Variant report

Variant	rs34273148
Chromosome Location	chr8:104266195-104266196
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:104265585..104267181-chr8:104287426..104290104,2	MCF-7	breast:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1138873	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12541167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12543038	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13275377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13278361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13278540	0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1353212	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1353213	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1403293	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1494278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1522707	0.84[AMR][1000 genomes]
rs1568641	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16870243	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16870245	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16870249	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17205332	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17799604	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1982892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1982893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2220825	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2270525	0.83[AMR][1000 genomes]
rs3104029	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3104031	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3107646	0.89[AMR][1000 genomes]
rs3107648	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3107649	0.80[AMR][1000 genomes]
rs3116457	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3116462	0.88[AMR][1000 genomes]
rs3116464	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3116466	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3116468	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3133820	0.87[AMR][1000 genomes]
rs3133821	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3133824	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3133825	0.80[AMR][1000 genomes]
rs34185273	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34201011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34337822	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4734693	0.82[ASN][1000 genomes]
rs4734695	0.92[ASN][1000 genomes]
rs9656787	0.84[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	nsv831413	chr8:104085141-104269789	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	esv1848810	chr8:104128496-104369288	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	esv1844303	chr8:104128696-104369090	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv1015965	chr8:104192086-104361108	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers 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	39 gene(s)	inside rSNPs	diseases
6	nsv1017326	chr8:104236193-104313235	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104244000-104268400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:104252200-104279000	Weak transcription	Aorta	Aorta
3	chr8:104256200-104268600	Weak transcription	Left Ventricle	heart
4	chr8:104256600-104266600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr8:104259000-104267400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr8:104259800-104266600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr8:104261400-104267400	Weak transcription	NHDF-Ad	bronchial
8	chr8:104261600-104266800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:104261600-104266800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:104261600-104267800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:104261800-104266800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:104262000-104266600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:104262400-104266400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:104263000-104267400	Weak transcription	Brain Substantia Nigra	brain
15	chr8:104264200-104266400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:104264200-104266800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr8:104264200-104267600	Weak transcription	Osteobl	bone
18	chr8:104264200-104271600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr8:104264400-104266600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:104264400-104266800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:104264400-104267200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:104264400-104267400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:104264600-104266800	Weak transcription	HUVEC	blood vessel

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