Variant report

Variant	rs4448276
Chromosome Location	chr8:10054928-10054929
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10085917	0.89[CEU][hapmap]
rs10093457	0.82[EUR][1000 genomes]
rs10097315	0.89[CHD][hapmap];0.83[MEX][hapmap]
rs10104463	0.96[CEU][hapmap];0.83[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10283047	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11249973	0.91[MEX][hapmap];0.85[TSI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11786117	0.81[CEU][hapmap];0.82[MEX][hapmap]
rs11786120	0.87[CEU][hapmap]
rs11993663	0.89[JPT][hapmap]
rs12548428	0.86[MEX][hapmap]
rs1484647	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1484648	0.85[CEU][hapmap];0.85[CHD][hapmap];0.84[MEX][hapmap]
rs17151318	0.84[CEU][hapmap]
rs17748464	0.92[CEU][hapmap];0.86[CHB][hapmap];0.89[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1905630	0.96[CEU][hapmap]
rs1905631	0.96[CEU][hapmap]
rs1905633	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1905634	0.85[CEU][hapmap];0.82[CHD][hapmap];0.83[MEX][hapmap]
rs2409623	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28701812	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56883717	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60032918	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62491573	0.84[AMR][1000 genomes]
rs62491574	0.82[AMR][1000 genomes]
rs6601419	0.81[CEU][hapmap];0.82[JPT][hapmap]
rs6601420	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6982806	0.89[CEU][hapmap];0.87[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6997464	0.92[CEU][hapmap];0.83[MEX][hapmap]
rs7006628	0.92[CEU][hapmap];0.91[MEX][hapmap];0.86[TSI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7011004	0.88[CEU][hapmap]
rs7011281	0.89[CEU][hapmap];0.83[MEX][hapmap]
rs7011821	0.89[CEU][hapmap]
rs7812517	0.84[CHD][hapmap]
rs7820236	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs7829478	0.96[CEU][hapmap];0.91[CHB][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7842065	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv610263	chr8:9941021-10090149	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv831230	chr8:9953343-10139350	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1027280	chr8:9958259-10058984	Enhancers Active TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1021921	chr8:9958259-10212555	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv890344	chr8:9995515-10060638	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv831231	chr8:10001214-10189094	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1026335	chr8:10037279-10139782	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4448276	XKR5	cis	parietal	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10050000-10057800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr8:10050000-10068000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:10050400-10055000	Weak transcription	HSMMtube	muscle
4	chr8:10050400-10058000	Weak transcription	Aorta	Aorta
5	chr8:10050600-10055000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:10051600-10058400	Enhancers	Fetal Brain Male	brain
7	chr8:10052200-10056200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr8:10052400-10058000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:10053600-10062400	Weak transcription	Pancreas	Pancrea
10	chr8:10053600-10065000	Weak transcription	Brain Germinal Matrix	brain
11	chr8:10053800-10055000	Weak transcription	Left Ventricle	heart
12	chr8:10053800-10062400	Weak transcription	Liver	Liver
13	chr8:10053800-10087000	Weak transcription	Spleen	Spleen
14	chr8:10054000-10055000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:10054000-10059200	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr8:10054000-10064200	Weak transcription	Brain Angular Gyrus	brain
17	chr8:10054400-10055600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:10054600-10055200	Enhancers	Fetal Brain Female	brain
19	chr8:10054600-10055400	Enhancers	HMEC	breast
20	chr8:10054600-10055400	Enhancers	NHEK	skin
21	chr8:10054600-10056400	Enhancers	Fetal Heart	heart
22	chr8:10054800-10055400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:10054800-10055400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr8:10054800-10057400	Enhancers	Brain Substantia Nigra	brain

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