Variant report

Variant	rs2262860
Chromosome Location	chr19:44854752-44854753
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1347349	1.00[ASN][1000 genomes]
rs1369100	0.97[ASN][1000 genomes]
rs1836273	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2164112	1.00[ASN][1000 genomes]
rs2164113	1.00[ASN][1000 genomes]
rs2168990	0.90[ASN][1000 genomes]
rs2196185	1.00[ASN][1000 genomes]
rs2249402	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2446491	0.89[ASN][1000 genomes]
rs2466421	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2571100	0.94[ASN][1000 genomes]
rs2571105	0.93[ASN][1000 genomes]
rs2571106	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2609881	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2609883	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2609887	0.89[ASN][1000 genomes]
rs2609889	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2609890	0.89[ASN][1000 genomes]
rs2609892	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2609898	0.90[ASN][1000 genomes]
rs2609905	0.85[ASN][1000 genomes]
rs2609906	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2722707	0.89[ASN][1000 genomes]
rs2722708	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2722711	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2722715	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2722716	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2722717	0.89[ASN][1000 genomes]
rs2722718	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2722719	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2722721	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2722735	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2722736	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2722738	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2722739	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59555311	0.89[ASN][1000 genomes]
rs6509153	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs874187	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs898175	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs898176	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs898177	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs898179	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs984116	0.94[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	nsv912110	chr19:44840789-44902190	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv963093	chr19:44850276-44876742	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv912111	chr19:44852134-44902190	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv579855	chr19:44852134-44930348	Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv515911	chr19:44852134-44935019	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv912112	chr19:44853707-45011727	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44823200-44856200	ZNF genes & repeats	Liver	Liver
2	chr19:44840800-44860000	Weak transcription	NHDF-Ad	bronchial
3	chr19:44844200-44859600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr19:44844200-44859800	Weak transcription	Osteobl	bone
5	chr19:44845000-44860000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr19:44845200-44860000	Weak transcription	HSMM	muscle
7	chr19:44845400-44859800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr19:44847400-44855200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
9	chr19:44847800-44855400	Weak transcription	Right Ventricle	heart
10	chr19:44848200-44854800	Weak transcription	Fetal Brain Male	brain
11	chr19:44849600-44859800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr19:44850400-44860000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr19:44850400-44860200	Weak transcription	Left Ventricle	heart
14	chr19:44851400-44860400	Weak transcription	Aorta	Aorta
15	chr19:44852400-44855400	ZNF genes & repeats	Adipose Nuclei	Adipose
16	chr19:44852600-44859800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr19:44854400-44860000	Weak transcription	Ovary	ovary
18	chr19:44854600-44855400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links