Variant report

Variant	rs380307
Chromosome Location	chr6:57119845-57119846
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:57117734..57121990-chr6:57123203..57126438,5	MCF-7	breast:
2	chr6:57117930..57120024-chr6:57123463..57125355,2	K562	blood:
3	chr6:57117930..57121391-chr6:57123083..57125355,3	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10081080	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs106782	0.93[ASN][1000 genomes]
rs11751737	0.80[ASN][1000 genomes]
rs11752218	0.80[ASN][1000 genomes]
rs11752964	0.80[ASN][1000 genomes]
rs11758642	0.80[ASN][1000 genomes]
rs13193843	0.87[ASN][1000 genomes]
rs13194005	0.80[ASN][1000 genomes]
rs13194760	0.80[ASN][1000 genomes]
rs13195089	0.80[ASN][1000 genomes]
rs13196690	0.80[ASN][1000 genomes]
rs13197168	0.80[ASN][1000 genomes]
rs13197209	0.87[ASN][1000 genomes]
rs13197375	0.80[ASN][1000 genomes]
rs13202171	0.80[ASN][1000 genomes]
rs13210513	0.80[ASN][1000 genomes]
rs13210602	0.80[ASN][1000 genomes]
rs13210603	0.80[ASN][1000 genomes]
rs13213618	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13219670	0.80[ASN][1000 genomes]
rs1330630	0.80[ASN][1000 genomes]
rs1330631	0.87[ASN][1000 genomes]
rs1330632	0.87[ASN][1000 genomes]
rs1330633	0.80[ASN][1000 genomes]
rs17683360	0.80[ASN][1000 genomes]
rs223292	0.93[ASN][1000 genomes]
rs223293	0.93[ASN][1000 genomes]
rs223295	0.93[ASN][1000 genomes]
rs34316771	0.93[ASN][1000 genomes]
rs35060539	0.80[ASN][1000 genomes]
rs6901430	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6917004	0.87[ASN][1000 genomes]
rs6927231	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71564886	0.93[ASN][1000 genomes]
rs71566846	0.80[ASN][1000 genomes]
rs71566847	0.80[ASN][1000 genomes]
rs71566848	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1034095	chr6:57102042-57162808	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv528165	chr6:57104266-57130574	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:57116600-57120000	Enhancers	Rectal Smooth Muscle	rectum
2	chr6:57117600-57120000	Enhancers	HepG2	liver
3	chr6:57118200-57122400	Weak transcription	NH-A	brain
4	chr6:57118400-57122200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr6:57118400-57122400	Weak transcription	Aorta	Aorta
6	chr6:57118400-57122400	Weak transcription	HSMMtube	muscle
7	chr6:57118400-57126600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr6:57118400-57128200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:57118600-57120000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:57118600-57120000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:57118800-57120000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr6:57118800-57121000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr6:57118800-57121400	Weak transcription	Osteobl	bone
14	chr6:57118800-57121600	Weak transcription	NHLF	lung
15	chr6:57118800-57122800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr6:57119000-57120000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:57119000-57121600	Weak transcription	NHDF-Ad	bronchial
18	chr6:57119000-57122200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr6:57119000-57122400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:57119200-57120000	Enhancers	Fetal Kidney	kidney
21	chr6:57119200-57121400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:57119200-57122400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:57119200-57122400	Weak transcription	Ovary	ovary
24	chr6:57119400-57120400	Weak transcription	Colon Smooth Muscle	Colon
25	chr6:57119400-57121000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr6:57119400-57121400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr6:57119400-57121400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:57119400-57122200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr6:57119400-57122400	Weak transcription	Fetal Stomach	stomach
30	chr6:57119600-57122400	Weak transcription	Stomach Smooth Muscle	stomach

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