Variant report

Variant	rs6605225
Chromosome Location	chr1:104944640-104944641
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12076176	0.92[ASN][1000 genomes]
rs12735427	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12753102	0.83[EUR][1000 genomes]
rs12753103	0.84[EUR][1000 genomes]
rs12759315	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12760292	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17021474	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34330819	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34442465	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34817060	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35040631	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35429360	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6605224	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6605226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7413869	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7538850	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9659643	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872072	chr1:104470622-105076810	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1010903	chr1:104483363-105468941	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv2762170	chr1:104817700-105411596	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv872076	chr1:104871518-104952299	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
5	nsv547212	chr1:104890086-104946284	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
6	nsv872077	chr1:104890559-104952299	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
7	nsv547213	chr1:104890559-104954365	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
8	nsv872078	chr1:104890559-104997471	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
9	nsv547214	chr1:104893852-104946284	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
10	nsv872079	chr1:104893852-104980964	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
11	nsv872080	chr1:104893852-104985647	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
12	nsv462851	chr1:104897848-104987416	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
13	nsv547215	chr1:104897848-104987416	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
14	nsv547216	chr1:104911326-104980964	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:104941000-104948800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:104943400-104944800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:104943800-104945400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:104944400-104945200	Enhancers	Brain Germinal Matrix	brain

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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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