Variant report

Variant	rs2207130
Chromosome Location	chr20:11423195-11423196
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2207114	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs2207908	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2224183	0.93[EUR][1000 genomes]
rs2423550	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2423551	0.83[EUR][1000 genomes]
rs2423553	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2423555	0.93[EUR][1000 genomes]
rs2423558	0.93[EUR][1000 genomes]
rs2423559	1.00[AFR][1000 genomes]
rs2423567	0.94[CEU][hapmap]
rs6033152	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs6040686	0.87[EUR][1000 genomes]
rs6040711	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs6040712	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs6078181	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs969293	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs973291	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065969	chr20:10850562-11464172	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv544181	chr20:10850562-11464172	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv432099	chr20:11371093-11476900	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1058734	chr20:11389232-11479953	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv522929	chr20:11411026-11516418	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:11416000-11423800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr20:11417000-11426400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr20:11417000-11432200	Weak transcription	A549	lung
4	chr20:11419200-11423600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr20:11419400-11424600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr20:11421200-11428000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr20:11421400-11423600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr20:11421400-11423600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr20:11421600-11425800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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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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