Variant report

Variant	rs7593635
Chromosome Location	chr2:54599515-54599516
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11980	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs60328443	0.89[AFR][1000 genomes]
rs7604863	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54587600-54606200	Weak transcription	Fetal Kidney	kidney
2	chr2:54596800-54600200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:54597200-54601400	Enhancers	Adipose Nuclei	Adipose
4	chr2:54597600-54599800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:54597600-54600000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr2:54597800-54599600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:54597800-54600600	Enhancers	Fetal Muscle Trunk	muscle
8	chr2:54597800-54600600	Enhancers	Placenta	Placenta
9	chr2:54597800-54600800	Enhancers	Right Atrium	heart
10	chr2:54597800-54601000	Enhancers	Fetal Muscle Leg	muscle
11	chr2:54597800-54601200	Enhancers	Right Ventricle	heart
12	chr2:54597800-54601400	Enhancers	Left Ventricle	heart
13	chr2:54598000-54599800	Bivalent Enhancer	HepG2	liver
14	chr2:54598000-54600000	Enhancers	Fetal Heart	heart
15	chr2:54598400-54601000	Enhancers	Psoas Muscle	Psoas
16	chr2:54598400-54602000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr2:54598600-54600200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:54598600-54600200	Enhancers	HSMM	muscle
19	chr2:54598800-54611000	Weak transcription	Brain Substantia Nigra	brain
20	chr2:54599000-54599600	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr2:54599000-54600200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:54599000-54601200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr2:54599000-54601800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:54599000-54601800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:54599000-54605000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:54599000-54607800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr2:54599000-54611800	Weak transcription	Ovary	ovary
28	chr2:54599000-54614800	Weak transcription	Pancreas	Pancrea
29	chr2:54599200-54599600	Weak transcription	Lung	lung
30	chr2:54599200-54600000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr2:54599200-54601200	Weak transcription	Fetal Lung	lung
32	chr2:54599200-54611200	Weak transcription	Brain Angular Gyrus	brain
33	chr2:54599400-54599600	Flanking Active TSS	HSMMtube	muscle
34	chr2:54599400-54599800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:54599400-54599800	Enhancers	Skeletal Muscle Male	skeletal muscle

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