Variant report

Variant	rs2511578
Chromosome Location	chr8:105237230-105237231
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1156813	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1158644	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1374517	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs1374519	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1447063	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1447079	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1447080	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1447081	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1447082	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1470522	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1868015	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2028946	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2121548	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2121553	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2121554	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2166641	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2166644	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2441792	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs2441793	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2441797	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2441798	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2441799	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2441804	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2441810	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2441822	0.91[EUR][1000 genomes]
rs2441892	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2441897	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2441906	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2511565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs2511567	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs2511579	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2511581	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511582	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511583	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511592	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2511593	0.87[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2511596	0.91[EUR][1000 genomes]
rs2511599	0.91[EUR][1000 genomes]
rs2511600	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2511601	0.91[EUR][1000 genomes]
rs2511647	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73302974	1.00[ASN][1000 genomes]
rs7825885	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs994065	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1847227	chr8:105025912-105251147	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv891251	chr8:105054446-105283340	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv831416	chr8:105137789-105296965	Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	esv2762762	chr8:105189986-105247833	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 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	chr8:105235200-105237400	Bivalent/Poised TSS	Fetal Kidney	kidney
2	chr8:105236600-105237400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:105236800-105237400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:105236800-105239200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:105236800-105242600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr8:105236800-105257200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:105237000-105237600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr8:105237000-105237600	Enhancers	HMEC	breast
9	chr8:105237000-105237800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:105237200-105238200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr8:105237200-105243400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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