Variant report

Variant	rs8059072
Chromosome Location	chr16:81409970-81409971
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:81408562..81410572-chr16:81817269..81819390,2	K562	blood:
2	chr16:81402764..81405493-chr16:81409051..81411986,2	K562	blood:
3	chr16:81406207..81407721-chr16:81409165..81410786,2	MCF-7	breast:
4	chr16:81348439..81350259-chr16:81409837..81412238,3	MCF-7	breast:
5	chr16:81402764..81406733-chr16:81409051..81413423,3	K562	blood:
6	chr16:81409751..81411946-chr16:81415475..81417498,3	MCF-7	breast:
7	chr16:81402253..81405317-chr16:81407967..81410469,4	MCF-7	breast:
8	chr16:81409476..81411284-chr16:81422287..81424681,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000197943	Chromatin interaction
ENSG00000261609	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1037971	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16955221	1.00[CEU][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16955238	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16955251	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16955255	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16955259	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17189030	0.82[AMR][1000 genomes]
rs1934	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs41484544	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57170812	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58655554	0.85[EUR][1000 genomes]
rs60624976	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61096092	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7200991	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7201420	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7202625	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73586406	0.83[AFR][1000 genomes]
rs73589372	0.82[AMR][1000 genomes]
rs73602865	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73602873	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73602876	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8053778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8054921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8058442	0.82[AFR][1000 genomes];0.94[EUR][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	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
6	nsv978320	chr16:81400082-81410915	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	3 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	chr16:81379400-81410600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr16:81382400-81418400	Weak transcription	Small Intestine	intestine
3	chr16:81384000-81410600	Weak transcription	Fetal Kidney	kidney
4	chr16:81384200-81434600	Weak transcription	NHLF	lung
5	chr16:81384200-81437400	Weak transcription	Fetal Brain Male	brain
6	chr16:81385400-81410800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr16:81385600-81418200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr16:81386400-81424200	Weak transcription	Psoas Muscle	Psoas
9	chr16:81387000-81428600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr16:81387600-81415200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr16:81388800-81410200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr16:81391200-81417600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr16:81392000-81411000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr16:81392000-81428400	Weak transcription	Fetal Heart	heart
15	chr16:81397400-81426400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr16:81399000-81410600	Weak transcription	Pancreas	Pancrea
17	chr16:81399000-81417400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr16:81399200-81431000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr16:81399400-81410400	Weak transcription	NH-A	brain
20	chr16:81399600-81410600	Weak transcription	Spleen	Spleen
21	chr16:81399600-81413000	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr16:81399800-81414000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr16:81400000-81410400	Weak transcription	Brain Hippocampus Middle	brain
24	chr16:81400000-81410400	Weak transcription	Brain Substantia Nigra	brain
25	chr16:81400000-81410400	Weak transcription	Fetal Thymus	thymus
26	chr16:81400000-81410800	Weak transcription	Fetal Brain Female	brain
27	chr16:81400000-81427200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr16:81400000-81434600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr16:81400200-81410400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr16:81400200-81410600	Weak transcription	Primary B cells from peripheral blood	blood
31	chr16:81401400-81411800	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr16:81402000-81410600	Weak transcription	Hela-S3	cervix
33	chr16:81402000-81415000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr16:81402200-81418000	Weak transcription	Brain Germinal Matrix	brain
35	chr16:81402400-81410600	Weak transcription	Aorta	Aorta
36	chr16:81402400-81410600	Weak transcription	Colon Smooth Muscle	Colon
37	chr16:81402600-81410400	Weak transcription	Fetal Lung	lung
38	chr16:81402600-81410600	Weak transcription	Thymus	Thymus
39	chr16:81402600-81411000	Weak transcription	Right Ventricle	heart
40	chr16:81402800-81410400	Weak transcription	HSMMtube	muscle
41	chr16:81403000-81410400	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr16:81404200-81410400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr16:81404400-81410200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr16:81404400-81410400	Weak transcription	GM12878-XiMat	blood
45	chr16:81404400-81410600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr16:81404400-81410600	Weak transcription	Esophagus	oesophagus
47	chr16:81404400-81410600	Weak transcription	K562	blood
48	chr16:81404400-81410800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr16:81404400-81417200	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr16:81404600-81410200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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