Variant report

Variant	rs7203467
Chromosome Location	chr16:77248114-77248115
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:75678870..75681636-chr16:77246511..77249219,2	MCF-7	breast:
2	chr16:77240069..77243050-chr16:77247110..77249798,2	MCF-7	breast:
3	chr16:77246630..77248536-chr16:77252040..77254720,2	K562	blood:
4	chr16:77223923..77226639-chr16:77244818..77248823,8	K562	blood:
5	chr16:77247036..77249452-chr16:77252040..77253583,2	K562	blood:

Variant related genes	Relation type
ENSG00000065427	Chromatin interaction
ENSG00000226348	Chromatin interaction
ENSG00000103111	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1019565	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11149971	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11544783	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11860898	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11863718	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12931673	0.90[ASN][1000 genomes]
rs13329731	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13329816	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13330279	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13330367	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13332812	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13336198	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13337994	0.90[ASN][1000 genomes]
rs13339324	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1428838	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1428839	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2017197	1.00[ASN][1000 genomes]
rs28539358	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs61746433	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6564417	0.90[ASN][1000 genomes]
rs7184776	0.91[ASN][1000 genomes]
rs7188241	0.90[ASN][1000 genomes]
rs719053	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7198006	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs7198588	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs7201284	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs73627401	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73633620	0.90[ASN][1000 genomes]
rs73633624	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73633633	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73633644	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73633647	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73633654	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73633661	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7501191	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs8048478	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9924958	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9925431	0.89[AMR][1000 genomes]
rs9929722	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9931082	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9931400	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9935921	0.90[ASN][1000 genomes]
rs9936182	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9937408	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9937693	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9938871	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065343	chr16:76927295-77279747	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv542965	chr16:76927295-77279747	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:77247000-77248200	Enhancers	Fetal Heart	heart
2	chr16:77247000-77248400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:77247000-77248400	Enhancers	Left Ventricle	heart
4	chr16:77247000-77248600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:77247000-77248600	Bivalent Enhancer	NHDF-Ad	bronchial
6	chr16:77247000-77248800	Enhancers	Spleen	Spleen
7	chr16:77247200-77248400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr16:77247200-77248400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr16:77247200-77248400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr16:77247200-77248400	Enhancers	Brain Anterior Caudate	brain
11	chr16:77247200-77248400	Enhancers	Right Atrium	heart
12	chr16:77247200-77248400	Enhancers	Hela-S3	cervix
13	chr16:77247200-77248600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr16:77247200-77248600	Enhancers	NHLF	lung
15	chr16:77247200-77250200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr16:77247200-77253600	Weak transcription	Fetal Lung	lung
17	chr16:77247400-77248400	Enhancers	Brain Angular Gyrus	brain
18	chr16:77247400-77248400	Enhancers	Brain Germinal Matrix	brain
19	chr16:77247400-77248600	Enhancers	H1 Cell Line	embryonic stem cell
20	chr16:77247400-77248800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr16:77247400-77248800	Enhancers	HUVEC	blood vessel
22	chr16:77247400-77254600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr16:77247600-77248200	Enhancers	Brain Substantia Nigra	brain
24	chr16:77247600-77248400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr16:77247600-77248400	Enhancers	Brain Hippocampus Middle	brain
26	chr16:77247600-77248400	Enhancers	Osteobl	bone
27	chr16:77247600-77248600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr16:77247600-77248800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr16:77247600-77248800	Enhancers	Fetal Muscle Trunk	muscle
30	chr16:77247600-77251000	Weak transcription	Fetal Stomach	stomach
31	chr16:77247600-77254400	Weak transcription	Ovary	ovary
32	chr16:77247600-77257000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr16:77247800-77248200	Enhancers	A549	lung
34	chr16:77247800-77248400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr16:77247800-77248400	Enhancers	Brain Cingulate Gyrus	brain
36	chr16:77247800-77248400	Enhancers	Right Ventricle	heart
37	chr16:77247800-77248400	Enhancers	HSMM	muscle
38	chr16:77247800-77248400	Enhancers	NHEK	skin
39	chr16:77247800-77248600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr16:77247800-77248600	Weak transcription	Fetal Muscle Leg	muscle
41	chr16:77247800-77248600	Enhancers	NH-A	brain
42	chr16:77247800-77248800	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr16:77247800-77248800	Enhancers	HMEC	breast
44	chr16:77247800-77250800	Weak transcription	HSMMtube	muscle
45	chr16:77247800-77253600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr16:77247800-77257400	Weak transcription	Esophagus	oesophagus
47	chr16:77247800-77261600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr16:77248000-77248400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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