Variant report

Variant	rs1389441
Chromosome Location	chr4:76250849-76250850
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1000570	0.94[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs11099516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11099531	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs1155690	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12510177	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13106563	0.88[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs13107052	0.88[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs13120698	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs13128452	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs17270628	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1986574	0.92[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2047096	0.88[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs34681902	0.88[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4859956	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4859957	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7680886	0.95[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MKK][hapmap];0.84[TSI][hapmap]
rs868694	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs868695	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs999219	0.88[AFR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010552	chr4:76064415-76325430	Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv594687	chr4:76154064-76502748	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv998511	chr4:76184807-76398377	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv2763368	chr4:76190070-76387413	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv461557	chr4:76212995-76363477	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv594688	chr4:76212995-76363477	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv534570	chr4:76214619-76498362	ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS 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 miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76249000-76251400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:76249600-76254400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:76249600-76255000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:76250000-76251200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr4:76250200-76251000	Enhancers	Aorta	Aorta
6	chr4:76250200-76251200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr4:76250200-76251400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr4:76250400-76251200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr4:76250400-76251200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr4:76250400-76251600	Weak transcription	Right Atrium	heart
11	chr4:76250400-76252000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr4:76250600-76251000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr4:76250600-76251400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr4:76250800-76251000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:76250800-76251000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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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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