Variant report

Variant	rs2181741
Chromosome Location	chr14:55982363-55982364
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1188069	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1188071	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1188072	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1188073	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1188075	0.96[ASN][1000 genomes]
rs1188076	0.96[ASN][1000 genomes]
rs1188078	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1188080	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12587428	0.85[EUR][1000 genomes]
rs12880763	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1307315	0.80[AFR][1000 genomes]
rs1307317	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs1307318	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1957877	0.87[EUR][1000 genomes]
rs34670213	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57797969	0.88[EUR][1000 genomes]
rs7150431	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901958	chr14:55822095-56045411	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv901960	chr14:55853724-56085130	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv901961	chr14:55853724-56101879	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv901962	chr14:55862956-56101879	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv901963	chr14:55871452-56085130	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv901964	chr14:55871452-56101879	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
7	nsv564874	chr14:55879685-56027815	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv1051564	chr14:55895610-56130788	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv542103	chr14:55895610-56130788	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
10	nsv1047054	chr14:55922287-56035579	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv1037161	chr14:55928030-56039353	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv901965	chr14:55976428-56101879	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55979000-55983200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr14:55979400-55983600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:55979400-55985200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:55981000-55982600	Enhancers	NHEK	skin
5	chr14:55981200-55982600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr14:55981200-55982600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:55981200-55983000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr14:55981600-55982400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr14:55981600-55982400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:55981600-55982400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr14:55981800-55982400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:55981800-55982400	Enhancers	Adipose Nuclei	Adipose
13	chr14:55981800-55982400	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr14:55981800-55982800	Enhancers	Fetal Muscle Leg	muscle
15	chr14:55982000-55982400	Enhancers	Fetal Muscle Trunk	muscle
16	chr14:55982000-55982600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr14:55982000-55982600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr14:55982000-55982600	Enhancers	NHDF-Ad	bronchial
19	chr14:55982000-55984600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr14:55982000-55986000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr14:55982200-55982400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr14:55982200-55982400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr14:55982200-55982600	Enhancers	Fetal Stomach	stomach
24	chr14:55982200-55982600	Enhancers	NH-A	brain
25	chr14:55982200-55983000	Enhancers	HUVEC	blood vessel
26	chr14:55982200-55985800	Weak transcription	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links