Variant report

Variant	rs57652067
Chromosome Location	chr8:42846670-42846671
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1052654	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11986681	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11987893	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11990515	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11997799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13251524	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13257298	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16891663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34100417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34864660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35252795	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35688388	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs57797146	0.94[AFR][1000 genomes]
rs58729413	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60292433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62515942	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62515949	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62517585	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6996034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6999489	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7004940	0.99[AFR][1000 genomes]
rs7014595	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71521601	0.82[AMR][1000 genomes]
rs7462864	0.96[AMR][1000 genomes]
rs7821062	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7829867	0.93[AMR][1000 genomes];0.96[EUR][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	nsv890846	chr8:42625663-43240123	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1024688	chr8:42709414-43333639	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv539563	chr8:42709414-43333639	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1033927	chr8:42748842-43575771	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS 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 miRNA target site	87 gene(s)	inside rSNPs	diseases
5	nsv533812	chr8:42755447-43528350	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
6	nsv1032781	chr8:42772394-43461484	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
7	nsv1021281	chr8:42807619-43472678	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42776000-42874800	Weak transcription	Fetal Heart	heart
2	chr8:42819200-42848600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr8:42819800-42846800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr8:42821800-42848000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr8:42823400-42875600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr8:42824800-42874800	Weak transcription	Hela-S3	cervix
7	chr8:42827200-42848000	Strong transcription	Duodenum Smooth Muscle	Duodenum
8	chr8:42827600-42848200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:42830800-42847800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr8:42830800-42848000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr8:42830800-42848200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr8:42830800-42865400	Weak transcription	NHLF	lung
13	chr8:42830800-42865800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr8:42831600-42865800	Weak transcription	Right Ventricle	heart
15	chr8:42831800-42872200	Weak transcription	Gastric	stomach
16	chr8:42833000-42851200	Weak transcription	Aorta	Aorta
17	chr8:42837400-42847800	Strong transcription	Adipose Nuclei	Adipose
18	chr8:42837400-42848800	Strong transcription	Skeletal Muscle Female	skeletal muscle
19	chr8:42837400-42850200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:42837600-42848400	Strong transcription	Stomach Smooth Muscle	stomach
21	chr8:42838200-42865800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:42838200-42872200	Weak transcription	K562	blood
23	chr8:42839000-42853000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr8:42839000-42858200	Weak transcription	Small Intestine	intestine
25	chr8:42839000-42866400	Weak transcription	Pancreas	Pancrea
26	chr8:42839200-42848000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr8:42840200-42866000	Weak transcription	Spleen	Spleen
28	chr8:42840200-42866600	Weak transcription	HepG2	liver
29	chr8:42841000-42847200	Strong transcription	Primary hematopoietic stem cells	blood
30	chr8:42841600-42847200	Strong transcription	HSMMtube	muscle
31	chr8:42841800-42847800	Strong transcription	Ovary	ovary
32	chr8:42841800-42848600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr8:42841800-42849800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr8:42841800-42860200	Strong transcription	Liver	Liver
35	chr8:42842000-42848400	Strong transcription	Primary B cells from cord blood	blood
36	chr8:42842000-42848800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr8:42842200-42847200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr8:42842200-42848400	Strong transcription	Osteobl	bone
39	chr8:42842400-42851400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr8:42842600-42847000	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr8:42843400-42847000	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr8:42843400-42853000	Weak transcription	Brain Hippocampus Middle	brain
43	chr8:42843600-42848000	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr8:42844000-42847600	Weak transcription	Fetal Kidney	kidney
45	chr8:42844000-42848000	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr8:42844200-42846800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr8:42844200-42857400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr8:42844200-42865400	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr8:42844400-42866600	Weak transcription	Esophagus	oesophagus
50	chr8:42844600-42873200	Weak transcription	HMEC	breast

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