Variant report

Variant	rs4841394
Chromosome Location	chr8:10456823-10456824
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10108562	1.00[ASN][1000 genomes]
rs11774008	1.00[ASN][1000 genomes]
rs11775794	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11776423	1.00[ASN][1000 genomes]
rs11776454	1.00[ASN][1000 genomes]
rs11777184	1.00[ASN][1000 genomes]
rs11778788	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11778815	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11779652	1.00[ASN][1000 genomes]
rs11780167	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11780436	0.81[CEU][hapmap];1.00[MEX][hapmap]
rs11780868	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781718	1.00[ASN][1000 genomes]
rs11783848	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11785876	1.00[ASN][1000 genomes]
rs11786322	0.84[EUR][1000 genomes]
rs11786688	1.00[ASN][1000 genomes]
rs11787384	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11787493	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11992557	0.84[EUR][1000 genomes]
rs13249905	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13259038	1.00[CHB][hapmap]
rs13269403	1.00[CHB][hapmap]
rs28361533	1.00[ASN][1000 genomes]
rs28577240	1.00[ASN][1000 genomes]
rs34994999	1.00[ASN][1000 genomes]
rs4320513	1.00[ASN][1000 genomes]
rs4591993	1.00[ASN][1000 genomes]
rs4840494	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4840495	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4840496	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841364	0.81[CEU][hapmap];1.00[MEX][hapmap]
rs4841367	0.81[CEU][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs4841379	1.00[ASN][1000 genomes]
rs4841390	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841391	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4841395	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841396	1.00[AMR][1000 genomes]
rs4841397	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841400	1.00[ASN][1000 genomes]
rs4841406	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs56096665	1.00[ASN][1000 genomes]
rs58842562	1.00[ASN][1000 genomes]
rs60930396	1.00[ASN][1000 genomes]
rs61743179	1.00[ASN][1000 genomes]
rs6601486	1.00[ASN][1000 genomes]
rs6981847	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs73662849	1.00[ASN][1000 genomes]
rs73662851	1.00[ASN][1000 genomes]
rs73662852	1.00[ASN][1000 genomes]
rs73662853	1.00[ASN][1000 genomes]
rs73662854	1.00[ASN][1000 genomes]
rs73662855	1.00[ASN][1000 genomes]
rs73662857	1.00[ASN][1000 genomes]
rs73662858	1.00[ASN][1000 genomes]
rs7846306	1.00[CHB][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1025557	chr8:10216726-10555187	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv610267	chr8:10268736-10526742	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv610268	chr8:10331636-10486652	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv1025251	chr8:10343591-10488557	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv1015932	chr8:10357101-10597856	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	nsv610269	chr8:10416017-10461484	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv610271	chr8:10438796-10459203	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv890351	chr8:10439902-10482372	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
13	nsv1031279	chr8:10448142-10501380	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
14	nsv1022682	chr8:10453091-10501380	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
15	nsv539467	chr8:10455842-10495689	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4841394	LOC158376	trans	lymphoblastoid	seeQTL
rs4841394	MGC14436	trans	lymphoblastoid	seeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10451800-10490000	Weak transcription	Right Atrium	heart
2	chr8:10453800-10457600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr8:10454400-10457400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr8:10455200-10457000	Enhancers	Esophagus	oesophagus
5	chr8:10455200-10457200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr8:10455200-10457400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:10455200-10457400	Enhancers	Ovary	ovary
8	chr8:10455400-10457000	Enhancers	HMEC	breast
9	chr8:10456400-10457000	Enhancers	Stomach Smooth Muscle	stomach
10	chr8:10456400-10457400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr8:10456400-10458200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:10456600-10460600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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