Variant report

Variant	rs7142872
Chromosome Location	chr14:56218831-56218832
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	chr14:56215726..56218304-chr14:56218749..56222273,3	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs34059199	0.80[ASN][1000 genomes]
rs71412696	0.80[AMR][1000 genomes]
rs7494275	1.00[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832804	chr14:56083850-56277632	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv901966	chr14:56160904-56436203	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv901967	chr14:56183127-56252062	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv901968	chr14:56183127-56256651	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv901969	chr14:56183127-56258997	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv901970	chr14:56183127-56265176	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv901971	chr14:56183127-56265176	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv901972	chr14:56185501-56256651	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv901973	chr14:56185908-56252062	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv901974	chr14:56192577-56252062	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv901975	chr14:56192577-56260033	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv901976	chr14:56192577-56265176	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv901977	chr14:56213392-56492996	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7142872	KTN1	cis	multi-tissue	Pritchard

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56198600-56219400	Weak transcription	Gastric	stomach
2	chr14:56208000-56221400	Weak transcription	Aorta	Aorta
3	chr14:56211200-56219000	Enhancers	Fetal Thymus	thymus
4	chr14:56211400-56220600	Enhancers	Thymus	Thymus
5	chr14:56214000-56219200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr14:56214800-56220200	Weak transcription	Esophagus	oesophagus
7	chr14:56215000-56220000	Weak transcription	Fetal Intestine Small	intestine
8	chr14:56216000-56219000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:56216400-56219000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr14:56216400-56219000	Weak transcription	Stomach Mucosa	stomach
11	chr14:56216400-56219400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:56216400-56219400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:56216400-56219600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr14:56216600-56219000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr14:56216600-56219400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr14:56216600-56219400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr14:56216600-56219400	Weak transcription	Fetal Intestine Large	intestine
18	chr14:56216600-56219400	Weak transcription	NHEK	skin
19	chr14:56217000-56219200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr14:56217000-56219200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr14:56217000-56219200	Weak transcription	Pancreas	Pancrea
22	chr14:56217000-56219600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr14:56217000-56219600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr14:56217200-56219000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr14:56217800-56219200	Weak transcription	Dnd41	blood
26	chr14:56218600-56219200	Enhancers	A549	lung
27	chr14:56218800-56219400	Enhancers	Hela-S3	cervix
28	chr14:56218800-56219800	Enhancers	H9 Cell Line	embryonic stem cell
29	chr14:56218800-56220000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:56218800-56220200	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr14:56218800-56220200	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr14:56218800-56220200	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr14:56218800-56220200	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr14:56218800-56220200	Enhancers	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links