Variant report

Variant	rs1324093
Chromosome Location	chr6:121857609-121857610
allele	A/C
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]
rs10457420	1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12209355	1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs17083751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2031300	0.97[ASN][1000 genomes]
rs2071166	1.00[MKK][hapmap]
rs56887955	1.00[AMR][1000 genomes]
rs62427968	1.00[AMR][1000 genomes]
rs62429983	1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs62429984	0.91[ASN][1000 genomes]
rs62429985	0.98[ASN][1000 genomes]
rs62429988	1.00[AMR][1000 genomes]
rs62429991	1.00[AMR][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	nsv886594	chr6:121837314-122043117	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv1847344	chr6:121845356-121875648	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv1844166	chr6:121845356-121880939	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv528731	chr6:121857609-121875648	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121854800-121860800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr6:121854800-121867000	Weak transcription	NHEK	skin
3	chr6:121855000-121870800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:121855200-121866000	Weak transcription	HMEC	breast
5	chr6:121855800-121860400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr6:121857000-121857800	Enhancers	H9 Cell Line	embryonic stem cell
7	chr6:121857200-121857800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:121857400-121858000	Enhancers	Fetal Heart	heart

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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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