Variant report

Variant	rs12589043
Chromosome Location	chr14:42069215-42069216
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs1111177	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1111179	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1137567	0.84[EUR][1000 genomes]
rs12431444	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1609735	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17781288	0.82[EUR][1000 genomes]
rs1950831	0.80[EUR][1000 genomes]
rs1950834	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1950835	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1950836	0.85[ASN][1000 genomes]
rs1950838	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28755010	0.81[ASN][1000 genomes]
rs4356390	0.82[EUR][1000 genomes]
rs61990286	0.82[EUR][1000 genomes]
rs61990288	0.82[EUR][1000 genomes]
rs61990289	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6572099	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7148091	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8003822	0.81[AMR][1000 genomes]
rs8007172	0.85[ASN][1000 genomes]
rs8013655	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[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	nsv1047300	chr14:41671653-42361098	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv1831164	chr14:41673017-42103168	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv533968	chr14:41882101-42327882	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1042078	chr14:41993985-42120143	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv2758353	chr14:42045873-42259511	Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv2759983	chr14:42045873-42259511	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:42067000-42074000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:42067200-42073400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:42067200-42073800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:42067400-42073600	Weak transcription	Placenta	Placenta
5	chr14:42067600-42069400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr14:42067800-42069400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr14:42068400-42069800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr14:42068400-42071400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr14:42068600-42069600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr14:42068600-42069600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr14:42068600-42069600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr14:42068800-42069400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr14:42068800-42069400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr14:42068800-42069400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr14:42069200-42069400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr14:42069200-42069400	Enhancers	Fetal Muscle Leg	muscle
17	chr14:42069200-42069600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:42069200-42069800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr14:42069200-42070200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr14:42069200-42070600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links