Variant report

Variant	rs2602863
Chromosome Location	chr4:100034337-100034338
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1042364	0.80[EUR][1000 genomes]
rs1042365	0.80[EUR][1000 genomes]
rs1133485	0.80[EUR][1000 genomes]
rs1377689	0.80[EUR][1000 genomes]
rs1453874	0.80[EUR][1000 genomes]
rs1840228	0.80[EUR][1000 genomes]
rs1840230	0.80[EUR][1000 genomes]
rs1840231	0.81[EUR][1000 genomes]
rs2034696	0.80[EUR][1000 genomes]
rs2602845	0.80[EUR][1000 genomes]
rs2602846	0.80[EUR][1000 genomes]
rs2602847	0.80[EUR][1000 genomes]
rs2602855	0.80[EUR][1000 genomes]
rs2602858	0.80[EUR][1000 genomes]
rs2602859	0.80[EUR][1000 genomes]
rs2602864	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2602865	0.90[EUR][1000 genomes]
rs2602866	0.90[EUR][1000 genomes]
rs2602870	0.88[EUR][1000 genomes]
rs2602872	0.88[EUR][1000 genomes]
rs2602873	0.87[EUR][1000 genomes]
rs2602876	0.87[EUR][1000 genomes]
rs2602877	0.88[EUR][1000 genomes]
rs2602878	0.88[EUR][1000 genomes]
rs2602880	0.85[EUR][1000 genomes]
rs2602881	0.86[EUR][1000 genomes]
rs2602882	0.87[EUR][1000 genomes]
rs2602883	0.86[EUR][1000 genomes]
rs2602888	0.86[EUR][1000 genomes]
rs2602891	0.81[EUR][1000 genomes]
rs2602893	0.81[EUR][1000 genomes]
rs2602894	0.80[EUR][1000 genomes]
rs2602896	0.80[EUR][1000 genomes]
rs2602897	0.80[EUR][1000 genomes]
rs2851246	0.80[EUR][1000 genomes]
rs2851247	0.80[EUR][1000 genomes]
rs2851248	0.80[EUR][1000 genomes]
rs2851249	0.80[EUR][1000 genomes]
rs2851252	0.81[EUR][1000 genomes]
rs2851253	0.81[EUR][1000 genomes]
rs2851254	0.81[EUR][1000 genomes]
rs2851255	0.85[EUR][1000 genomes]
rs2851256	0.87[EUR][1000 genomes]
rs2851257	0.87[EUR][1000 genomes]
rs2851258	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2851260	0.90[EUR][1000 genomes]
rs2851261	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2851263	0.80[EUR][1000 genomes]
rs2851268	0.80[EUR][1000 genomes]
rs2851269	0.80[EUR][1000 genomes]
rs2851272	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2851277	0.80[EUR][1000 genomes]
rs2851278	0.80[EUR][1000 genomes]
rs2851280	0.84[EUR][1000 genomes]
rs2851281	0.81[EUR][1000 genomes]
rs29001217	0.82[EUR][1000 genomes]
rs29001229	0.80[EUR][1000 genomes]
rs29001231	0.80[EUR][1000 genomes]
rs29001232	0.80[EUR][1000 genomes]
rs2924580	0.81[EUR][1000 genomes]
rs2924583	0.80[EUR][1000 genomes]
rs2924586	0.84[EUR][1000 genomes]
rs3133153	0.81[EUR][1000 genomes]
rs4235436	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv1002927	chr4:99952472-100148690	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv879656	chr4:99976646-100533722	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1005446	chr4:99988287-100121669	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv537196	chr4:99988287-100121669	Strong transcription ZNF genes & repeats Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1002574	chr4:100023999-100133693	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv3528915	chr4:100025155-100096234	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv3528916	chr4:100025155-100096234	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2602863	ADH5	cis	Whole Blood	GTEx

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100012800-100063800	Weak transcription	Aorta	Aorta
2	chr4:100020600-100034800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr4:100020800-100038600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr4:100021000-100041200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:100023000-100055600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:100025800-100038400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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