Variant report

Variant	rs7080607
Chromosome Location	chr10:50655179-50655180
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50648888..50650860-chr10:50652961..50655311,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ERCC6-1	chr10:50641879-50655452	NONHSAT013306

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1012553	0.90[ASN][1000 genomes]
rs1012554	0.90[ASN][1000 genomes]
rs10776576	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10857494	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10857495	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10857496	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10857498	0.87[AFR][1000 genomes]
rs10857503	0.81[ASN][1000 genomes]
rs11101133	0.81[AFR][1000 genomes]
rs11101137	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs11101140	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11101148	0.83[ASN][1000 genomes]
rs11101153	0.80[ASN][1000 genomes]
rs11101154	0.81[ASN][1000 genomes]
rs11527799	0.81[ASN][1000 genomes]
rs11594945	0.81[ASN][1000 genomes]
rs11815415	0.99[ASN][1000 genomes]
rs12217467	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12218455	0.81[ASN][1000 genomes]
rs12218602	0.81[ASN][1000 genomes]
rs12219670	0.82[AMR][1000 genomes]
rs12220258	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12221460	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12244804	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs1917799	0.81[ASN][1000 genomes]
rs1924488	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1924489	0.80[ASN][1000 genomes]
rs2228524	0.90[ASN][1000 genomes]
rs2228528	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28454254	0.87[AFR][1000 genomes]
rs2889771	0.81[ASN][1000 genomes]
rs3750745	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3750749	0.80[AFR][1000 genomes]
rs3763728	0.80[ASN][1000 genomes]
rs3793786	0.88[ASN][1000 genomes]
rs3793788	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3810945	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs4012459	0.81[ASN][1000 genomes]
rs4240507	0.92[ASN][1000 genomes]
rs4240508	0.94[ASN][1000 genomes]
rs4253009	0.84[ASN][1000 genomes]
rs4253024	0.90[ASN][1000 genomes]
rs4253082	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4253095	0.83[AFR][1000 genomes]
rs4253138	0.84[AFR][1000 genomes]
rs4253145	0.87[AFR][1000 genomes]
rs4253215	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs4253226	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56002988	0.81[ASN][1000 genomes]
rs57761316	0.81[ASN][1000 genomes]
rs59219652	0.81[ASN][1000 genomes]
rs61143747	0.91[AFR][1000 genomes]
rs61288726	0.81[ASN][1000 genomes]
rs6537537	0.99[ASN][1000 genomes]
rs7070896	0.80[ASN][1000 genomes]
rs7082895	0.84[ASN][1000 genomes]
rs7086144	0.84[AFR][1000 genomes]
rs7087700	0.94[ASN][1000 genomes]
rs7100734	0.80[ASN][1000 genomes]
rs73297748	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs73305562	0.87[AFR][1000 genomes]
rs7899981	0.80[ASN][1000 genomes]
rs7901433	0.99[ASN][1000 genomes]
rs7904860	0.80[ASN][1000 genomes]
rs7906303	0.80[ASN][1000 genomes]
rs7908359	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv895377	chr10:50588990-50678212	ZNF genes & repeats Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv831867	chr10:50607857-50788751	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	esv3346476	chr10:50610853-50987802	Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
6	esv3385048	chr10:50610942-50988537	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50638400-50665800	Weak transcription	Gastric	stomach
2	chr10:50645800-50655200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr10:50648000-50662200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr10:50648000-50662200	Weak transcription	Left Ventricle	heart
5	chr10:50648400-50662200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr10:50649600-50665600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr10:50650400-50662200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr10:50650400-50662200	Weak transcription	Placenta	Placenta
9	chr10:50650400-50662200	Weak transcription	Pancreas	Pancrea
10	chr10:50650400-50662200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr10:50650800-50662000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr10:50650800-50662200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr10:50652200-50662200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr10:50652400-50662400	Weak transcription	Aorta	Aorta
15	chr10:50653800-50655400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr10:50654000-50655400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr10:50654400-50655600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr10:50654600-50655400	Enhancers	Primary hematopoietic stem cells	blood
19	chr10:50654800-50658000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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