Variant report

Variant	rs17739113
Chromosome Location	chr8:9935949-9935950
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10087802	1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs10088663	0.84[ASN][1000 genomes]
rs10088890	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs10090114	1.00[CHB][hapmap];0.82[YRI][hapmap];0.84[ASN][1000 genomes]
rs10098342	1.00[CEU][hapmap]
rs10100022	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs10216752	0.89[CEU][hapmap]
rs1023961	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs11775290	0.89[CEU][hapmap];0.89[JPT][hapmap]
rs11786253	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11984513	1.00[CHB][hapmap];0.84[YRI][hapmap];0.84[ASN][1000 genomes]
rs11990555	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs1484642	0.90[ASW][hapmap];0.92[YRI][hapmap]
rs1521190	0.90[ASN][1000 genomes]
rs17151071	1.00[CEU][hapmap]
rs17151244	1.00[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs17738724	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17739179	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2220149	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs2220150	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs2628140	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2661755	0.90[ASN][1000 genomes]
rs472514	0.89[CEU][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4841281	1.00[CHB][hapmap];0.86[YRI][hapmap];0.83[ASN][1000 genomes]
rs4841284	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs4841285	0.84[ASN][1000 genomes]
rs534667	0.85[ASN][1000 genomes]
rs569446	0.90[ASN][1000 genomes]
rs59759359	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60465334	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs658385	0.85[ASN][1000 genomes]
rs685353	0.85[ASN][1000 genomes]
rs728878	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7812741	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7823314	1.00[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs7823714	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs7832670	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs7843443	0.84[JPT][hapmap]
rs814405	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs923046	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs9329213	1.00[CEU][hapmap]
rs9329216	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs956824	1.00[CEU][hapmap];0.89[JPT][hapmap]
rs963592	1.00[CHB][hapmap];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	nsv916493	chr8:9806580-10029482	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv869934	chr8:9806639-9940586	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1018236	chr8:9915428-9940481	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17739113	MEA1	trans	parietal	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9913200-9944800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:9913600-9938600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr8:9914800-9947200	Weak transcription	Left Ventricle	heart
4	chr8:9920200-9938400	Weak transcription	Spleen	Spleen
5	chr8:9926400-9940400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr8:9929600-9947200	Weak transcription	Aorta	Aorta
7	chr8:9930200-9937200	Weak transcription	Primary B cells from cord blood	blood
8	chr8:9931200-9939600	Weak transcription	Primary T cells from cord blood	blood
9	chr8:9931200-9940200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr8:9932200-9939000	Weak transcription	Fetal Intestine Small	intestine
11	chr8:9933400-9937000	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr8:9934000-9939800	Weak transcription	Gastric	stomach
13	chr8:9934000-9940200	Weak transcription	Pancreas	Pancrea
14	chr8:9934400-9939800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:9935800-9936000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:9935800-9936000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:9935800-9936200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:9935800-9936200	Enhancers	Ovary	ovary
19	chr8:9935800-9936600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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