Variant report

Variant	rs72650422
Chromosome Location	chr8:61521397-61521398
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61520531..61524778-chr8:61525857..61529848,4	K562	blood:
2	chr8:61519878..61522634-chr8:61564445..61566821,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254869	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1384687	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16926270	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16926284	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16926294	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16926324	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16926354	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16926358	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1893273	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1941462	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2007283	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2178953	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3735827	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55761966	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55831959	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55837608	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55841758	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56030634	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56114656	0.83[ASN][1000 genomes]
rs56123131	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56141796	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56160504	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56165842	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56192263	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56332284	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56342714	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57550331	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58183709	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59162154	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59861870	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60012828	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60183060	0.83[ASN][1000 genomes]
rs60369157	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60991551	0.81[ASN][1000 genomes]
rs61120651	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6471892	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6980590	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7016685	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs714207	1.00[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	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72648589	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72648590	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72648594	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72648597	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72648602	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72650405	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72650416	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72650417	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72650425	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7817790	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7825009	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7825055	0.84[ASN][1000 genomes]
rs7830976	0.83[ASN][1000 genomes]
rs7845982	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	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	nsv870164	chr8:61484657-61529482	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv6218	chr8:61485410-61530933	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv1796952	chr8:61492893-61531418	Strong transcription Genic enhancers Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	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

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61481000-61527400	Weak transcription	Psoas Muscle	Psoas
2	chr8:61500400-61542200	Weak transcription	Hela-S3	cervix
3	chr8:61506000-61523200	Weak transcription	Fetal Heart	heart
4	chr8:61506000-61532200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr8:61506400-61532400	Weak transcription	NHLF	lung
6	chr8:61508000-61521600	Weak transcription	NHEK	skin
7	chr8:61508800-61533000	Weak transcription	HUVEC	blood vessel
8	chr8:61512400-61526200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:61512600-61521800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr8:61512800-61522600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:61512800-61527800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:61513000-61528400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:61515600-61521600	Weak transcription	Right Ventricle	heart
14	chr8:61515600-61532200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr8:61515600-61533400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr8:61516000-61532000	Weak transcription	NHDF-Ad	bronchial
17	chr8:61516200-61521400	Weak transcription	HMEC	breast
18	chr8:61516200-61533200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr8:61517800-61522200	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr8:61517800-61532200	Weak transcription	Small Intestine	intestine
21	chr8:61517800-61537800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr8:61518000-61521400	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr8:61518000-61521400	Weak transcription	HepG2	liver
24	chr8:61518000-61522800	Strong transcription	Fetal Lung	lung
25	chr8:61518000-61524000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr8:61518000-61524200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:61518000-61530800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr8:61518000-61532000	Weak transcription	Colon Smooth Muscle	Colon
29	chr8:61518000-61532000	Weak transcription	Fetal Brain Male	brain
30	chr8:61518000-61534000	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr8:61518000-61536600	Weak transcription	Aorta	Aorta
32	chr8:61518200-61521400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:61518200-61521400	Weak transcription	Primary hematopoietic stem cells	blood
34	chr8:61518200-61521400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr8:61518200-61521400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:61518200-61521400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr8:61518200-61521400	Weak transcription	Colonic Mucosa	Colon
38	chr8:61518200-61521600	Weak transcription	Brain Germinal Matrix	brain
39	chr8:61518200-61521600	Weak transcription	Left Ventricle	heart
40	chr8:61518200-61521600	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr8:61518200-61521600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr8:61518200-61521600	Weak transcription	Thymus	Thymus
43	chr8:61518200-61521600	Weak transcription	K562	blood
44	chr8:61518200-61523000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr8:61518200-61523200	Weak transcription	HSMM	muscle
46	chr8:61518200-61523600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr8:61518200-61523600	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr8:61518200-61523800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr8:61518200-61524000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr8:61518200-61524000	Strong transcription	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links