Variant report

Variant	rs73513935
Chromosome Location	chr16:12486383-12486384
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:12480350..12482159-chr16:12485408..12486962,2	MCF-7	breast:
2	chr16:12485157..12486773-chr16:12498470..12500396,2	K562	blood:
3	chr16:12479812..12482629-chr16:12484351..12486474,2	K562	blood:
4	chr16:12485456..12487109-chr16:12487672..12489526,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11640793	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11641000	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11642448	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11645049	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11645083	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12448282	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17220724	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17819735	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17819932	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35026468	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55918425	1.00[ASN][1000 genomes]
rs61098049	1.00[ASN][1000 genomes]
rs6498290	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7186272	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7186641	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7199116	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7203335	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8048377	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8055030	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8055044	0.93[AMR][1000 genomes];0.95[EUR][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	nsv1043096	chr16:12013915-12840769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv833141	chr16:12314613-12487992	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv457411	chr16:12363304-12520199	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv571462	chr16:12363304-12520199	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv571463	chr16:12367791-12783535	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv1045385	chr16:12376389-12517006	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv542748	chr16:12376389-12517006	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1736	chr16:12477807-12522707	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv1046002	chr16:12482003-12510643	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv1051242	chr16:12482972-12897243	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
11	nsv542749	chr16:12482972-12897243	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12444800-12491400	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr16:12457000-12492400	Weak transcription	Lung	lung
3	chr16:12457400-12497400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr16:12457600-12491600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr16:12457600-12497400	Weak transcription	Spleen	Spleen
6	chr16:12461200-12490200	Weak transcription	GM12878-XiMat	blood
7	chr16:12470200-12497400	Weak transcription	Left Ventricle	heart
8	chr16:12471200-12494200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr16:12471800-12493400	Weak transcription	Aorta	Aorta
10	chr16:12471800-12495800	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr16:12471800-12499000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr16:12473800-12493800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr16:12476000-12531600	Weak transcription	Right Ventricle	heart
14	chr16:12478600-12497400	Weak transcription	Pancreas	Pancrea
15	chr16:12479200-12486600	Strong transcription	Primary B cells from peripheral blood	blood
16	chr16:12480200-12491800	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr16:12480200-12493600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr16:12480600-12486400	Weak transcription	HSMM	muscle
19	chr16:12480800-12487200	Weak transcription	Brain Angular Gyrus	brain
20	chr16:12480800-12491600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr16:12480800-12497400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr16:12481800-12496800	Weak transcription	Esophagus	oesophagus
23	chr16:12482000-12486400	Weak transcription	Primary T cells from cord blood	blood
24	chr16:12482000-12486600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr16:12482400-12510400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr16:12483400-12486400	Enhancers	Ovary	ovary
27	chr16:12484000-12487600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr16:12484400-12487000	Weak transcription	Fetal Brain Male	brain
29	chr16:12484400-12487600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr16:12484600-12493200	Weak transcription	Fetal Stomach	stomach
31	chr16:12484600-12497200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr16:12485000-12493600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr16:12485000-12493600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr16:12485000-12497000	Weak transcription	NHLF	lung
35	chr16:12485000-12497400	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr16:12485000-12501000	Weak transcription	NHEK	skin
37	chr16:12485200-12489200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr16:12485200-12491600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr16:12485200-12492400	Weak transcription	Osteobl	bone
40	chr16:12485400-12487200	Enhancers	Brain Hippocampus Middle	brain
41	chr16:12485400-12494400	Strong transcription	Primary B cells from cord blood	blood
42	chr16:12485800-12486800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr16:12485800-12486800	Enhancers	Muscle Satellite Cultured Cells	--
44	chr16:12485800-12487200	Enhancers	Colon Smooth Muscle	Colon
45	chr16:12485800-12491400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr16:12485800-12492200	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr16:12486000-12486600	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr16:12486000-12486800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr16:12486000-12487000	Enhancers	Brain Cingulate Gyrus	brain
50	chr16:12486000-12487400	Enhancers	Brain Substantia Nigra	brain

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