Variant report

Variant	rs2722739
Chromosome Location	chr19:44859645-44859646
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44858569..44859729-chr2:133105937..133107575,6	MCF-7	breast:
2	chr19:44859033..44861169-chr2:133104533..133106354,2	K562	blood:

Variant related genes	Relation type
ENSG00000272769	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1347349	0.93[ASN][1000 genomes]
rs1369100	0.90[ASN][1000 genomes]
rs1836273	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2164112	0.93[ASN][1000 genomes]
rs2164113	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2168990	0.83[ASN][1000 genomes]
rs2196185	0.93[ASN][1000 genomes]
rs2249402	0.84[ASN][1000 genomes]
rs2262860	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2446491	0.84[ASN][1000 genomes]
rs2466421	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2571100	0.87[ASN][1000 genomes]
rs2571105	0.86[ASN][1000 genomes]
rs2571106	0.83[ASN][1000 genomes]
rs2609881	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2609883	0.84[ASN][1000 genomes]
rs2609887	0.84[ASN][1000 genomes]
rs2609889	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2609890	0.84[ASN][1000 genomes]
rs2609892	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2609898	0.83[ASN][1000 genomes]
rs2609905	0.81[ASN][1000 genomes]
rs2609906	0.84[ASN][1000 genomes]
rs2609907	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2722707	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2722708	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2722711	0.84[ASN][1000 genomes]
rs2722715	0.84[ASN][1000 genomes]
rs2722716	0.84[ASN][1000 genomes]
rs2722717	0.84[ASN][1000 genomes]
rs2722718	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2722719	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2722721	0.88[CEU][hapmap];0.80[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2722735	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2722736	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2722738	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59555311	0.84[ASN][1000 genomes]
rs6509153	0.84[ASN][1000 genomes]
rs874187	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs898175	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs898176	0.84[ASN][1000 genomes]
rs898177	0.84[ASN][1000 genomes]
rs898179	0.82[ASN][1000 genomes]
rs984116	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
7	nsv579856	chr19:44855757-44899820	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv912113	chr19:44858776-44928885	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv912114	chr19:44858776-45002563	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 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	chr19:44840800-44860000	Weak transcription	NHDF-Ad	bronchial
2	chr19:44844200-44859800	Weak transcription	Osteobl	bone
3	chr19:44845000-44860000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr19:44845200-44860000	Weak transcription	HSMM	muscle
5	chr19:44845400-44859800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr19:44849600-44859800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr19:44850400-44860000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr19:44850400-44860200	Weak transcription	Left Ventricle	heart
9	chr19:44851400-44860400	Weak transcription	Aorta	Aorta
10	chr19:44852600-44859800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr19:44854400-44860000	Weak transcription	Ovary	ovary
12	chr19:44854800-44860000	Weak transcription	Pancreas	Pancrea
13	chr19:44855400-44860000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr19:44855600-44860000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr19:44855800-44860000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr19:44856600-44859800	Weak transcription	Brain Anterior Caudate	brain
17	chr19:44857000-44859800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr19:44857800-44859800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr19:44859000-44859800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr19:44859200-44859800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr19:44859200-44859800	Weak transcription	A549	lung
22	chr19:44859200-44859800	Enhancers	HMEC	breast
23	chr19:44859200-44860200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr19:44859400-44859800	Weak transcription	Fetal Lung	lung
25	chr19:44859600-44859800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr19:44859600-44859800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr19:44859600-44859800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr19:44859600-44859800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr19:44859600-44859800	Active TSS	Liver	Liver
30	chr19:44859600-44859800	Enhancers	Brain Angular Gyrus	brain
31	chr19:44859600-44859800	Enhancers	Brain Cingulate Gyrus	brain
32	chr19:44859600-44859800	Enhancers	Brain Hippocampus Middle	brain
33	chr19:44859600-44859800	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr19:44859600-44859800	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr19:44859600-44859800	Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr19:44859600-44860000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr19:44859600-44860200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr19:44859600-44860200	Flanking Active TSS	NHEK	skin
39	chr19:44859600-44861000	Active TSS	Duodenum Mucosa	Duodenum
40	chr19:44859600-44862000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr19:44859600-44862000	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr19:44859600-44862000	Active TSS	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links