Variant report

Variant	rs73594496
Chromosome Location	chr16:81562432-81562433
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81556103..81559286-chr16:81561998..81564976,3	K562	blood:
2	chr16:81560059..81563945-chr16:81564065..81567469,4	MCF-7	breast:
3	chr16:81436937..81437730-chr16:81561587..81562550,2	K562	blood:
4	chr16:81541404..81543131-chr16:81562418..81564438,2	MCF-7	breast:
5	chr16:81478269..81480655-chr16:81559515..81562675,4	MCF-7	breast:
6	chr16:81560475..81564171-chr16:81564775..81571060,7	K562	blood:

Variant related genes	Relation type
ENSG00000153815	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs13330047	1.00[AMR][1000 genomes]
rs13330236	1.00[AMR][1000 genomes]
rs13330460	1.00[AMR][1000 genomes]
rs13333096	1.00[AMR][1000 genomes]
rs13335545	1.00[AMR][1000 genomes]
rs13336715	1.00[AMR][1000 genomes]
rs13338579	1.00[AMR][1000 genomes]
rs16955449	1.00[AMR][1000 genomes]
rs28418533	1.00[AMR][1000 genomes]
rs28436066	1.00[AMR][1000 genomes]
rs28493867	1.00[AMR][1000 genomes]
rs28572501	1.00[AMR][1000 genomes]
rs28594283	1.00[AMR][1000 genomes]
rs28669745	1.00[AMR][1000 genomes]
rs2927303	1.00[AMR][1000 genomes]
rs2927306	1.00[AMR][1000 genomes]
rs2927309	1.00[AMR][1000 genomes]
rs2927310	1.00[AMR][1000 genomes]
rs2966089	1.00[AMR][1000 genomes]
rs2966096	1.00[AMR][1000 genomes]
rs56850891	1.00[AMR][1000 genomes]
rs73594494	1.00[AMR][1000 genomes]
rs73596412	1.00[AMR][1000 genomes]
rs73596428	1.00[AMR][1000 genomes]
rs73596440	1.00[AMR][1000 genomes]
rs73596462	1.00[AMR][1000 genomes]
rs9921409	1.00[AMR][1000 genomes]
rs9923475	1.00[AMR][1000 genomes]
rs9925710	1.00[AMR][1000 genomes]
rs9927474	1.00[AMR][1000 genomes]
rs9928818	1.00[AMR][1000 genomes]
rs9929135	1.00[AMR][1000 genomes]
rs9933163	1.00[AMR][1000 genomes]
rs9934846	1.00[AMR][1000 genomes]
rs9934867	1.00[AMR][1000 genomes]
rs9935348	1.00[AMR][1000 genomes]
rs9935375	1.00[AMR][1000 genomes]
rs9935617	1.00[AMR][1000 genomes]
rs9935646	1.00[AMR][1000 genomes]
rs9936412	1.00[AMR][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	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1057791	chr16:81515036-81644651	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv542993	chr16:81515036-81644651	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
6	nsv457576	chr16:81525637-81579433	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
7	nsv573360	chr16:81525637-81579433	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1062659	chr16:81547280-81668786	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81547400-81571600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr16:81547600-81564400	Weak transcription	Fetal Kidney	kidney
3	chr16:81547800-81571600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr16:81548000-81564200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr16:81548000-81564200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr16:81548800-81567400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:81551400-81563800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr16:81552200-81564600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr16:81552800-81563400	Enhancers	Primary T cells fromperipheralblood	blood
10	chr16:81553600-81565400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr16:81553800-81566200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr16:81555400-81563200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr16:81555400-81576800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr16:81555800-81572200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr16:81556000-81590000	Weak transcription	Dnd41	blood
16	chr16:81556200-81568000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr16:81556200-81577600	Weak transcription	GM12878-XiMat	blood
18	chr16:81556600-81563800	Enhancers	HMEC	breast
19	chr16:81556800-81571400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr16:81557400-81565200	Weak transcription	Primary T cells from cord blood	blood
21	chr16:81557800-81564200	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr16:81558000-81565600	Weak transcription	Thymus	Thymus
23	chr16:81558200-81563800	Enhancers	Esophagus	oesophagus
24	chr16:81558200-81564400	Weak transcription	Brain Angular Gyrus	brain
25	chr16:81558400-81562800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr16:81558400-81562800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr16:81559800-81562600	Enhancers	Stomach Mucosa	stomach
28	chr16:81560200-81567800	Enhancers	Placenta	Placenta
29	chr16:81560400-81563000	Weak transcription	Fetal Thymus	thymus
30	chr16:81560400-81566800	Weak transcription	NHLF	lung
31	chr16:81560600-81584800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr16:81560800-81566200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr16:81560800-81566400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr16:81560800-81571600	Weak transcription	Fetal Brain Male	brain
35	chr16:81560800-81571600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr16:81560800-81572200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr16:81561000-81562800	Weak transcription	Lung	lung
38	chr16:81561000-81563400	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr16:81561000-81563800	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr16:81561000-81564200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr16:81561000-81564200	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr16:81561000-81564200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr16:81561000-81564600	Weak transcription	Brain Anterior Caudate	brain
44	chr16:81561000-81564600	Weak transcription	Left Ventricle	heart
45	chr16:81561000-81564600	Weak transcription	Spleen	Spleen
46	chr16:81561000-81565000	Weak transcription	Pancreas	Pancrea
47	chr16:81561000-81565600	Weak transcription	Colonic Mucosa	Colon
48	chr16:81561000-81566400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr16:81561000-81567400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr16:81561000-81567400	Weak transcription	Gastric	stomach

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