Variant report

Variant	rs2113138
Chromosome Location	chr16:82872889-82872890
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10781995	0.90[JPT][hapmap]
rs11150496	0.91[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs11150498	0.93[ASN][1000 genomes]
rs11150500	0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11150502	1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11150507	0.83[ASN][1000 genomes]
rs11150515	0.92[YRI][hapmap]
rs11150517	0.83[YRI][hapmap]
rs11641036	0.93[ASN][1000 genomes]
rs12149890	0.93[ASN][1000 genomes]
rs12918477	0.91[ASN][1000 genomes]
rs12920406	0.83[YRI][hapmap]
rs12929586	0.93[ASN][1000 genomes]
rs1381500	0.93[ASN][1000 genomes]
rs1462051	0.89[ASN][1000 genomes]
rs1559312	0.89[YRI][hapmap]
rs1585533	0.93[ASN][1000 genomes]
rs1903618	0.93[ASN][1000 genomes]
rs192598	0.91[CEU][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs192599	0.91[CEU][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1947715	0.91[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs1991024	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1991025	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2059230	0.88[JPT][hapmap];0.83[YRI][hapmap]
rs2061629	0.89[JPT][hapmap]
rs2113137	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2113139	0.83[ASN][1000 genomes]
rs2113140	1.00[JPT][hapmap]
rs2194283	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2194285	0.86[CEU][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2216739	0.83[YRI][hapmap]
rs2325690	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2549141	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2615127	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2615128	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2615133	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs286666	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs286667	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs286668	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs286674	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs286676	0.91[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs286678	0.91[CEU][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs286680	0.82[CEU][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs286682	0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs286684	0.93[AMR][1000 genomes]
rs286685	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs286687	0.82[CEU][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs34211526	0.81[ASN][1000 genomes]
rs3911751	0.93[ASN][1000 genomes]
rs4485358	0.83[YRI][hapmap]
rs4513093	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4782734	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4782736	0.86[AMR][1000 genomes]
rs4783290	0.95[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4783291	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7184056	1.00[JPT][hapmap];0.83[YRI][hapmap];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7198913	1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7201088	1.00[JPT][hapmap];0.83[YRI][hapmap];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7201829	0.83[YRI][hapmap]
rs7498269	0.81[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs8051136	1.00[JPT][hapmap];0.83[YRI][hapmap];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs8052008	1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs8052174	0.92[YRI][hapmap]
rs8053647	1.00[JPT][hapmap];0.83[YRI][hapmap];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs918659	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs918660	0.83[YRI][hapmap]
rs918661	0.83[YRI][hapmap]
rs929846	0.89[JPT][hapmap];0.80[YRI][hapmap]
rs929847	0.89[JPT][hapmap];0.85[YRI][hapmap]
rs929848	0.88[JPT][hapmap];0.83[YRI][hapmap]
rs9319576	1.00[JPT][hapmap];0.84[YRI][hapmap];0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9319577	1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9921828	1.00[JPT][hapmap];0.83[YRI][hapmap];0.85[ASN][1000 genomes]
rs9921848	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9931196	0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs9933586	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs9933935	1.00[JPT][hapmap];0.83[YRI][hapmap];0.81[ASN][1000 genomes]
rs9935163	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	nsv532599	chr16:82074439-82926863	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	nsv573379	chr16:82713551-82887631	Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
6	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
7	esv2830385	chr16:82841335-82950413	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv827777	chr16:82872227-82872944	Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82833000-82873600	Weak transcription	HMEC	breast
2	chr16:82848200-82898200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr16:82856800-82876200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr16:82863200-82892800	Weak transcription	HSMMtube	muscle
5	chr16:82866800-82878600	Weak transcription	Aorta	Aorta
6	chr16:82867400-82874600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr16:82868200-82878200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr16:82868400-82874600	Weak transcription	Left Ventricle	heart
9	chr16:82868400-82876000	Weak transcription	HSMM	muscle
10	chr16:82868400-82878800	Weak transcription	Right Atrium	heart
11	chr16:82869400-82878800	Weak transcription	Right Ventricle	heart
12	chr16:82869600-82880000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr16:82872000-82874600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr16:82872600-82874600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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