Variant report

Variant	rs843669
Chromosome Location	chr2:54559793-54559794
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	chr2:54341443..54343043-chr2:54557751..54559883,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170634	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11690242	0.82[TSI][hapmap]
rs12465432	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17045807	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003205	chr2:54220049-54700843	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv2762639	chr2:54220049-54700855	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1011790	chr2:54220049-54714553	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1002891	chr2:54227005-54682169	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv535722	chr2:54227005-54682169	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1011690	chr2:54255361-54700843	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv532512	chr2:54453210-54630755	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1004632	chr2:54469283-54590480	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	esv1815958	chr2:54559793-54567092	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv582013	chr2:54559793-54567329	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv582014	chr2:54559793-54567441	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 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	chr2:54558600-54562200	Weak transcription	HSMM	muscle
2	chr2:54558600-54562200	Weak transcription	HSMMtube	muscle
3	chr2:54558600-54562600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:54558600-54562800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:54558600-54563000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:54558600-54563400	Weak transcription	Aorta	Aorta
7	chr2:54558600-54563400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:54558800-54559800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:54558800-54562000	Weak transcription	Fetal Heart	heart
10	chr2:54558800-54562200	Weak transcription	NHLF	lung
11	chr2:54558800-54562600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:54558800-54562800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:54558800-54562800	Weak transcription	Right Atrium	heart
14	chr2:54558800-54562800	Weak transcription	Osteobl	bone
15	chr2:54558800-54563000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr2:54558800-54563200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:54558800-54563200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr2:54558800-54563400	Weak transcription	Colon Smooth Muscle	Colon
19	chr2:54558800-54563800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:54558800-54563800	Weak transcription	Adipose Nuclei	Adipose
21	chr2:54558800-54563800	Weak transcription	Brain Hippocampus Middle	brain
22	chr2:54558800-54563800	Weak transcription	Lung	lung
23	chr2:54558800-54574800	Weak transcription	Left Ventricle	heart
24	chr2:54559000-54563400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:54559000-54563400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr2:54559000-54563400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr2:54559000-54568400	Weak transcription	Right Ventricle	heart
28	chr2:54559200-54563600	Weak transcription	Brain Anterior Caudate	brain
29	chr2:54559400-54560600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:54559400-54562400	Weak transcription	NHDF-Ad	bronchial

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