Variant report

Variant	rs1188181
Chromosome Location	chr14:56444909-56444910
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1188175	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1188176	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1188179	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1188180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1188198	0.80[ASN][1000 genomes]
rs1188199	0.80[ASN][1000 genomes]
rs1188200	0.80[ASN][1000 genomes]
rs1188203	0.91[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs1188204	0.82[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs1188206	0.94[ASN][1000 genomes]
rs1201387	0.80[ASN][1000 genomes]
rs1203011	0.94[ASN][1000 genomes]
rs1211177	0.80[ASN][1000 genomes]
rs1212974	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv34106	chr14:56346245-56550642	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56439200-56451200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:56440000-56446200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr14:56440000-56446400	Enhancers	Brain Germinal Matrix	brain
4	chr14:56441200-56445600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:56441600-56445800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:56442400-56445200	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr14:56442800-56446600	Enhancers	Brain Substantia Nigra	brain
8	chr14:56443000-56446400	Enhancers	Brain Cingulate Gyrus	brain
9	chr14:56443400-56445200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr14:56443600-56445000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr14:56443600-56445000	Enhancers	Fetal Brain Female	brain
12	chr14:56443600-56446200	Enhancers	Brain Anterior Caudate	brain
13	chr14:56443600-56446400	Enhancers	Brain Hippocampus Middle	brain
14	chr14:56443600-56446600	Enhancers	Brain Angular Gyrus	brain
15	chr14:56444400-56445200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr14:56444600-56445600	Weak transcription	Colon Smooth Muscle	Colon
17	chr14:56444800-56445000	Enhancers	Pancreas	Pancrea
18	chr14:56444800-56449200	Weak transcription	Ovary	ovary

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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