Variant report

Variant	rs9394514
Chromosome Location	chr6:38511513-38511514
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10947742	0.88[ASN][1000 genomes]
rs10947743	0.83[ASN][1000 genomes]
rs10947753	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16890743	0.83[EUR][1000 genomes]
rs2748156	0.81[ASN][1000 genomes]
rs2748161	0.82[ASN][1000 genomes]
rs2814882	0.80[ASN][1000 genomes]
rs4141854	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4236061	0.82[ASN][1000 genomes]
rs4631264	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4711552	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4711553	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4711554	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4711555	1.00[EUR][1000 genomes]
rs4714166	0.83[EUR][1000 genomes]
rs4714171	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4714173	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4714174	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs58362455	0.83[EUR][1000 genomes]
rs58648636	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59793635	0.83[EUR][1000 genomes]
rs6900106	0.88[ASN][1000 genomes]
rs6905545	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6910904	0.86[AFR][1000 genomes]
rs6924443	0.82[ASN][1000 genomes]
rs6925790	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6931745	0.83[EUR][1000 genomes]
rs6938737	0.88[ASN][1000 genomes]
rs724242	0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7750482	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7750997	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7752972	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7753374	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7761154	0.82[ASN][1000 genomes]
rs7767791	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7775968	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9296252	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs9296254	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9296255	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9349092	0.87[AMR][1000 genomes]
rs9349093	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9349094	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9357277	0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs9366965	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9366969	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9369065	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9369069	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9369073	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9380757	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9380759	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9380760	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9380762	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9380763	0.83[EUR][1000 genomes]
rs9394513	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9394515	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9394516	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9394519	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9462439	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9462441	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9462442	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9462446	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9470901	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9470902	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9470906	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9470908	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9470913	0.83[EUR][1000 genomes]
rs9470916	0.83[EUR][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	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv534620	chr6:38049585-38602064	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38487000-38518600	Weak transcription	Primary T cells from cord blood	blood
2	chr6:38494400-38513800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr6:38494400-38515400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:38494400-38518800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr6:38494400-38524200	Weak transcription	Aorta	Aorta
6	chr6:38494800-38522600	Weak transcription	Ovary	ovary
7	chr6:38495000-38521800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr6:38496200-38517600	Weak transcription	Esophagus	oesophagus
9	chr6:38496600-38539600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr6:38496800-38521600	Weak transcription	Lung	lung
11	chr6:38497000-38517600	Weak transcription	Small Intestine	intestine
12	chr6:38497000-38538800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr6:38497000-38539400	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr6:38498400-38518400	Weak transcription	Primary B cells from cord blood	blood
15	chr6:38500600-38514800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr6:38500600-38517600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:38500600-38517600	Weak transcription	Right Ventricle	heart
18	chr6:38500600-38518600	Weak transcription	Left Ventricle	heart
19	chr6:38500800-38520800	Weak transcription	Fetal Intestine Small	intestine
20	chr6:38501400-38518600	Weak transcription	Primary B cells from peripheral blood	blood
21	chr6:38506800-38517000	Weak transcription	Brain Anterior Caudate	brain
22	chr6:38508200-38522200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr6:38510200-38522200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:38510400-38522600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:38510600-38546800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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