Variant report

Variant	rs13228738
Chromosome Location	chr7:80250811-80250812
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10216184	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.88[MEX][hapmap];0.98[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10238304	0.81[EUR][1000 genomes]
rs10240336	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10247260	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10261849	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10261980	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10265215	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10265457	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10265780	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10268340	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10268404	0.84[CEU][hapmap]
rs10268417	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs10268662	0.83[EUR][1000 genomes]
rs10268765	0.83[EUR][1000 genomes]
rs10275699	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12532196	0.96[CEU][hapmap];0.99[EUR][1000 genomes]
rs12667404	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12706916	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13222488	0.96[EUR][1000 genomes]
rs13225492	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs13244883	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1464792	0.96[CEU][hapmap];0.99[EUR][1000 genomes]
rs1524596	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1722506	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs1722507	0.84[CEU][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs17263407	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1761663	0.84[CEU][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes]
rs1949818	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs1953300	0.93[EUR][1000 genomes]
rs1984112	0.99[EUR][1000 genomes]
rs2030710	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2030711	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2065666	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2065668	0.91[EUR][1000 genomes]
rs2151916	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2691199	0.83[EUR][1000 genomes]
rs2691200	0.83[EUR][1000 genomes]
rs28369066	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28600997	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28645928	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3173800	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3211816	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs3211820	0.88[CEU][hapmap]
rs3211822	0.88[CEU][hapmap]
rs3211827	0.96[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3211834	0.88[CEU][hapmap]
rs3211871	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3211886	0.96[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.89[TSI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34493313	1.00[EUR][1000 genomes]
rs34801616	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62461673	0.96[EUR][1000 genomes]
rs62461690	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62461693	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62461695	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62461724	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6965070	0.88[EUR][1000 genomes]
rs6968407	0.92[CEU][hapmap];0.96[EUR][1000 genomes]
rs6969989	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6972923	0.83[CEU][hapmap];0.83[EUR][1000 genomes]
rs6973242	0.92[CEU][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs7784648	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7789369	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7795092	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7806711	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7807445	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs997906	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv831043	chr7:80119414-80322092	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv948605	chr7:80119690-80298887	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1020682	chr7:80120651-80297697	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv464606	chr7:80177084-80311794	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv607682	chr7:80177084-80311794	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv1025144	chr7:80197286-80271841	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1026688	chr7:80231657-80307236	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
9	nsv1020745	chr7:80231657-80309495	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
10	nsv888526	chr7:80240943-80354229	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
11	nsv888527	chr7:80248029-80279460	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr7:80241000-80251200	Weak transcription	Psoas Muscle	Psoas
2	chr7:80242200-80252800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:80244400-80252000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:80244400-80253000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:80244600-80251600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:80244600-80251600	Weak transcription	Osteobl	bone
7	chr7:80244800-80253000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr7:80246400-80251600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr7:80246800-80254000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr7:80247600-80251800	Weak transcription	Fetal Heart	heart
11	chr7:80248000-80251600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:80248200-80251400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr7:80248600-80251400	Weak transcription	NHLF	lung
14	chr7:80249600-80251200	Weak transcription	Adipose Nuclei	Adipose
15	chr7:80250000-80251000	Weak transcription	Left Ventricle	heart
16	chr7:80250000-80251200	Weak transcription	Right Atrium	heart
17	chr7:80250200-80251400	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr7:80250400-80251200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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