Variant report

Variant	rs57483280
Chromosome Location	chr16:75625385-75625386
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:75623127..75625828-chr16:75626144..75628111,2	MCF-7	breast:
2	chr16:75624488..75626480-chr16:75634875..75636838,2	MCF-7	breast:
3	chr16:75618240..75621065-chr16:75621987..75626316,7	K562	blood:

Variant related genes	Relation type
ENSG00000065457	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs55754264	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs56029288	0.85[AFR][1000 genomes]
rs57709930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59444431	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59487462	0.85[AFR][1000 genomes]
rs60074376	0.87[AMR][1000 genomes]
rs60530589	0.89[AMR][1000 genomes]
rs7200517	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs723694	0.89[AMR][1000 genomes]
rs73612886	0.89[AMR][1000 genomes]
rs73615008	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73615016	0.85[AFR][1000 genomes]
rs73615046	0.88[AFR][1000 genomes]
rs73615053	0.80[AFR][1000 genomes]
rs73615054	0.88[AFR][1000 genomes]
rs73615059	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs74027415	0.89[AMR][1000 genomes]
rs8047796	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8051251	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8052388	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9745472	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv1065995	chr16:75373756-75626027	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv525955	chr16:75473332-75628345	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
5	nsv532561	chr16:75519574-75636977	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
6	nsv532562	chr16:75614947-76371158	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75607600-75630800	Weak transcription	Fetal Brain Male	brain
2	chr16:75609000-75627800	Weak transcription	NHEK	skin
3	chr16:75610400-75634000	Weak transcription	Hela-S3	cervix
4	chr16:75610600-75633400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr16:75610600-75635200	Weak transcription	Fetal Kidney	kidney
6	chr16:75611400-75634000	Weak transcription	Colonic Mucosa	Colon
7	chr16:75611800-75628800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr16:75612000-75627400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr16:75612000-75627400	Weak transcription	Psoas Muscle	Psoas
10	chr16:75612000-75631000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr16:75612000-75635600	Weak transcription	Small Intestine	intestine
12	chr16:75612400-75631000	Weak transcription	Gastric	stomach
13	chr16:75612400-75631200	Weak transcription	Esophagus	oesophagus
14	chr16:75613200-75627200	Weak transcription	HepG2	liver
15	chr16:75613200-75627800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr16:75613200-75633400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr16:75613400-75630800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr16:75613400-75635200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr16:75613600-75627400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr16:75613600-75630800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr16:75613600-75631000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr16:75613600-75633000	Weak transcription	Ovary	ovary
23	chr16:75613800-75627400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr16:75613800-75627800	Weak transcription	A549	lung
25	chr16:75613800-75627800	Weak transcription	HUVEC	blood vessel
26	chr16:75613800-75630800	Weak transcription	HMEC	breast
27	chr16:75613800-75632800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr16:75614000-75627600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr16:75614000-75629800	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr16:75614200-75627200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr16:75614200-75627800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr16:75614400-75626000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr16:75614400-75626000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr16:75614400-75626200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr16:75614400-75627400	Weak transcription	Fetal Intestine Large	intestine
36	chr16:75614400-75628400	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr16:75614400-75630600	Weak transcription	Thymus	Thymus
38	chr16:75614400-75630800	Weak transcription	Liver	Liver
39	chr16:75614400-75630800	Weak transcription	Fetal Brain Female	brain
40	chr16:75614400-75631000	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr16:75614400-75631000	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr16:75614600-75627400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr16:75614600-75628400	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr16:75614800-75627200	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr16:75615000-75633400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr16:75615400-75627400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr16:75615400-75631000	Weak transcription	Fetal Thymus	thymus
48	chr16:75618600-75627600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr16:75619000-75630600	Weak transcription	Primary B cells from cord blood	blood
50	chr16:75619600-75627400	Weak transcription	GM12878-XiMat	blood

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