Variant report

Variant	rs721631
Chromosome Location	chr16:82970610-82970611
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10871438	0.87[AMR][1000 genomes]
rs10871439	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10871440	0.95[CEU][hapmap];0.81[CHB][hapmap];0.82[JPT][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10871441	0.95[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11150527	0.82[JPT][hapmap]
rs11860770	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11863181	0.95[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11864595	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.89[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11865978	0.95[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11866755	0.95[CEU][hapmap]
rs12324975	0.82[JPT][hapmap]
rs13332255	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.83[MKK][hapmap];0.94[TSI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1862677	0.95[CEU][hapmap];0.81[EUR][1000 genomes]
rs1862678	0.81[EUR][1000 genomes]
rs1862679	0.95[CEU][hapmap]
rs1862680	0.95[CEU][hapmap];0.81[EUR][1000 genomes]
rs1991022	0.95[CEU][hapmap];0.81[EUR][1000 genomes]
rs1991023	0.95[CEU][hapmap];0.80[CHD][hapmap];0.86[MKK][hapmap];0.81[EUR][1000 genomes]
rs2216737	0.95[CEU][hapmap]
rs34694300	0.93[ASN][1000 genomes]
rs56201418	0.94[ASN][1000 genomes]
rs6565085	0.82[AMR][1000 genomes]
rs6565088	0.95[CEU][hapmap]
rs6565089	0.95[CEU][hapmap]
rs7185364	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7189754	1.00[CEU][hapmap];0.84[CHD][hapmap];0.89[GIH][hapmap];0.81[MKK][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes]
rs7190176	0.95[CEU][hapmap];0.84[CHD][hapmap];0.84[GIH][hapmap];0.85[MKK][hapmap]
rs7191112	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7200922	0.87[EUR][1000 genomes]
rs7201133	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs721630	0.87[ASN][1000 genomes]
rs72790147	0.82[ASN][1000 genomes]
rs918655	0.81[CHB][hapmap];0.87[CHD][hapmap];0.81[GIH][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs918656	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[MKK][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes]
rs9319581	1.00[CEU][hapmap]
rs9926368	0.95[CEU][hapmap];0.82[JPT][hapmap]
rs9928761	0.94[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv573367	chr16:82140561-83040846	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
2	nsv1057341	chr16:82363800-83198907	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv542997	chr16:82363800-83198907	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1063617	chr16:82786803-83229529	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv907028	chr16:82940611-82974628	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv907029	chr16:82951179-83044665	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv907030	chr16:82959437-83044665	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1055454	chr16:82964787-82984576	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs721631	OSGIN1	cis	cerebellum	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82934000-83003400	Weak transcription	NHEK	skin
2	chr16:82934600-82989600	Weak transcription	HSMMtube	muscle
3	chr16:82959200-82977400	Weak transcription	Left Ventricle	heart
4	chr16:82959200-82977600	Weak transcription	Right Atrium	heart
5	chr16:82959400-82977400	Weak transcription	Right Ventricle	heart
6	chr16:82967400-82972400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr16:82968000-82971000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr16:82968800-82971200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr16:82969000-82972000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr16:82969600-82972000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr16:82969600-82972800	Enhancers	HUVEC	blood vessel
12	chr16:82970200-82970800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr16:82970200-82970800	Enhancers	HSMM	muscle
14	chr16:82970200-82971200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr16:82970200-82971200	Enhancers	Fetal Muscle Leg	muscle
16	chr16:82970200-82971400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr16:82970200-82972600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr16:82970200-82972600	Enhancers	HMEC	breast
19	chr16:82970400-82970800	Enhancers	NHLF	lung
20	chr16:82970400-82971000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr16:82970400-82971200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr16:82970400-82971200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr16:82970400-82971200	Enhancers	Lung	lung
24	chr16:82970400-82971200	Enhancers	Osteobl	bone
25	chr16:82970400-82971400	Enhancers	Muscle Satellite Cultured Cells	--
26	chr16:82970600-82970800	Enhancers	Brain Germinal Matrix	brain
27	chr16:82970600-82971200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr16:82970600-82971200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr16:82970600-82971200	Flanking Active TSS	NH-A	brain
30	chr16:82970600-82978200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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