Variant report

Variant	rs4650382
Chromosome Location	chr1:78694196-78694197
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1022103	0.90[JPT][hapmap];0.93[YRI][hapmap];0.81[ASN][1000 genomes]
rs10873966	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11162415	0.88[ASN][1000 genomes]
rs11162417	0.83[ASN][1000 genomes]
rs11162425	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11162429	0.95[ASN][1000 genomes]
rs11162437	0.82[AMR][1000 genomes]
rs11579434	0.88[ASN][1000 genomes]
rs12095545	0.94[ASN][1000 genomes]
rs12184300	0.94[ASN][1000 genomes]
rs12758374	0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs1323094	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1770303	0.89[EUR][1000 genomes]
rs1770311	0.89[EUR][1000 genomes]
rs1770313	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1890850	0.95[ASN][1000 genomes]
rs2146612	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2208966	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4650619	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4650620	0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs593113	0.87[EUR][1000 genomes]
rs599386	0.89[CEU][hapmap]
rs600237	0.90[EUR][1000 genomes]
rs616518	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs638232	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs640124	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs649502	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs653899	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs658377	0.91[EUR][1000 genomes]
rs669357	0.90[CEU][hapmap];0.91[EUR][1000 genomes]
rs669764	0.90[CEU][hapmap];0.90[EUR][1000 genomes]
rs671229	0.90[EUR][1000 genomes]
rs672620	0.89[EUR][1000 genomes]
rs680143	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs689374	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7524877	0.88[ASN][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	nsv1013008	chr1:78463173-78958701	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv535012	chr1:78463173-78958701	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78689800-78697800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr1:78689800-78702400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:78689800-78703000	Weak transcription	Pancreas	Pancrea
4	chr1:78693000-78694400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
5	chr1:78693200-78694200	Enhancers	Fetal Stomach	stomach
6	chr1:78693200-78694400	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:78693200-78694400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
8	chr1:78693200-78694600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:78693400-78694400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
10	chr1:78693400-78694800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:78693400-78695200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:78693600-78694200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:78693600-78694400	Enhancers	Fetal Brain Male	brain
14	chr1:78693800-78694200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:78693800-78694400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
16	chr1:78693800-78694600	Enhancers	Brain Germinal Matrix	brain
17	chr1:78694000-78694400	Flanking Active TSS	Liver	Liver
18	chr1:78694000-78695800	Enhancers	Hela-S3	cervix

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