Variant report

Variant	rs17112234
Chromosome Location	chr10:98710889-98710890
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:98590745..98593944-chr10:98709452..98713107,4	MCF-7	breast:
2	chr10:98709061..98711545-chr10:98739248..98742131,2	MCF-7	breast:
3	chr10:98696795..98699148-chr10:98710595..98712314,2	K562	blood:

Variant related genes	Relation type
ENSG00000155640	Chromatin interaction
ENSG00000196233	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11814029	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11815437	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11819015	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12571254	0.82[CEU][hapmap]
rs17112206	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17112208	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	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17112311	0.82[CEU][hapmap]
rs2183447	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28523867	0.87[ASN][1000 genomes]
rs3829856	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4606419	0.86[ASN][1000 genomes]
rs57437078	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57625543	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57868471	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58550844	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72819843	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72819851	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72819853	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72819857	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72819858	1.00[EUR][1000 genomes];1.00[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];0.82[ASN][1000 genomes]
rs7911787	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.85[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7922565	0.84[ASN][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	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
2	nsv1052931	chr10:98676192-98862301	Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1042398	chr10:98691406-98851346	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17112234	EYA2	trans	lymphoblastoid	seeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:98611000-98713000	Weak transcription	Aorta	Aorta
2	chr10:98639800-98714600	Weak transcription	Esophagus	oesophagus
3	chr10:98640600-98714600	Weak transcription	Hela-S3	cervix
4	chr10:98653400-98714200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr10:98659000-98714600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr10:98663000-98720400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr10:98663600-98714800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr10:98664800-98714000	Weak transcription	Colonic Mucosa	Colon
9	chr10:98665000-98714800	Weak transcription	Colon Smooth Muscle	Colon
10	chr10:98666000-98714600	Weak transcription	Fetal Brain Female	brain
11	chr10:98669400-98714400	Weak transcription	HMEC	breast
12	chr10:98671200-98714600	Weak transcription	Ovary	ovary
13	chr10:98671200-98719800	Weak transcription	Fetal Brain Male	brain
14	chr10:98672400-98714600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr10:98675600-98714600	Weak transcription	Fetal Thymus	thymus
16	chr10:98675800-98714600	Weak transcription	Lung	lung
17	chr10:98675800-98714600	Weak transcription	Spleen	Spleen
18	chr10:98675800-98714800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr10:98677800-98711800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr10:98679800-98711600	Weak transcription	Placenta	Placenta
21	chr10:98679800-98724800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr10:98681600-98711800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr10:98683200-98714800	Weak transcription	HSMMtube	muscle
24	chr10:98683800-98714600	Weak transcription	Osteobl	bone
25	chr10:98684000-98714600	Weak transcription	HepG2	liver
26	chr10:98684200-98713000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr10:98686000-98714600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr10:98686200-98714800	Weak transcription	Brain Angular Gyrus	brain
29	chr10:98688600-98711800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr10:98689000-98714400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr10:98689200-98714800	Weak transcription	Brain Substantia Nigra	brain
32	chr10:98690600-98713200	Weak transcription	Gastric	stomach
33	chr10:98695400-98714600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr10:98695800-98714800	Weak transcription	Fetal Lung	lung
35	chr10:98696000-98711800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr10:98697200-98713800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr10:98697200-98714600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr10:98697200-98714600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr10:98697200-98714600	Weak transcription	Fetal Muscle Leg	muscle
40	chr10:98697200-98714600	Weak transcription	NHLF	lung
41	chr10:98697200-98715000	Weak transcription	Brain Germinal Matrix	brain
42	chr10:98697400-98711800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr10:98697600-98714800	Weak transcription	K562	blood
44	chr10:98697800-98711600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr10:98698000-98713000	Weak transcription	Left Ventricle	heart
46	chr10:98698200-98713000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr10:98698200-98713000	Weak transcription	Fetal Stomach	stomach
48	chr10:98698200-98713000	Weak transcription	Thymus	Thymus
49	chr10:98698400-98714800	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr10:98699000-98714800	Weak transcription	Fetal Kidney	kidney

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