Variant report

Variant	rs71414112
Chromosome Location	chr14:56734316-56734317
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:56683722..56686050-chr14:56732906..56735340,2	K562	blood:
2	chr14:56683693..56686050-chr14:56732906..56735340,3	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12885657	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12893420	0.92[AFR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12894473	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17091181	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17091199	0.89[AFR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17091214	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34732416	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs36063231	0.92[AFR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4898894	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55784562	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7144017	0.91[EUR][1000 genomes];0.97[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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56716600-56737800	Weak transcription	Aorta	Aorta
2	chr14:56717800-56737800	Weak transcription	Thymus	Thymus
3	chr14:56717800-56749600	Weak transcription	Fetal Thymus	thymus
4	chr14:56717800-56765400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:56718400-56755800	Weak transcription	Ovary	ovary
6	chr14:56718600-56735200	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr14:56718800-56751400	Weak transcription	Primary B cells from cord blood	blood
8	chr14:56723000-56735400	Weak transcription	Pancreas	Pancrea
9	chr14:56724600-56755200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr14:56725400-56746800	Weak transcription	Dnd41	blood
11	chr14:56725600-56742200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr14:56729200-56740600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr14:56731200-56747800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:56731400-56748000	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr14:56731800-56737800	Weak transcription	Lung	lung
16	chr14:56733000-56735200	Weak transcription	Primary T cells from cord blood	blood
17	chr14:56733200-56744000	Weak transcription	Gastric	stomach
18	chr14:56733800-56746400	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr14:56734000-56736200	Enhancers	Duodenum Mucosa	Duodenum
20	chr14:56734000-56750000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr14:56734200-56735200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr14:56734200-56735200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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