr13:29646000-29648800	Enhancers	Fetal Heart	heart
3	chr13:29647000-29648800	Enhancers	H1 Cell Line	embryonic stem cell
4	chr13:29647200-29648600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr13:29647600-29649000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr13:29647800-29648600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr13:29647800-29648800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr13:29648200-29648400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr13:29648200-29648600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr13:29648200-29648600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr13:29648200-29648600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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