Variant report

Variant	rs2327378
Chromosome Location	chr20:11317559-11317560
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs13036847	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2024623	0.95[AFR][1000 genomes]
rs2092644	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2143873	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4514945	0.88[EUR][1000 genomes]
rs6040551	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6108913	0.95[AFR][1000 genomes]
rs6108937	0.86[EUR][1000 genomes]
rs761477	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs982210	0.81[AFR][1000 genomes]
rs989854	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv585415	chr20:11134907-11383327	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:11312000-11323200	Weak transcription	Psoas Muscle	Psoas
2	chr20:11314000-11323000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr20:11315400-11318000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr20:11315600-11318000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr20:11315600-11318200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr20:11315800-11317600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr20:11315800-11317800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr20:11315800-11317800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr20:11315800-11317800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr20:11315800-11319200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr20:11316000-11317600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr20:11316200-11318600	Weak transcription	Fetal Intestine Large	intestine
13	chr20:11316800-11318000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr20:11317000-11318000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr20:11317200-11318200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr20:11317200-11319200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr20:11317400-11319400	Enhancers	HUES64 Cell Line	embryonic stem cell

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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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