Variant report

Variant	rs10817755
Chromosome Location	chr9:118130427-118130428
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:118122157..118124245-chr9:118129075..118130957,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10117971	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1335141	0.87[CHB][hapmap];0.90[JPT][hapmap];0.80[YRI][hapmap]
rs2188040	0.95[AFR][1000 genomes]
rs2188041	0.95[AFR][1000 genomes]
rs2213914	0.90[AFR][1000 genomes]
rs2269700	0.87[CHB][hapmap];0.90[JPT][hapmap];0.81[LWK][hapmap];0.80[YRI][hapmap]
rs4481680	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6478159	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6478160	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7048282	0.95[AFR][1000 genomes]
rs7048430	0.90[AFR][1000 genomes]
rs7469226	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7850103	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.82[JPT][hapmap];0.88[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs916553	0.87[CHB][hapmap];0.90[JPT][hapmap];0.81[LWK][hapmap];0.80[YRI][hapmap]
rs9409143	0.93[ASW][hapmap];0.82[CEU][hapmap];0.94[LWK][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs9409144	0.93[ASW][hapmap];0.82[CEU][hapmap];0.94[LWK][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs9409145	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9409146	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs972451	0.95[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv948346	chr9:118107565-118718197	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv2761552	chr9:118113846-118157488	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10817755	SLC31A1	cis	cerebellum	SCAN
rs10817755	DNAJC25	cis	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:118119600-118135800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr9:118122600-118130800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr9:118124800-118131200	Weak transcription	Fetal Lung	lung
4	chr9:118125400-118131400	Weak transcription	Fetal Kidney	kidney
5	chr9:118125600-118131200	Weak transcription	Fetal Stomach	stomach
6	chr9:118128600-118132200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr9:118128800-118130800	Enhancers	NH-A	brain
8	chr9:118128800-118131600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr9:118129200-118131800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr9:118129400-118130600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr9:118129400-118132200	Enhancers	Osteobl	bone
12	chr9:118129600-118131600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr9:118129800-118130800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr9:118129800-118131000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr9:118129800-118131200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr9:118129800-118132200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr9:118129800-118132200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr9:118129800-118132400	Enhancers	NHLF	lung
19	chr9:118129800-118133200	Enhancers	NHDF-Ad	bronchial
20	chr9:118130000-118135200	Weak transcription	Stomach Mucosa	stomach
21	chr9:118130400-118130600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr9:118130400-118130800	Flanking Active TSS	A549	lung
23	chr9:118130400-118131200	Enhancers	HSMM	muscle
24	chr9:118130400-118131400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr9:118130400-118132200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr9:118130400-118132200	Enhancers	HMEC	breast

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