Variant report

Variant	rs4939242
Chromosome Location	chr11:58667701-58667702
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1943141	1.00[EUR][1000 genomes]
rs2187267	1.00[EUR][1000 genomes]
rs473548	1.00[EUR][1000 genomes]
rs476776	1.00[EUR][1000 genomes]
rs506360	1.00[EUR][1000 genomes]
rs508359	1.00[EUR][1000 genomes]
rs512676	1.00[EUR][1000 genomes]
rs518154	1.00[EUR][1000 genomes]
rs524585	1.00[EUR][1000 genomes]
rs524821	1.00[EUR][1000 genomes]
rs525303	1.00[EUR][1000 genomes]
rs531424	1.00[EUR][1000 genomes]
rs531497	1.00[EUR][1000 genomes]
rs540242	1.00[EUR][1000 genomes]
rs541312	1.00[EUR][1000 genomes]
rs542363	1.00[EUR][1000 genomes]
rs560837	1.00[EUR][1000 genomes]
rs56092931	1.00[EUR][1000 genomes]
rs56208934	1.00[EUR][1000 genomes]
rs572417	1.00[EUR][1000 genomes]
rs57426705	1.00[EUR][1000 genomes]
rs57549228	1.00[EUR][1000 genomes]
rs58476503	1.00[EUR][1000 genomes]
rs666228	1.00[EUR][1000 genomes]
rs693161	1.00[EUR][1000 genomes]
rs693371	1.00[EUR][1000 genomes]
rs7933301	1.00[EUR][1000 genomes]
rs7946085	1.00[EUR][1000 genomes]
rs7946855	1.00[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	nsv1050013	chr11:58394598-59221090	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv948365	chr11:58515163-59156405	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv1048605	chr11:58534660-58672438	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1045858	chr11:58547772-58674568	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1052173	chr11:58553516-58678496	Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv3444895	chr11:58614102-58779384	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	esv1824025	chr11:58626835-58669877	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv1831269	chr11:58626835-58669877	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	esv3445007	chr11:58638330-58709867	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58635000-58668000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:58651000-58671200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr11:58658400-58668000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr11:58659000-58668000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr11:58659400-58671000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:58661800-58667800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr11:58662400-58667800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr11:58663600-58668000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:58664000-58668000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:58665000-58668800	Enhancers	Primary hematopoietic stem cells	blood
11	chr11:58665200-58667800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:58665200-58667800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr11:58665200-58671600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr11:58665600-58667800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:58665600-58667800	Weak transcription	HMEC	breast
16	chr11:58665600-58668000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:58666000-58668000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr11:58666000-58668000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:58666200-58667800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr11:58666200-58668000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:58666400-58668200	Weak transcription	Primary B cells from cord blood	blood
22	chr11:58667000-58668200	Enhancers	Fetal Thymus	thymus
23	chr11:58667400-58667800	Weak transcription	Thymus	Thymus
24	chr11:58667400-58668000	Enhancers	Fetal Muscle Leg	muscle
25	chr11:58667400-58668400	Enhancers	NHDF-Ad	bronchial
26	chr11:58667400-58668600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
27	chr11:58667600-58667800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:58667600-58667800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr11:58667600-58668000	Enhancers	Brain Germinal Matrix	brain
30	chr11:58667600-58668400	Active TSS	Brain Angular Gyrus	brain
31	chr11:58667600-58668400	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr11:58667600-58668800	Active TSS	Fetal Brain Female	brain

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