Variant report

Variant	rs4398957
Chromosome Location	chr8:119240340-119240341
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10112097	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10112115	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10505331	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10808496	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10955865	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10955866	0.84[ASN][1000 genomes]
rs11562743	0.93[ASN][1000 genomes]
rs11985780	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12680308	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13253524	0.98[ASN][1000 genomes]
rs13270533	0.96[ASN][1000 genomes]
rs13278792	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2451125	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2451126	0.81[ASN][1000 genomes]
rs2451128	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2451129	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2451132	0.86[ASN][1000 genomes]
rs2451135	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2451138	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2451164	0.93[ASN][1000 genomes]
rs2451165	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2451168	0.86[ASN][1000 genomes]
rs2451171	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2451172	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2451173	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2451175	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2468144	1.00[YRI][hapmap]
rs2514746	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2514747	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2514749	0.92[ASN][1000 genomes]
rs2514750	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2514751	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2514752	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2514942	0.93[ASN][1000 genomes]
rs2514948	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2514949	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2514951	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2514952	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2514953	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2514954	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2514955	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2514957	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2514958	0.98[ASN][1000 genomes]
rs2514959	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2514960	0.98[ASN][1000 genomes]
rs2514961	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2514962	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2514963	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2514964	0.85[ASN][1000 genomes]
rs2514965	0.86[ASN][1000 genomes]
rs2514966	0.86[ASN][1000 genomes]
rs2514967	0.86[ASN][1000 genomes]
rs2514970	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2514975	0.85[EUR][1000 genomes]
rs4876404	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4876803	0.98[ASN][1000 genomes]
rs901259	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv831441	chr8:119055370-119262970	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv821660	chr8:119082062-119312183	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv1032681	chr8:119153316-119609948	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv539737	chr8:119153316-119609948	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv1016379	chr8:119164234-119448910	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	nsv831442	chr8:119181675-119390122	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119208400-119292400	Weak transcription	Pancreas	Pancrea
2	chr8:119222200-119240400	Weak transcription	Lung	lung
3	chr8:119222800-119244400	Weak transcription	Aorta	Aorta
4	chr8:119223800-119254800	Weak transcription	Gastric	stomach
5	chr8:119231000-119241800	Weak transcription	Brain Hippocampus Middle	brain
6	chr8:119236600-119269200	Weak transcription	GM12878-XiMat	blood
7	chr8:119238200-119242000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr8:119238200-119242200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr8:119238200-119242800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr8:119238800-119240400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:119239000-119240400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:119239000-119240600	Enhancers	HMEC	breast
13	chr8:119239000-119240600	Enhancers	NHEK	skin
14	chr8:119239200-119240400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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