Variant report

Variant	rs17246222
Chromosome Location	chr9:117994130-117994131
allele	A/C
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:26)

rs_ID	r²[population]
rs10817729	0.90[CEU][hapmap]
rs10982578	1.00[ASN][1000 genomes]
rs10982623	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10982628	0.80[CEU][hapmap];1.00[AFR][1000 genomes]
rs10982629	0.90[CEU][hapmap];1.00[AFR][1000 genomes]
rs10982630	0.82[CEU][hapmap];1.00[AFR][1000 genomes]
rs10982634	0.90[CEU][hapmap];1.00[AFR][1000 genomes]
rs10982639	0.82[CEU][hapmap];1.00[AFR][1000 genomes]
rs10982642	1.00[AFR][1000 genomes]
rs10982660	1.00[AFR][1000 genomes]
rs12376346	0.90[CEU][hapmap];1.00[AFR][1000 genomes]
rs12377961	0.82[CEU][hapmap];1.00[AFR][1000 genomes]
rs12378362	0.90[CEU][hapmap];1.00[AFR][1000 genomes]
rs12378930	1.00[CHB][hapmap]
rs12380804	1.00[ASN][1000 genomes]
rs13288003	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs13296278	1.00[ASN][1000 genomes]
rs13301328	0.82[CEU][hapmap];1.00[AFR][1000 genomes]
rs1557603	0.82[CEU][hapmap];1.00[AFR][1000 genomes]
rs28681459	1.00[ASN][1000 genomes]
rs41307469	1.00[ASN][1000 genomes]
rs4344149	1.00[CHB][hapmap]
rs7044600	0.82[CEU][hapmap];1.00[AFR][1000 genomes]
rs71505534	1.00[AFR][1000 genomes]
rs7869917	0.82[CEU][hapmap];1.00[AFR][1000 genomes]
rs955387	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv615251	chr9:117975864-118514444	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription 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	11 gene(s)	inside rSNPs	diseases
5	nsv6682	chr9:117984059-118000427	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117985000-118000600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:117988800-117997600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr9:117992000-117995200	Weak transcription	NHEK	skin
4	chr9:117993200-117994200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr9:117993600-117995400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr9:117993800-117995400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr9:117994000-117994600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr9:117994000-117995400	Weak transcription	Esophagus	oesophagus
9	chr9:117994000-117996200	Weak transcription	HSMMtube	muscle
10	chr9:117994000-117996600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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