Variant report

Variant	rs61311029
Chromosome Location	chr14:56710725-56710726
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:56707205..56711139-chr14:56711153..56714589,3	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10132757	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12589133	0.90[ASN][1000 genomes]
rs12589933	0.93[ASN][1000 genomes]
rs1382977	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17091123	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17091196	0.86[ASN][1000 genomes]
rs242581	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs242582	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs28662163	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs385141	0.88[ASN][1000 genomes]
rs58116791	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7143560	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7152487	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7161103	0.81[ASN][1000 genomes]
rs7161274	0.80[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs754314	0.87[ASN][1000 genomes]
rs8009804	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8014574	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533129	chr14:56568535-56819234	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv1844788	chr14:56594420-56771207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1044886	chr14:56689682-56834648	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv542104	chr14:56689682-56834648	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56689800-56715800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr14:56693200-56724400	Weak transcription	Gastric	stomach
3	chr14:56694000-56723000	Weak transcription	Lung	lung
4	chr14:56696000-56715600	Weak transcription	Fetal Thymus	thymus
5	chr14:56702600-56717600	Weak transcription	Ovary	ovary
6	chr14:56704000-56716800	Weak transcription	Fetal Intestine Small	intestine
7	chr14:56704400-56716600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr14:56704600-56710800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr14:56704600-56715200	Weak transcription	Aorta	Aorta
10	chr14:56704600-56716000	Weak transcription	Primary T cells from cord blood	blood
11	chr14:56705800-56710800	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr14:56707200-56717400	Weak transcription	Pancreas	Pancrea
13	chr14:56707400-56715200	Weak transcription	Thymus	Thymus
14	chr14:56707600-56716200	Weak transcription	Primary B cells from cord blood	blood
15	chr14:56708400-56711200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:56708800-56711200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr14:56709000-56714800	Weak transcription	Dnd41	blood
18	chr14:56709800-56710800	Enhancers	A549	lung
19	chr14:56710000-56710800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr14:56710000-56711000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr14:56710000-56711400	Enhancers	Fetal Stomach	stomach
22	chr14:56710000-56711400	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr14:56710000-56711600	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr14:56710000-56712000	Enhancers	NHLF	lung
25	chr14:56710200-56710800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr14:56710200-56710800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr14:56710600-56710800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr14:56710600-56710800	Enhancers	NH-A	brain
29	chr14:56710600-56710800	Enhancers	Osteobl	bone
30	chr14:56710600-56711200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr14:56710600-56711200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr14:56710600-56711200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr14:56710600-56711600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr14:56710600-56711600	Enhancers	Colon Smooth Muscle	Colon
35	chr14:56710600-56711600	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr14:56710600-56711600	Flanking Active TSS	NHDF-Ad	bronchial
37	chr14:56710600-56717200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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