Variant report

Variant	rs17126713
Chromosome Location	chr12:39219018-39219019
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10876062	0.87[CEU][hapmap];0.95[EUR][1000 genomes]
rs10876185	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1095571	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11837377	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12422883	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12424244	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12424853	0.85[EUR][1000 genomes]
rs12425783	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12427196	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12578804	0.84[JPT][hapmap];0.87[YRI][hapmap]
rs12580606	0.88[YRI][hapmap]
rs12580722	0.85[EUR][1000 genomes]
rs17126226	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs1878223	0.80[EUR][1000 genomes]
rs1878224	0.80[EUR][1000 genomes]
rs56989350	0.93[ASN][1000 genomes]
rs57950648	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58235891	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59843534	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60409162	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60863548	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61636003	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7138835	0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7297083	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs7307936	0.85[EUR][1000 genomes]
rs73084040	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73084043	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73084050	0.97[ASN][1000 genomes]
rs73084066	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73084068	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7308580	0.83[EUR][1000 genomes]
rs73089536	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73089563	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73089574	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7309194	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7315047	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7954044	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7968397	0.80[EUR][1000 genomes]
rs7971601	0.80[EUR][1000 genomes]
rs7974510	0.80[EUR][1000 genomes]
rs826836	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs826837	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs826842	0.80[JPT][hapmap]
rs851931	1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs9943730	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[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	nsv1047623	chr12:39187817-39539939	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39203200-39220200	Weak transcription	Psoas Muscle	Psoas
2	chr12:39203200-39276000	Weak transcription	Aorta	Aorta
3	chr12:39204000-39284800	Weak transcription	Lung	lung
4	chr12:39204800-39228800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:39204800-39231800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr12:39205600-39223200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:39205600-39229400	Weak transcription	HMEC	breast
8	chr12:39206400-39225800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:39206600-39220000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:39206600-39243800	Weak transcription	Left Ventricle	heart
11	chr12:39206600-39249200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr12:39206800-39221400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr12:39206800-39226200	Weak transcription	GM12878-XiMat	blood
14	chr12:39206800-39241400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr12:39206800-39241400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:39213600-39219400	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr12:39215600-39221000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:39216000-39237400	Weak transcription	Hela-S3	cervix
19	chr12:39217600-39232800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr12:39217800-39221400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr12:39218200-39223200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:39218400-39219400	Strong transcription	Liver	Liver
23	chr12:39218600-39219200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:39218600-39219400	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr12:39218600-39219600	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr12:39219000-39219200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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