Variant report

Variant	rs1152470
Chromosome Location	chr14:56770861-56770862
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	chr14:56221789..56224702-chr14:56769776..56771612,2	K562	blood:
2	chr14:56769713..56772001-chr14:56773071..56775429,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11158091	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11158092	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1152467	0.92[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1152469	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1152472	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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	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
5	nsv901978	chr14:56740554-56799997	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv901979	chr14:56740554-56802610	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56738800-56775600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr14:56750400-56777600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:56753200-56773200	Weak transcription	Fetal Brain Male	brain
4	chr14:56754600-56771200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr14:56757400-56773200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr14:56758800-56772400	Weak transcription	Brain Germinal Matrix	brain
7	chr14:56759000-56777000	Weak transcription	Left Ventricle	heart
8	chr14:56764400-56774400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr14:56764400-56785600	Weak transcription	Lung	lung
10	chr14:56764400-56798200	Weak transcription	Pancreas	Pancrea
11	chr14:56764400-56808800	Weak transcription	Thymus	Thymus
12	chr14:56764800-56771200	Weak transcription	Fetal Brain Female	brain
13	chr14:56765000-56771200	Weak transcription	Fetal Thymus	thymus
14	chr14:56765000-56772800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr14:56765200-56774800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr14:56765200-56776600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr14:56766000-56771000	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr14:56766400-56776800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr14:56767600-56777200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr14:56767800-56777200	Weak transcription	NH-A	brain
21	chr14:56768600-56784600	Weak transcription	Dnd41	blood
22	chr14:56768800-56771400	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr14:56769000-56771200	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr14:56769200-56771600	Weak transcription	Fetal Intestine Small	intestine
25	chr14:56769800-56771200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr14:56769800-56776000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr14:56769800-56780200	Weak transcription	Primary B cells from cord blood	blood
28	chr14:56770800-56771200	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr14:56770800-56771600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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