Variant report

Variant	rs3004255
Chromosome Location	chr10:43448012-43448013
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:43436378..43438483-chr10:43446013..43449214,3	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2185792	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3121315	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3121316	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3121320	0.91[EUR][1000 genomes]
rs3123724	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3123727	0.91[EUR][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	nsv1042764	chr10:42846383-43511712	Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1050394	chr10:42890663-43604956	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
3	nsv540573	chr10:42890663-43604956	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
4	nsv534548	chr10:42890664-43729688	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS 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	56 gene(s)	inside rSNPs	diseases
5	esv2758216	chr10:42965131-43510191	Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	esv2759746	chr10:42965131-43510191	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
8	nsv971907	chr10:43435400-43449867	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv1038102	chr10:43441601-43642908	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43446800-43448200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr10:43447000-43448600	Enhancers	Right Ventricle	heart
3	chr10:43447200-43448200	Bivalent Enhancer	Fetal Stomach	stomach
4	chr10:43447400-43449000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr10:43447600-43448200	Active TSS	Hela-S3	cervix
6	chr10:43447600-43448400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr10:43447600-43448400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr10:43447600-43450600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr10:43447600-43455800	Weak transcription	Left Ventricle	heart
10	chr10:43447800-43448200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr10:43447800-43448200	Bivalent Enhancer	Placenta	Placenta
12	chr10:43447800-43448200	Bivalent Enhancer	HepG2	liver
13	chr10:43447800-43448400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr10:43447800-43448600	Enhancers	Pancreas	Pancrea
15	chr10:43447800-43448800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr10:43448000-43448200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr10:43448000-43448200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr10:43448000-43448200	Enhancers	Spleen	Spleen
19	chr10:43448000-43448400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr10:43448000-43448400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr10:43448000-43448400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
22	chr10:43448000-43448400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr10:43448000-43448400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr10:43448000-43448400	Enhancers	NHEK	skin
25	chr10:43448000-43448600	Enhancers	H9 Cell Line	embryonic stem cell
26	chr10:43448000-43448600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr10:43448000-43449200	Enhancers	H1 Cell Line	embryonic stem cell
28	chr10:43448000-43450000	Weak transcription	HMEC	breast
29	chr10:43448000-43450200	Enhancers	Fetal Muscle Leg	muscle

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