Variant report

Variant	rs73596428
Chromosome Location	chr16:81578554-81578555
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81481928..81485099-chr16:81576354..81580756,4	K562	blood:
2	chr16:81576754..81578558-chr17:59489114..59491385,2	MCF-7	breast:
3	chr16:81576839..81579779-chr16:81583456..81585257,2	K562	blood:
4	chr16:81547505..81549676-chr16:81576353..81579232,2	MCF-7	breast:
5	chr16:81571814..81573956-chr16:81577277..81579755,3	K562	blood:
6	chr16:81576372..81580731-chr16:81581610..81586279,4	MCF-7	breast:
7	chr16:81478553..81481266-chr16:81577586..81580261,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153815	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

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]
rs16955449	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	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73594494	1.00[AMR][1000 genomes]
rs73594496	1.00[AMR][1000 genomes]
rs73596412	0.88[AFR][1000 genomes];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]
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:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81556000-81590000	Weak transcription	Dnd41	blood
2	chr16:81560600-81584800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr16:81565200-81588200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr16:81566600-81584600	Weak transcription	Fetal Brain Female	brain
5	chr16:81568000-81582000	Genic enhancers	A549	lung
6	chr16:81570800-81594200	Weak transcription	Hela-S3	cervix
7	chr16:81573200-81580200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr16:81573400-81579800	Weak transcription	Brain Germinal Matrix	brain
9	chr16:81573600-81578600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr16:81573600-81594800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr16:81573800-81579000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr16:81573800-81586400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr16:81574800-81579200	Enhancers	Fetal Lung	lung
14	chr16:81575000-81578600	Enhancers	HUVEC	blood vessel
15	chr16:81575000-81579000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr16:81575000-81579000	Enhancers	Fetal Intestine Large	intestine
17	chr16:81575000-81579200	Genic enhancers	Fetal Intestine Small	intestine
18	chr16:81575000-81587600	Enhancers	Lung	lung
19	chr16:81575200-81578800	Enhancers	Stomach Mucosa	stomach
20	chr16:81575600-81579000	Enhancers	Ovary	ovary
21	chr16:81575600-81579200	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr16:81575800-81578800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr16:81576000-81578600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr16:81576000-81578800	Genic enhancers	Fetal Stomach	stomach
25	chr16:81576000-81578800	Enhancers	NHLF	lung
26	chr16:81576000-81579000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr16:81576000-81579000	Enhancers	Placenta	Placenta
28	chr16:81576000-81579200	Enhancers	NHDF-Ad	bronchial
29	chr16:81576000-81579200	Enhancers	Osteobl	bone
30	chr16:81576000-81579400	Enhancers	Spleen	Spleen
31	chr16:81576000-81579600	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr16:81576000-81580000	Enhancers	Liver	Liver
33	chr16:81576200-81579600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr16:81576200-81580000	Enhancers	Esophagus	oesophagus
35	chr16:81576400-81579000	Enhancers	Colonic Mucosa	Colon
36	chr16:81576400-81579000	Enhancers	Right Atrium	heart
37	chr16:81576400-81580200	Enhancers	Primary T cells fromperipheralblood	blood
38	chr16:81576400-81583000	Enhancers	Primary hematopoietic stem cells	blood
39	chr16:81576600-81578800	Enhancers	Right Ventricle	heart
40	chr16:81576600-81578800	Enhancers	Small Intestine	intestine
41	chr16:81576600-81579000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr16:81576600-81579000	Enhancers	Primary B cells from peripheral blood	blood
43	chr16:81576600-81579000	Enhancers	Gastric	stomach
44	chr16:81576600-81579200	Enhancers	Adipose Nuclei	Adipose
45	chr16:81576600-81579200	Enhancers	Duodenum Mucosa	Duodenum
46	chr16:81576600-81580000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr16:81576600-81580000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr16:81576800-81578600	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr16:81576800-81579200	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr16:81576800-81579400	Enhancers	Brain Substantia Nigra	brain

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