Variant report

Variant	rs60624976
Chromosome Location	chr16:81418132-81418133
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1037971	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16955221	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16955238	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16955251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16955255	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16955259	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1934	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs41484544	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57170812	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58655554	0.85[EUR][1000 genomes]
rs61096092	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7200991	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7201420	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7202625	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73602865	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73602873	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73602876	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8053778	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8054921	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8058442	0.94[EUR][1000 genomes]
rs8059072	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv1061359	chr16:81349826-81471867	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
5	nsv542992	chr16:81349826-81471867	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81382400-81418400	Weak transcription	Small Intestine	intestine
2	chr16:81384200-81434600	Weak transcription	NHLF	lung
3	chr16:81384200-81437400	Weak transcription	Fetal Brain Male	brain
4	chr16:81385600-81418200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr16:81386400-81424200	Weak transcription	Psoas Muscle	Psoas
6	chr16:81387000-81428600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr16:81392000-81428400	Weak transcription	Fetal Heart	heart
8	chr16:81397400-81426400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr16:81399200-81431000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr16:81400000-81427200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr16:81400000-81434600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr16:81405200-81418400	Weak transcription	Right Atrium	heart
13	chr16:81406600-81423800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr16:81411200-81424400	Weak transcription	Colonic Mucosa	Colon
15	chr16:81411200-81428400	Weak transcription	GM12878-XiMat	blood
16	chr16:81411400-81418200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr16:81411400-81418400	Weak transcription	Lung	lung
18	chr16:81411400-81419200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr16:81411400-81421600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr16:81411400-81422600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr16:81411400-81428000	Weak transcription	Spleen	Spleen
22	chr16:81411400-81428200	Weak transcription	Stomach Mucosa	stomach
23	chr16:81411400-81429200	Weak transcription	Primary B cells from peripheral blood	blood
24	chr16:81411400-81429600	Weak transcription	HSMM	muscle
25	chr16:81411600-81418400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr16:81411600-81420400	Weak transcription	Right Ventricle	heart
27	chr16:81411600-81428600	Weak transcription	Fetal Kidney	kidney
28	chr16:81411600-81437400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr16:81411800-81419000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr16:81411800-81423000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr16:81411800-81424400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr16:81411800-81424600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr16:81411800-81428200	Weak transcription	Fetal Brain Female	brain
34	chr16:81411800-81428200	Weak transcription	Osteobl	bone
35	chr16:81411800-81428600	Weak transcription	HSMMtube	muscle
36	chr16:81411800-81431000	Weak transcription	K562	blood
37	chr16:81411800-81432400	Weak transcription	A549	lung
38	chr16:81412000-81420400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr16:81412000-81420600	Weak transcription	Fetal Muscle Leg	muscle
40	chr16:81412000-81421600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr16:81412000-81421600	Weak transcription	Gastric	stomach
42	chr16:81412000-81422800	Weak transcription	NHEK	skin
43	chr16:81412000-81423000	Weak transcription	Thymus	Thymus
44	chr16:81412000-81424400	Weak transcription	Aorta	Aorta
45	chr16:81412000-81424600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr16:81412000-81424600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr16:81412000-81426200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr16:81412200-81422800	Weak transcription	Fetal Thymus	thymus
49	chr16:81412200-81424400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr16:81412200-81425400	Weak transcription	NH-A	brain

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