Variant report

Variant	rs4143443
Chromosome Location	chr12:42013482-42013483
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10506203	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11615358	0.85[ASN][1000 genomes]
rs12228649	0.80[ASN][1000 genomes]
rs17121165	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7978317	0.82[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	esv3337301	chr12:41851654-42093677	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv899040	chr12:41905897-42181706	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv899041	chr12:42005690-42072514	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42013200-42013600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:42013200-42013800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:42013200-42014600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr12:42013200-42014800	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr12:42013200-42015200	Enhancers	Brain Germinal Matrix	brain
6	chr12:42013200-42015400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr12:42013200-42016400	Enhancers	Fetal Intestine Small	intestine
8	chr12:42013400-42013800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr12:42013400-42013800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:42013400-42013800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:42013400-42014000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr12:42013400-42015200	Enhancers	H9 Derived Neuronal Progenitor 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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