Variant report

Variant	rs7419821
Chromosome Location	chr2:54666228-54666229
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:54655292..54657691-chr2:54665507..54667789,2	K562	blood:
2	chr2:54663522..54666566-chr2:54666978..54670736,4	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10181826	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10496030	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11125539	0.91[CEU][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11694121	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12470235	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13393949	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35636918	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4505569	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56257354	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72804673	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72804674	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7574630	0.83[AMR][1000 genomes];0.92[EUR][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	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

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54660200-54666600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:54660200-54668200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr2:54663200-54667600	Weak transcription	HSMMtube	muscle
4	chr2:54664200-54666400	Weak transcription	Right Atrium	heart
5	chr2:54664800-54668800	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr2:54665000-54668400	Enhancers	Brain Substantia Nigra	brain
7	chr2:54665000-54668600	Enhancers	Adipose Nuclei	Adipose
8	chr2:54665200-54666600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr2:54665200-54666800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:54665200-54668000	Enhancers	Fetal Lung	lung
11	chr2:54665200-54668400	Enhancers	Brain Hippocampus Middle	brain
12	chr2:54665400-54666600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:54665400-54667200	Weak transcription	Fetal Heart	heart
14	chr2:54665400-54667800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr2:54665400-54667800	Enhancers	HepG2	liver
16	chr2:54665400-54668600	Enhancers	Fetal Muscle Leg	muscle
17	chr2:54665600-54666800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:54665600-54667200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:54665600-54667200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:54665600-54667200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr2:54665800-54666600	Weak transcription	Pancreas	Pancrea
22	chr2:54665800-54667200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr2:54666000-54667200	Weak transcription	Brain Anterior Caudate	brain
24	chr2:54666000-54667600	Enhancers	Lung	lung
25	chr2:54666000-54667600	Enhancers	Ovary	ovary
26	chr2:54666000-54667600	Enhancers	Right Ventricle	heart
27	chr2:54666000-54667800	Enhancers	Left Ventricle	heart
28	chr2:54666200-54666800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr2:54666200-54667200	Weak transcription	Brain Angular Gyrus	brain
30	chr2:54666200-54667800	Enhancers	Psoas Muscle	Psoas

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