Variant report

Variant	rs57833761
Chromosome Location	chr16:48349125-48349126
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs35374298	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57503116	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57937994	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60654623	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60747434	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60778835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7192772	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550078	1.00[AMR][1000 genomes]
rs73550084	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550090	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550093	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550096	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550097	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550099	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551446	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551462	1.00[AMR][1000 genomes]
rs73551474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73552007	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73555664	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73562026	1.00[AMR][1000 genomes]
rs73562044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73562047	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73562067	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73562076	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8048632	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8053521	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8056369	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8056984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061316	chr16:48264175-48594219	Weak transcription Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS 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 target site	38 gene(s)	inside rSNPs	diseases
2	esv1821072	chr16:48268318-48504364	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv833219	chr16:48290595-48459301	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1061708	chr16:48304343-48482594	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv542917	chr16:48304343-48482594	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	esv2758424	chr16:48329437-48479754	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	esv2758645	chr16:48329437-48479754	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48325000-48350800	Weak transcription	NHLF	lung
2	chr16:48330400-48354600	Weak transcription	Stomach Mucosa	stomach
3	chr16:48334600-48350800	Weak transcription	NH-A	brain
4	chr16:48334800-48361400	Strong transcription	Liver	Liver
5	chr16:48338000-48351000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr16:48338400-48350800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr16:48338600-48352600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr16:48338600-48352600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr16:48338600-48381200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr16:48339400-48368000	Weak transcription	Colonic Mucosa	Colon
11	chr16:48341400-48350600	Weak transcription	Osteobl	bone
12	chr16:48342200-48368000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr16:48343400-48375600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr16:48344600-48368200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr16:48345000-48351600	Weak transcription	Small Intestine	intestine
16	chr16:48345200-48350600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr16:48345200-48350800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr16:48345200-48350800	Weak transcription	HUVEC	blood vessel
19	chr16:48345200-48351000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr16:48345200-48351000	Weak transcription	HMEC	breast
21	chr16:48345200-48351200	Weak transcription	HSMM	muscle
22	chr16:48345600-48351200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr16:48345800-48351000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr16:48345800-48351400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr16:48345800-48351600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr16:48345800-48352600	Weak transcription	Fetal Heart	heart
27	chr16:48345800-48363200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr16:48346000-48352400	Weak transcription	Brain Angular Gyrus	brain
29	chr16:48346000-48355000	Weak transcription	Psoas Muscle	Psoas
30	chr16:48346600-48349400	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr16:48346600-48350800	Weak transcription	Primary T cells from cord blood	blood
32	chr16:48346600-48351400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr16:48346600-48364200	Weak transcription	Brain Cingulate Gyrus	brain
34	chr16:48346600-48368200	Weak transcription	Colon Smooth Muscle	Colon
35	chr16:48346800-48349400	Strong transcription	Fetal Intestine Large	intestine
36	chr16:48346800-48349600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr16:48346800-48350800	Weak transcription	HSMMtube	muscle
38	chr16:48346800-48350800	Weak transcription	NHEK	skin
39	chr16:48346800-48351600	Weak transcription	Spleen	Spleen
40	chr16:48346800-48352400	Weak transcription	Fetal Brain Male	brain
41	chr16:48346800-48368200	Weak transcription	A549	lung
42	chr16:48347000-48350000	Weak transcription	Fetal Stomach	stomach
43	chr16:48347000-48350800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr16:48347000-48351000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr16:48347000-48351000	Weak transcription	Thymus	Thymus
46	chr16:48347000-48351600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr16:48347000-48351600	Weak transcription	Right Ventricle	heart
48	chr16:48347000-48351800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr16:48347000-48352000	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr16:48347000-48352200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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