Variant report

Variant	rs10817718
Chromosome Location	chr9:117925945-117925946
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1000109	1.00[CEU][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1000110	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1000111	0.95[CEU][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10759756	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10759757	1.00[CEU][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10817714	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10817715	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10817716	1.00[CEU][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10982550	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10982557	0.82[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10982572	0.82[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10982576	0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10982598	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1111784	1.00[CEU][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11788578	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11792657	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11793679	1.00[CEU][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11794627	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12376564	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12376870	0.87[ASN][1000 genomes]
rs12378459	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12379019	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12380363	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12554357	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12554651	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1335350	0.88[CHB][hapmap]
rs1360290	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1411458	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1414146	0.88[CHB][hapmap]
rs16936516	1.00[CEU][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2001693	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2012566	1.00[CEU][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2012775	1.00[CEU][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2900594	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3748166	0.82[CEU][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4448357	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4587405	0.90[ASN][1000 genomes]
rs4978620	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4978627	0.85[TSI][hapmap]
rs4979499	0.82[CEU][hapmap]
rs4979500	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs4979501	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4979503	0.95[CEU][hapmap]
rs4979506	0.82[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57814325	0.87[ASN][1000 genomes]
rs58134557	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58160054	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61508829	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62580502	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6478132	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7018653	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7021057	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7024048	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7025283	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7029482	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7029844	0.93[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7035705	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7039636	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7039915	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7040243	0.88[CHB][hapmap]
rs7040521	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7849460	1.00[CEU][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7849467	1.00[CEU][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7850000	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7850007	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7851185	0.88[CHB][hapmap];0.82[GIH][hapmap];0.85[TSI][hapmap];0.88[YRI][hapmap]
rs7858535	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7865971	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7866695	0.85[TSI][hapmap]
rs884790	0.87[AMR][1000 genomes];0.95[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	nsv615250	chr9:117768021-118012841	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv916912	chr9:117770039-118014140	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv831697	chr9:117860416-118023927	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv6681	chr9:117893926-117938609	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117920600-117926400	Weak transcription	NHEK	skin
2	chr9:117921400-117926600	Weak transcription	HSMMtube	muscle
3	chr9:117921600-117926400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr9:117921600-117926600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr9:117921600-117926800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr9:117921800-117926800	Weak transcription	Fetal Muscle Leg	muscle
7	chr9:117922000-117944600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr9:117923400-117927600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr9:117924000-117926400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr9:117924200-117926600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr9:117924600-117926800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr9:117925400-117927400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr9:117925400-117928000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr9:117925600-117926000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr9:117925600-117926600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr9:117925600-117927800	Enhancers	HSMM	muscle
17	chr9:117925800-117926000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr9:117925800-117926000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr9:117925800-117926000	Enhancers	Rectal Smooth Muscle	rectum
20	chr9:117925800-117927400	Enhancers	Placenta Amnion	Placenta Amnion
21	chr9:117925800-117927400	Enhancers	Dnd41	blood
22	chr9:117925800-117927600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr9:117925800-117927600	Enhancers	NHLF	lung
24	chr9:117925800-117927800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr9:117925800-117928000	Enhancers	Brain Germinal Matrix	brain
26	chr9:117925800-117928200	Enhancers	NHDF-Ad	bronchial

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