Variant report

Variant	rs11643211
Chromosome Location	chr16:77401545-77401546
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:77396978..77399255-chr16:77401512..77403029,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs12446599	0.89[ASN][1000 genomes]
rs12447385	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13332200	0.94[CHB][hapmap];0.88[JPT][hapmap];0.86[YRI][hapmap];0.87[ASN][1000 genomes]
rs13332995	0.89[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs13336195	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs13338248	0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13338254	0.95[CHB][hapmap];0.93[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.86[YRI][hapmap];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1366540	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1549666	0.91[CHB][hapmap];0.98[CHD][hapmap];0.86[JPT][hapmap];0.96[MEX][hapmap];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16945565	0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.86[ASN][1000 genomes]
rs2115418	0.91[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.96[MEX][hapmap];0.91[ASN][1000 genomes]
rs2343051	0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2880521	0.95[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4038550	0.95[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4287578	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4462608	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs55792912	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs56215552	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs6564433	0.91[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6564439	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7184724	0.90[ASW][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.87[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7190480	0.94[CHB][hapmap];0.90[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7191534	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7196949	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7197341	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7205945	0.90[ASW][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs8044321	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs8044972	0.86[CHB][hapmap];0.98[CHD][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap];0.89[ASN][1000 genomes]
rs8047650	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs8050785	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs8053285	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs8053757	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs8058333	0.91[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.87[MEX][hapmap];0.91[ASN][1000 genomes]
rs8058955	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs9933962	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9936164	0.94[CHB][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs9940670	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9941345	0.91[CHB][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap];0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055234	chr16:77003426-77467286	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv1065048	chr16:77003426-77675163	Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	esv2830376	chr16:77014551-77658185	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	nsv1065149	chr16:77032082-77671890	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv1062349	chr16:77039764-77458731	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv542967	chr16:77039764-77458731	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv1056676	chr16:77139682-77854848	Strong transcription Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
8	nsv1066258	chr16:77229953-77521919	Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv542968	chr16:77229953-77521919	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	esv2761916	chr16:77277005-77555833	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1059194	chr16:77281068-77745928	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	nsv542969	chr16:77281068-77745928	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	esv2751613	chr16:77373039-77444872	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11643211	ADAMTS18	cis	parietal	SCAN
rs11643211	LCN9	trans	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:77394200-77401600	Weak transcription	Ovary	ovary
2	chr16:77398000-77402000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr16:77400000-77408400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr16:77401400-77401600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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