Variant report

Variant	rs995447
Chromosome Location	chr4:62818468-62818469
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10517550	0.94[ASN][1000 genomes]
rs12649738	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1376311	0.81[CHB][hapmap];1.00[MEX][hapmap]
rs1397547	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1450894	0.89[ASN][1000 genomes]
rs17226314	0.81[CHB][hapmap];1.00[MEX][hapmap]
rs17226342	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17292121	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2017522	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28490110	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4860105	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4860446	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7437338	0.90[CHB][hapmap];1.00[MEX][hapmap]
rs7672853	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs970358	0.87[ASN][1000 genomes]
rs989294	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs989295	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv461377	chr4:62368762-62883431	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv594328	chr4:62368762-62883431	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv428760	chr4:62649399-62824542	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:62786600-62822200	Weak transcription	Brain Angular Gyrus	brain
2	chr4:62789200-62821600	Weak transcription	Fetal Lung	lung
3	chr4:62800000-62818600	Weak transcription	Brain Hippocampus Middle	brain
4	chr4:62802000-62852000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr4:62804600-62819000	Weak transcription	Fetal Stomach	stomach
6	chr4:62804600-62845200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr4:62814600-62821400	Weak transcription	Fetal Muscle Leg	muscle
8	chr4:62816200-62823600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:62816400-62824000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr4:62816600-62823600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr4:62816600-62823600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr4:62816800-62825800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:62817200-62823800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

Quick Search:

Input of quick search could be:

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

what's new

Quick links