Variant report

Variant	rs1991023
Chromosome Location	chr16:82976141-82976142
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:82974835..82978112-chr16:82980559..82984305,4	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10492865	0.87[CHB][hapmap]
rs10492866	0.87[CHB][hapmap];0.80[CHD][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs10492867	0.81[CHB][hapmap]
rs10871438	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10871439	0.83[EUR][1000 genomes]
rs10871440	1.00[CEU][hapmap];0.81[CHB][hapmap];0.82[EUR][1000 genomes]
rs10871441	1.00[CEU][hapmap];0.81[CHB][hapmap];0.83[JPT][hapmap];0.82[EUR][1000 genomes]
rs11150525	0.82[CEU][hapmap]
rs11860770	0.95[CEU][hapmap]
rs11863181	1.00[CEU][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs11864595	0.95[CEU][hapmap];0.86[GIH][hapmap]
rs11865978	0.95[CEU][hapmap]
rs11866755	1.00[CEU][hapmap];0.87[CHB][hapmap];0.83[GIH][hapmap];0.87[MEX][hapmap];0.94[TSI][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12447446	0.87[CHB][hapmap];0.81[ASN][1000 genomes]
rs13332255	0.95[CEU][hapmap];0.81[GIH][hapmap]
rs16958917	0.81[CHB][hapmap]
rs1862677	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1862678	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1862679	1.00[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1862680	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1991022	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2216737	1.00[CEU][hapmap];0.87[CHB][hapmap];0.82[GIH][hapmap];0.83[JPT][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28726147	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34111356	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34248819	0.97[ASN][1000 genomes]
rs34863170	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34897530	0.81[AMR][1000 genomes]
rs6565085	0.84[EUR][1000 genomes]
rs6565086	0.81[EUR][1000 genomes]
rs6565087	0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs6565088	1.00[CEU][hapmap];0.87[CHB][hapmap];0.80[CHD][hapmap];0.88[GIH][hapmap];0.92[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6565089	1.00[CEU][hapmap];0.87[CHB][hapmap];0.85[GIH][hapmap];0.92[JPT][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6565091	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66956700	0.80[ASN][1000 genomes]
rs7189754	0.95[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];0.92[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.83[TSI][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7190176	0.89[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];0.83[GIH][hapmap];0.92[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.97[TSI][hapmap];0.89[YRI][hapmap]
rs7191791	0.81[CHB][hapmap];0.83[CHD][hapmap];0.80[ASN][1000 genomes]
rs7200922	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7201133	0.95[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs721631	0.95[CEU][hapmap];0.80[CHD][hapmap];0.86[MKK][hapmap];0.81[EUR][1000 genomes]
rs918655	0.81[CHB][hapmap];0.84[CHD][hapmap];0.83[LWK][hapmap];0.89[MKK][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes]
rs918656	0.95[CEU][hapmap];0.83[CHB][hapmap];0.92[CHD][hapmap];0.85[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.83[TSI][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9319581	0.95[CEU][hapmap];0.87[CHB][hapmap];0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs9926368	0.90[CEU][hapmap]

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	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	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
6	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
7	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
rs1991023	OSGIN1	cis	cerebellum	SCAN

Chromatin state (count:21 , 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	chr16:82970600-82978200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr16:82970800-83021000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr16:82971200-82977400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr16:82971400-82979000	Weak transcription	NH-A	brain
10	chr16:82971400-82979400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr16:82971400-83009000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr16:82972600-82976400	Weak transcription	HMEC	breast
13	chr16:82972800-82977200	Weak transcription	HUVEC	blood vessel
14	chr16:82972800-82977400	Weak transcription	Psoas Muscle	Psoas
15	chr16:82972800-82994600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr16:82974400-82976200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr16:82974400-82980600	Weak transcription	HSMM	muscle
18	chr16:82974600-82976800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr16:82975000-82977200	Enhancers	Brain Germinal Matrix	brain
20	chr16:82975200-82977200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr16:82976000-82976200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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