Variant report

Variant	rs4253017
Chromosome Location	chr10:50739915-50739916
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:50717195..50718876-chr10:50739121..50741065,2	K562	blood:
2	chr10:50737860..50742863-chr10:50744224..50749108,7	MCF-7	breast:
3	chr10:50738435..50741425-chr10:50746279..50748741,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000225830	Chromatin interaction
ENSG00000258838	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10399986	0.85[AMR][1000 genomes]
rs10400121	0.85[AMR][1000 genomes]
rs17010116	1.00[AMR][1000 genomes]
rs4253025	1.00[AMR][1000 genomes]
rs4253037	1.00[AMR][1000 genomes]
rs4253052	1.00[AMR][1000 genomes]
rs4253074	1.00[AMR][1000 genomes]
rs4253075	1.00[AMR][1000 genomes]
rs4253096	1.00[AMR][1000 genomes]
rs4253111	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4253143	1.00[AMR][1000 genomes]
rs4253146	1.00[AMR][1000 genomes]
rs4253197	1.00[AMR][1000 genomes]
rs57612136	1.00[AMR][1000 genomes]
rs58927526	1.00[AMR][1000 genomes]
rs61352664	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61476133	1.00[AMR][1000 genomes]
rs73297711	1.00[AMR][1000 genomes]
rs73297712	1.00[AMR][1000 genomes]
rs73297721	1.00[AMR][1000 genomes]
rs73297732	1.00[AMR][1000 genomes]
rs73297734	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	1.00[AMR][1000 genomes]
rs73305599	1.00[AMR][1000 genomes]
rs73311019	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50717200-50746000	Weak transcription	Fetal Heart	heart
2	chr10:50720400-50746200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr10:50723000-50741000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr10:50723200-50741000	Strong transcription	Primary T cells from cord blood	blood
5	chr10:50723200-50741000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr10:50723200-50741000	Strong transcription	HMEC	breast
7	chr10:50723200-50741800	Strong transcription	Osteobl	bone
8	chr10:50723400-50741000	Strong transcription	Fetal Intestine Large	intestine
9	chr10:50723400-50741000	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr10:50723400-50741600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr10:50723400-50741600	Strong transcription	NHEK	skin
12	chr10:50723600-50741000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr10:50725000-50746200	Weak transcription	Psoas Muscle	Psoas
14	chr10:50727800-50741000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr10:50727800-50741000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr10:50727800-50741000	Strong transcription	Adipose Nuclei	Adipose
17	chr10:50727800-50741200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr10:50728200-50741000	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr10:50728200-50741400	Strong transcription	HSMM	muscle
20	chr10:50728400-50741000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr10:50728400-50741000	Strong transcription	Placenta	Placenta
22	chr10:50728600-50740600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr10:50728600-50741400	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr10:50728800-50741000	Strong transcription	Dnd41	blood
25	chr10:50728800-50742000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr10:50729000-50745800	Weak transcription	Stomach Mucosa	stomach
27	chr10:50729200-50741400	Strong transcription	Muscle Satellite Cultured Cells	--
28	chr10:50729200-50742400	Strong transcription	Hela-S3	cervix
29	chr10:50729600-50740000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr10:50730000-50746400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr10:50730600-50741000	Strong transcription	Duodenum Mucosa	Duodenum
32	chr10:50730600-50741200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr10:50730800-50741000	Strong transcription	Ovary	ovary
34	chr10:50730800-50741400	Strong transcription	Primary B cells from peripheral blood	blood
35	chr10:50731000-50740400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr10:50731000-50741400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr10:50731200-50740800	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr10:50731200-50741000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr10:50731400-50740600	Strong transcription	NH-A	brain
40	chr10:50731400-50741000	Strong transcription	Liver	Liver
41	chr10:50731600-50740800	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr10:50731600-50741000	Strong transcription	Primary hematopoietic stem cells	blood
43	chr10:50731600-50746200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr10:50731800-50745800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr10:50732000-50741000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr10:50732000-50741000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr10:50732000-50741000	Strong transcription	Fetal Brain Female	brain
48	chr10:50732400-50746000	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr10:50732600-50746000	Weak transcription	Small Intestine	intestine
50	chr10:50733000-50740800	Strong transcription	Fetal Kidney	kidney

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