Variant report

Variant	rs34507853
Chromosome Location	chr6:111512280-111512281
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10511671	0.80[ASN][1000 genomes]
rs10963906	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10963919	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10963920	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10963923	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10963929	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10963930	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12238548	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13284130	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13298563	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13302453	0.80[ASN][1000 genomes]
rs16937267	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1932451	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2291502	0.80[ASN][1000 genomes]
rs35804618	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3780221	0.80[ASN][1000 genomes]
rs7031392	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020627	chr6:111303742-111623714	Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1016334	chr6:111352181-111687521	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv604517	chr6:111352746-111580561	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv1847333	chr6:111471425-111744818	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv1032965	chr6:111490452-111710668	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1028349	chr6:111505975-111692801	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 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	chr6:111491800-111525400	Weak transcription	Psoas Muscle	Psoas
2	chr6:111496600-111522400	Weak transcription	Left Ventricle	heart
3	chr6:111501600-111521200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr6:111504400-111516000	Weak transcription	Gastric	stomach
5	chr6:111504600-111514000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:111506400-111518800	Weak transcription	Pancreas	Pancrea
7	chr6:111506600-111514800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr6:111509200-111514200	Weak transcription	Primary T cells from cord blood	blood
9	chr6:111510400-111512400	ZNF genes & repeats	Fetal Intestine Small	intestine
10	chr6:111511600-111515000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr6:111511600-111520200	Weak transcription	Liver	Liver
12	chr6:111512000-111512400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:111512000-111512400	ZNF genes & repeats	Placenta	Placenta
14	chr6:111512000-111515600	Weak transcription	Thymus	Thymus
15	chr6:111512200-111518200	Weak transcription	Fetal Thymus	thymus

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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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