Variant report

Variant	rs12600298
Chromosome Location	chr16:72555112-72555113
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 131 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs1035983	0.83[AFR][1000 genomes]
rs10400973	0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11075930	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11075931	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11075934	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11075937	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11075938	0.90[ASN][1000 genomes]
rs11075940	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11531326	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12051317	0.94[JPT][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12051376	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12051436	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12445485	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12595984	0.83[AFR][1000 genomes]
rs12596421	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12596520	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12596827	0.83[AFR][1000 genomes]
rs12597916	0.83[AFR][1000 genomes]
rs12598100	0.83[AFR][1000 genomes]
rs12599861	0.83[AFR][1000 genomes]
rs12708932	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12921040	0.83[AFR][1000 genomes]
rs1366846	0.83[AFR][1000 genomes]
rs1366847	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1429433	0.89[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1429434	0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs1437196	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1529527	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1544964	0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs16970845	0.83[AFR][1000 genomes]
rs16970852	0.83[AFR][1000 genomes]
rs16970879	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs16970888	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs16970895	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs16970901	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs16970906	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16970922	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16970969	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16970987	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16970998	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2043022	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2059901	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2107153	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2115625	0.83[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs2115626	0.80[ASN][1000 genomes]
rs2161659	0.83[AFR][1000 genomes]
rs2163067	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2358805	0.83[AFR][1000 genomes]
rs2860232	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs28823672	0.83[AFR][1000 genomes]
rs2884552	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs28876074	0.83[AFR][1000 genomes]
rs2905695	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2905696	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2914768	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2914770	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2914772	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2914773	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2914776	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2914778	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2914781	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs292914	0.83[AFR][1000 genomes]
rs292915	0.83[AFR][1000 genomes]
rs292919	0.83[AFR][1000 genomes]
rs292920	0.83[AFR][1000 genomes]
rs292921	0.83[AFR][1000 genomes]
rs292926	0.83[AFR][1000 genomes]
rs292930	0.83[AFR][1000 genomes]
rs292932	0.83[AFR][1000 genomes]
rs292934	0.83[AFR][1000 genomes]
rs2967238	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2967239	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4278755	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs4788474	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4788627	0.83[AFR][1000 genomes]
rs4788629	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4788631	0.80[AMR][1000 genomes]
rs4788633	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs4788634	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4788635	0.82[ASN][1000 genomes]
rs4788637	0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs58097957	0.83[AFR][1000 genomes]
rs60144415	0.83[AFR][1000 genomes]
rs60962205	0.82[AMR][1000 genomes]
rs6499575	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6499576	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6499578	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs6499579	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs6499581	0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs714101	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs714102	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7187123	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7192128	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7194567	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7199644	0.82[ASN][1000 genomes]
rs7199653	0.82[ASN][1000 genomes]
rs7203205	0.82[ASN][1000 genomes]
rs7206485	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7405242	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs8044614	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs8048815	0.89[ASN][1000 genomes]
rs8051950	0.87[AMR][1000 genomes]
rs8052426	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs8053419	0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs8059268	0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes]
rs873899	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9302640	0.88[CHB][hapmap];0.93[JPT][hapmap];0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs982799	0.83[AFR][1000 genomes]
rs9923006	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs9924937	0.81[ASN][1000 genomes]
rs9927280	1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs9934215	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs9935202	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs9935250	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs9936708	1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs999210	0.89[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1060983	chr16:72074832-72791629	Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv1060804	chr16:72078486-72791629	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv534039	chr16:72287171-72851170	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv1067525	chr16:72342110-72602796	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv542948	chr16:72342110-72602796	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv1055807	chr16:72418417-72614308	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv523524	chr16:72464460-72635674	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv1055142	chr16:72473520-72627783	ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv542950	chr16:72473520-72627783	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv530712	chr16:72499171-72744114	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
12	nsv1064928	chr16:72509626-72627783	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv1065173	chr16:72509626-72693970	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	nsv542951	chr16:72509626-72693970	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	nsv518234	chr16:72544447-72635674	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72530600-72555400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr16:72545000-72556000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr16:72545000-72588800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr16:72545200-72555400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr16:72549200-72556200	Weak transcription	Esophagus	oesophagus
6	chr16:72550400-72555600	Weak transcription	Primary B cells from cord blood	blood
7	chr16:72550600-72555200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr16:72552600-72567400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr16:72554200-72556000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr16:72554400-72556400	Weak transcription	HSMM	muscle
11	chr16:72554600-72555600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr16:72554600-72571400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr16:72554800-72557400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr16:72555000-72555400	Weak transcription	Dnd41	blood
15	chr16:72555000-72555800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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