Variant report

Variant	rs17112208
Chromosome Location	chr10:98665466-98665467
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11814029	0.97[AFR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11815437	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11819015	0.96[EUR][1000 genomes]
rs12571254	0.82[CEU][hapmap]
rs17112206	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17112234	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17112250	0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17112311	0.82[CEU][hapmap]
rs2183447	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3829856	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57437078	0.98[EUR][1000 genomes]
rs57625543	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57868471	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58550844	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72819843	0.97[AFR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72819851	0.94[AFR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72819853	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72819857	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72819858	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7895214	0.92[CHB][hapmap];0.95[CHD][hapmap]
rs7899594	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7911787	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7922565	0.95[AFR][1000 genomes];0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532232	chr10:98360775-99141797	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17112208	EYA2	trans	lymphoblastoid	seeQTL

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:98611000-98713000	Weak transcription	Aorta	Aorta
2	chr10:98624800-98696000	Weak transcription	K562	blood
3	chr10:98633600-98670000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr10:98636800-98683400	Weak transcription	Osteobl	bone
5	chr10:98637400-98708800	Weak transcription	NH-A	brain
6	chr10:98639800-98714600	Weak transcription	Esophagus	oesophagus
7	chr10:98640600-98666800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr10:98640600-98714600	Weak transcription	Hela-S3	cervix
9	chr10:98644800-98669800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr10:98644800-98674600	Weak transcription	Spleen	Spleen
11	chr10:98644800-98681400	Weak transcription	Right Ventricle	heart
12	chr10:98645400-98678000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr10:98649400-98672200	Weak transcription	HSMM	muscle
14	chr10:98650200-98673400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr10:98650200-98674600	Weak transcription	Thymus	Thymus
16	chr10:98650200-98708800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr10:98650600-98667400	Weak transcription	HMEC	breast
18	chr10:98651800-98667800	Weak transcription	Fetal Stomach	stomach
19	chr10:98652000-98673600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr10:98652400-98672200	Weak transcription	Fetal Thymus	thymus
21	chr10:98652600-98667600	Weak transcription	Dnd41	blood
22	chr10:98652600-98669000	Weak transcription	Primary B cells from cord blood	blood
23	chr10:98652600-98671200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr10:98652600-98673600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr10:98652600-98674800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr10:98652800-98667600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr10:98652800-98667600	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr10:98653000-98666800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr10:98653000-98667600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr10:98653200-98665600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr10:98653400-98675200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr10:98653400-98714200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr10:98653800-98665600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr10:98654200-98666000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr10:98654200-98667400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr10:98654200-98675400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr10:98655800-98667800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr10:98656000-98675400	Weak transcription	Pancreas	Pancrea
39	chr10:98657200-98672600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr10:98657400-98673200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr10:98657400-98705800	Weak transcription	NHDF-Ad	bronchial
42	chr10:98658400-98668800	Weak transcription	Primary B cells from peripheral blood	blood
43	chr10:98659000-98672400	Weak transcription	Primary T cells from cord blood	blood
44	chr10:98659000-98714600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr10:98661600-98665800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr10:98661600-98666600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr10:98661600-98669000	Weak transcription	Fetal Lung	lung
48	chr10:98661600-98675400	Weak transcription	Fetal Muscle Leg	muscle
49	chr10:98661800-98667400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr10:98661800-98667800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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