Variant report

Variant	rs17811225
Chromosome Location	chr9:16526653-16526654
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	chr9:16519927..16521803-chr9:16525394..16528325,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10756760	0.80[CEU][hapmap]
rs12115663	0.94[CEU][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1927631	0.84[CEU][hapmap]
rs34821834	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67498978	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67602727	0.96[AMR][1000 genomes];0.88[EUR][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	nsv530933	chr9:16251206-16830845	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv530934	chr9:16281246-16779432	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1032856	chr9:16465330-16773471	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv540073	chr9:16465330-16773471	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1028923	chr9:16519711-16547863	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17811225	SLC24A2	cis	parietal	SCAN
rs17811225	TTC39B	cis	parietal	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16515600-16532600	Weak transcription	Aorta	Aorta
2	chr9:16517200-16526800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:16520200-16535400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr9:16522600-16530600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr9:16522600-16530800	Weak transcription	Psoas Muscle	Psoas
6	chr9:16522800-16530800	Weak transcription	Ovary	ovary
7	chr9:16522800-16531800	Weak transcription	Fetal Kidney	kidney
8	chr9:16522800-16540800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr9:16523000-16527400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr9:16523000-16530000	Weak transcription	Colon Smooth Muscle	Colon
11	chr9:16523000-16530200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr9:16523000-16530600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr9:16523000-16535400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr9:16523200-16526800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr9:16523200-16530400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr9:16523200-16530400	Weak transcription	Fetal Stomach	stomach
17	chr9:16523200-16530600	Weak transcription	HSMM	muscle
18	chr9:16523200-16530800	Weak transcription	Small Intestine	intestine
19	chr9:16523200-16530800	Weak transcription	NHLF	lung
20	chr9:16523200-16532200	Weak transcription	NHDF-Ad	bronchial
21	chr9:16524200-16527800	Enhancers	HUVEC	blood vessel
22	chr9:16524600-16526800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr9:16525000-16527000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr9:16525000-16527800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr9:16525000-16551400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr9:16525200-16527000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr9:16525400-16531200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr9:16525800-16526800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr9:16525800-16527000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr9:16525800-16527200	Weak transcription	Fetal Lung	lung
31	chr9:16525800-16531400	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr9:16525800-16532800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr9:16526000-16527000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr9:16526000-16527200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr9:16526000-16527400	Enhancers	NH-A	brain
36	chr9:16526200-16527000	Enhancers	Muscle Satellite Cultured Cells	--
37	chr9:16526200-16527000	Enhancers	Osteobl	bone
38	chr9:16526200-16527200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr9:16526200-16527200	Enhancers	NHEK	skin
40	chr9:16526200-16527400	Enhancers	HMEC	breast
41	chr9:16526400-16527000	Enhancers	A549	lung
42	chr9:16526600-16527000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr9:16526600-16527200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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