Variant report

Variant	rs55837608
Chromosome Location	chr8:61538423-61538424
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61534044..61535710-chr8:61537564..61539138,2	K562	blood:
2	chr8:61534210..61537266-chr8:61537564..61540249,3	K562	blood:
3	chr8:61525175..61527465-chr8:61536083..61538610,2	K562	blood:
4	chr8:61537605..61539859-chr8:61545071..61546845,2	K562	blood:
5	chr8:61535766..61537350-chr8:61537697..61540249,2	K562	blood:

Variant related genes	Relation type
ENSG00000228862	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1384687	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16926270	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16926284	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16926294	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16926324	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16926354	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16926358	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1893273	0.90[ASN][1000 genomes]
rs1941462	0.90[ASN][1000 genomes]
rs2007283	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2178953	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3735827	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55761966	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55831959	0.84[ASN][1000 genomes]
rs55841758	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56030634	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56114656	0.83[ASN][1000 genomes]
rs56123131	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56141796	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56160504	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56165842	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56192263	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56332284	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56342714	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57550331	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58183709	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59162154	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59861870	0.90[ASN][1000 genomes]
rs60012828	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60183060	0.83[ASN][1000 genomes]
rs60369157	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60991551	0.81[ASN][1000 genomes]
rs61120651	0.90[ASN][1000 genomes]
rs6471892	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6980590	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7016685	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs714207	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72648553	0.83[ASN][1000 genomes]
rs72648562	0.81[ASN][1000 genomes]
rs72648567	0.83[ASN][1000 genomes]
rs72648576	0.90[ASN][1000 genomes]
rs72648589	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72648590	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72648594	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72648597	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72648602	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72650405	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72650416	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72650417	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72650422	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72650425	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7817790	0.90[ASN][1000 genomes]
rs7825009	0.87[ASN][1000 genomes]
rs7825055	0.84[ASN][1000 genomes]
rs7830976	0.83[ASN][1000 genomes]
rs7845982	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv530383	chr8:61431756-61605551	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv831335	chr8:61497540-61688992	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv890945	chr8:61522008-61707725	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61500400-61542200	Weak transcription	Hela-S3	cervix
2	chr8:61519800-61541800	Weak transcription	Esophagus	oesophagus
3	chr8:61520200-61540000	Weak transcription	Fetal Intestine Small	intestine
4	chr8:61522000-61538800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:61522600-61538600	Weak transcription	Left Ventricle	heart
6	chr8:61522800-61538600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr8:61524200-61538600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr8:61532600-61539200	Weak transcription	Fetal Muscle Leg	muscle
9	chr8:61532600-61541600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr8:61533400-61538600	Weak transcription	Brain Hippocampus Middle	brain
11	chr8:61534000-61539600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr8:61534200-61540600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:61535000-61539200	Weak transcription	NHLF	lung
14	chr8:61535000-61542000	Weak transcription	A549	lung
15	chr8:61535200-61538600	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr8:61535200-61538600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr8:61535400-61538600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:61535400-61538600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:61535400-61541600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:61535400-61542200	Weak transcription	HSMMtube	muscle
21	chr8:61535600-61538600	Weak transcription	Adipose Nuclei	Adipose
22	chr8:61535600-61538800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr8:61535600-61538800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr8:61535600-61538800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr8:61535600-61539200	Weak transcription	Fetal Intestine Large	intestine
26	chr8:61535600-61541600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:61536000-61539200	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr8:61536000-61540600	Weak transcription	HUVEC	blood vessel
29	chr8:61536000-61541600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:61536200-61538600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:61536200-61538800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:61536200-61539000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr8:61536200-61539000	Weak transcription	Primary hematopoietic stem cells	blood
34	chr8:61536200-61539200	Weak transcription	HSMM	muscle
35	chr8:61536200-61539400	Weak transcription	Liver	Liver
36	chr8:61536200-61539800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr8:61536200-61540000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr8:61536200-61540200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr8:61536200-61541200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr8:61536200-61541600	Weak transcription	HMEC	breast
41	chr8:61536400-61539200	Weak transcription	NHDF-Ad	bronchial
42	chr8:61538200-61544000	Weak transcription	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links