Variant report

Variant	rs4253052
Chromosome Location	chr10:50731733-50731734
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:50729482..50733326-chr10:50734602..50739448,5	K562	blood:
2	chr10:50724821..50729589-chr10:50731335..50734731,5	K562	blood:
3	chr10:50731383..50733326-chr10:50736507..50739448,3	K562	blood:

Variant related genes	Relation type
ENSG00000225830	Chromatin interaction
ENSG00000243251	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10399986	0.85[AMR][1000 genomes]
rs10400121	0.85[AMR][1000 genomes]
rs17010116	1.00[AMR][1000 genomes]
rs4253017	1.00[AMR][1000 genomes]
rs4253025	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4253037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4253074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4253075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4253096	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4253111	1.00[AMR][1000 genomes]
rs4253143	1.00[AMR][1000 genomes]
rs4253146	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4253197	1.00[AMR][1000 genomes]
rs57612136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58927526	1.00[AMR][1000 genomes]
rs61352664	1.00[AMR][1000 genomes]
rs61476133	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73296102	0.80[AFR][1000 genomes]
rs73297711	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297712	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297721	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297732	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297734	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297740	1.00[AMR][1000 genomes]
rs73297743	1.00[AMR][1000 genomes]
rs73297744	1.00[AMR][1000 genomes]
rs73297746	1.00[AMR][1000 genomes]
rs73305578	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73305599	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73311019	1.00[AFR][1000 genomes];1.00[AMR][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	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv831867	chr10:50607857-50788751	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv3346476	chr10:50610853-50987802	Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3385048	chr10:50610942-50988537	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
6	nsv1051636	chr10:50675292-50732280	Strong transcription ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv933981	chr10:50730049-50732868	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50696400-50731800	Weak transcription	Small Intestine	intestine
2	chr10:50707000-50732200	Weak transcription	NHDF-Ad	bronchial
3	chr10:50707600-50735600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr10:50715000-50732200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr10:50717200-50736200	Weak transcription	Colon Smooth Muscle	Colon
6	chr10:50717200-50746000	Weak transcription	Fetal Heart	heart
7	chr10:50717400-50737000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr10:50720400-50746200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr10:50721600-50734800	Weak transcription	A549	lung
10	chr10:50723000-50734400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr10:50723000-50741000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr10:50723200-50741000	Strong transcription	Primary T cells from cord blood	blood
13	chr10:50723200-50741000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr10:50723200-50741000	Strong transcription	HMEC	breast
15	chr10:50723200-50741800	Strong transcription	Osteobl	bone
16	chr10:50723400-50739600	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr10:50723400-50741000	Strong transcription	Fetal Intestine Large	intestine
18	chr10:50723400-50741000	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr10:50723400-50741600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr10:50723400-50741600	Strong transcription	NHEK	skin
21	chr10:50723600-50741000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr10:50723800-50731800	Weak transcription	NHLF	lung
23	chr10:50724200-50732200	Weak transcription	Pancreas	Pancrea
24	chr10:50724400-50734800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr10:50724600-50732200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr10:50725000-50746200	Weak transcription	Psoas Muscle	Psoas
27	chr10:50725400-50733000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr10:50725600-50732200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr10:50726600-50732000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr10:50726600-50734000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr10:50726800-50731800	Weak transcription	Lung	lung
32	chr10:50726800-50739600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr10:50727600-50734000	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr10:50727800-50732000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr10:50727800-50733400	Strong transcription	HUVEC	blood vessel
36	chr10:50727800-50741000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr10:50727800-50741000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr10:50727800-50741000	Strong transcription	Adipose Nuclei	Adipose
39	chr10:50727800-50741200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr10:50728000-50732600	Strong transcription	Thymus	Thymus
41	chr10:50728000-50734400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr10:50728200-50734200	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr10:50728200-50741000	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr10:50728200-50741400	Strong transcription	HSMM	muscle
45	chr10:50728400-50733000	Weak transcription	Fetal Brain Male	brain
46	chr10:50728400-50738600	Strong transcription	Fetal Thymus	thymus
47	chr10:50728400-50741000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr10:50728400-50741000	Strong transcription	Placenta	Placenta
49	chr10:50728600-50732000	Weak transcription	Fetal Brain Female	brain
50	chr10:50728600-50732600	Enhancers	Brain Anterior Caudate	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links