Variant report

Variant	rs10492870
Chromosome Location	chr16:83020354-83020355
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10492869	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10492871	0.85[CHD][hapmap];0.92[JPT][hapmap]
rs11860936	0.92[CEU][hapmap]
rs12598295	0.81[CEU][hapmap]
rs16958963	0.93[CEU][hapmap];0.89[TSI][hapmap];0.87[EUR][1000 genomes]
rs16959013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17682957	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs17744685	0.93[CEU][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17744703	0.93[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17744760	0.93[CEU][hapmap];0.82[CHB][hapmap];0.84[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17744784	1.00[ASW][hapmap];0.93[CEU][hapmap];0.82[CHB][hapmap];0.80[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.96[TSI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4782739	0.93[CEU][hapmap];0.82[CHB][hapmap];0.84[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4782740	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4782741	0.93[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4783302	0.92[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4783303	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4783304	0.82[CHD][hapmap]
rs59129184	1.00[ASN][1000 genomes]
rs59583540	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60675007	0.99[ASN][1000 genomes]
rs61417277	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61502045	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7193416	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7198797	1.00[CHB][hapmap];0.96[CHD][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];0.81[MKK][hapmap];0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7200520	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs72790179	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72790181	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72790183	0.87[EUR][1000 genomes]
rs72790184	0.86[EUR][1000 genomes]
rs72790185	0.87[EUR][1000 genomes]
rs72790186	0.82[EUR][1000 genomes]
rs72790187	0.81[EUR][1000 genomes]
rs72790189	0.83[EUR][1000 genomes]
rs72790196	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72790197	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72790199	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72790200	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72790201	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72792103	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72792104	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72792105	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72792114	1.00[ASN][1000 genomes]
rs72792116	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72792119	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72792123	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72792124	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72792125	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72792127	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72792128	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72792129	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72792132	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72792133	0.86[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs72792157	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72794136	0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs72794175	0.87[EUR][1000 genomes]
rs72794176	0.88[EUR][1000 genomes]
rs8061888	0.85[CHD][hapmap];0.92[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv1056005	chr16:82987872-83055420	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1055246	chr16:82988025-83056132	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1064172	chr16:82988932-83046695	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv522570	chr16:82988977-83044665	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv573383	chr16:82988977-83044665	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv573384	chr16:82994130-83044665	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82970800-83021000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr16:82989800-83029600	Weak transcription	HMEC	breast
3	chr16:82995000-83027400	Weak transcription	HSMMtube	muscle
4	chr16:83003800-83021400	Weak transcription	NHEK	skin
5	chr16:83005800-83021200	Weak transcription	Psoas Muscle	Psoas
6	chr16:83009000-83029400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr16:83013800-83021400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr16:83014000-83021400	Weak transcription	Aorta	Aorta
9	chr16:83014800-83030400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr16:83015200-83023200	Weak transcription	HUVEC	blood vessel
11	chr16:83017000-83023200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr16:83017200-83021400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr16:83017800-83028800	Weak transcription	Left Ventricle	heart
14	chr16:83018400-83021200	Strong transcription	HSMM	muscle
15	chr16:83018400-83021400	Weak transcription	Fetal Muscle Leg	muscle
16	chr16:83019600-83029600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr16:83019800-83021000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr16:83019800-83021400	Weak transcription	NHDF-Ad	bronchial

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