Variant report

Variant	rs12685855
Chromosome Location	chr9:117914221-117914222
allele	A/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:19)

rs_ID	r²[population]
rs10122596	1.00[EUR][1000 genomes]
rs10465110	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs10817717	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs12343517	0.86[JPT][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12683537	1.00[ASW][hapmap];0.95[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1335346	0.86[JPT][hapmap];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3748164	0.96[ASN][1000 genomes]
rs3748165	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3827816	0.85[CHB][hapmap]
rs56883831	0.98[ASN][1000 genomes]
rs57178492	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57245991	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57262272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57654109	0.95[AFR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59797450	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6478135	0.86[JPT][hapmap]
rs6478143	0.86[JPT][hapmap]
rs7031771	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs7866441	0.86[JPT][hapmap]

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	nsv615250	chr9:117768021-118012841	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv916912	chr9:117770039-118014140	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv831697	chr9:117860416-118023927	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv6681	chr9:117893926-117938609	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117910000-117918800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr9:117910000-117918800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr9:117910400-117918800	Weak transcription	NHLF	lung
4	chr9:117911800-117917400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr9:117912000-117917200	Weak transcription	Colon Smooth Muscle	Colon
6	chr9:117912200-117917200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr9:117912800-117915600	Enhancers	Fetal Intestine Small	intestine
8	chr9:117913200-117914400	Enhancers	Fetal Intestine Large	intestine
9	chr9:117913800-117918800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr9:117914200-117914400	Active TSS	Rectal Smooth Muscle	rectum

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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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