Variant report

Variant	rs7320516
Chromosome Location	chr13:39643400-39643401
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1078421	0.85[ASN][1000 genomes]
rs12430086	0.89[CEU][hapmap]
rs1326404	0.89[CEU][hapmap];0.93[GIH][hapmap];0.94[TSI][hapmap];0.86[EUR][1000 genomes]
rs1409442	0.84[EUR][1000 genomes]
rs1536342	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1853970	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1887111	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1926471	0.95[ASN][1000 genomes]
rs2094250	0.86[AFR][1000 genomes]
rs2094251	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2148418	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2324125	0.89[ASN][1000 genomes]
rs2324160	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3751376	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs3865000	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs55713408	0.81[ASN][1000 genomes]
rs6563660	0.89[CEU][hapmap]
rs71215982	0.80[ASN][1000 genomes]
rs7324256	0.93[ASW][hapmap];0.89[CEU][hapmap];0.91[GIH][hapmap];0.95[MEX][hapmap];0.81[TSI][hapmap]
rs7489497	0.88[EUR][1000 genomes]
rs9315647	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9315650	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9532325	0.81[ASN][1000 genomes]
rs9548594	0.95[ASN][1000 genomes]
rs9548610	0.94[ASN][1000 genomes]
rs9548612	0.90[ASN][1000 genomes]
rs9566395	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9576723	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9603503	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9888511	0.89[CEU][hapmap];0.93[GIH][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2753642	chr13:39522300-39649000	Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv2753553	chr13:39526600-39649000	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1035255	chr13:39618302-39715336	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39613200-39647000	Weak transcription	Left Ventricle	heart
2	chr13:39613200-39647200	Weak transcription	Lung	lung
3	chr13:39613400-39646600	Weak transcription	Aorta	Aorta
4	chr13:39614400-39644000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr13:39618600-39643800	Weak transcription	Ovary	ovary
6	chr13:39620000-39644200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr13:39624000-39644400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr13:39628000-39644000	Weak transcription	Dnd41	blood
9	chr13:39628000-39645400	Weak transcription	Primary B cells from cord blood	blood
10	chr13:39628000-39645800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr13:39628200-39643600	Weak transcription	Liver	Liver
12	chr13:39628200-39646800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr13:39628400-39645000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr13:39635000-39644200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr13:39635800-39646600	Weak transcription	Fetal Muscle Leg	muscle
16	chr13:39636800-39645600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr13:39637200-39647800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr13:39641600-39645200	Weak transcription	Adipose Nuclei	Adipose
19	chr13:39641600-39645400	Weak transcription	Monocytes-CD14+_RO01746	blood

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