Variant report

Variant	rs4479030
Chromosome Location	chr12:39634530-39634531
allele	A/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:12)

rs_ID	r²[population]
rs10506137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17120051	1.00[EUR][1000 genomes]
rs17126955	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17126959	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17126974	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17126978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17126995	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17127059	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17127072	1.00[EUR][1000 genomes]
rs56352410	1.00[EUR][1000 genomes]
rs73264529	1.00[EUR][1000 genomes]
rs73264532	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899013	chr12:39567945-39732430	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv832375	chr12:39599362-39784722	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	esv2753350	chr12:39617233-39669533	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv832376	chr12:39633080-39808277	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 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	chr12:39629600-39635000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:39632600-39634800	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr12:39632600-39635000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:39633400-39634600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr12:39633400-39634800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:39633800-39634600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:39633800-39634800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr12:39633800-39635000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:39634000-39634600	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr12:39634000-39634800	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr12:39634200-39634600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:39634200-39635400	Weak transcription	Fetal Intestine Large	intestine
13	chr12:39634400-39634800	Enhancers	HUES48 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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