Variant report

Variant	rs2295303
Chromosome Location	chr14:24788220-24788221
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:24768588..24770601-chr14:24787605..24789791,2	MCF-7	breast:
2	chr14:24785563..24788287-chr14:24805710..24808640,2	MCF-7	breast:
3	chr14:24781460..24810019-chr14:24892340..24914262,110	MCF-7	breast:
4	chr14:24786484..24789445-chr14:24867448..24869110,2	K562	blood:
5	chr14:24787037..24788840-chr14:24897409..24899159,2	K562	blood:

Variant related genes	Relation type
ENSG00000196943	Chromatin interaction
ENSG00000100445	Chromatin interaction
ENSG00000139899	Chromatin interaction
ENSG00000157379	Chromatin interaction
ENSG00000129465	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000258973	Chromatin interaction
ENSG00000205978	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10138762	0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10144194	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1053648	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1053649	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12587807	0.95[ASN][1000 genomes]
rs12891891	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12896458	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1950505	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2144492	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2144493	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2180197	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2281472	0.90[ASN][1000 genomes]
rs2332232	0.80[ASN][1000 genomes]
rs3181382	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3742510	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3742511	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4247000	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4247001	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4982895	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6573678	0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs941506	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];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	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv901500	chr14:24765622-24793762	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	n/a
4	nsv901501	chr14:24771285-24793762	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	n/a
5	nsv564059	chr14:24776401-24796813	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv564060	chr14:24776401-24809795	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24784600-24796400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr14:24784800-24796600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr14:24785000-24789000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr14:24785200-24788800	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
5	chr14:24786200-24801600	Weak transcription	Left Ventricle	heart
6	chr14:24786400-24792200	Weak transcription	Esophagus	oesophagus
7	chr14:24786800-24790800	Weak transcription	Lung	lung
8	chr14:24787000-24801200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr14:24787200-24796400	Weak transcription	Osteobl	bone
10	chr14:24787400-24791400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr14:24787600-24788400	Bivalent Enhancer	Placenta	Placenta
12	chr14:24787600-24788400	Strong transcription	Gastric	stomach
13	chr14:24787600-24789000	Weak transcription	K562	blood
14	chr14:24787600-24789200	Strong transcription	Adipose Nuclei	Adipose
15	chr14:24787800-24788400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr14:24787800-24793600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr14:24788000-24788600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr14:24788000-24788600	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr14:24788000-24792000	Weak transcription	Right Ventricle	heart
20	chr14:24788200-24788400	Bivalent Enhancer	Fetal Intestine Large	intestine
21	chr14:24788200-24789200	Strong transcription	Spleen	Spleen

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