Variant report

Variant	rs13404835
Chromosome Location	chr2:54587955-54587956
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54587660..54591238-chr2:54594163..54597733,4	K562	blood:
2	chr2:54578951..54582305-chr2:54585861..54589772,4	K562	blood:
3	chr2:54587411..54590325-chr2:54591088..54593008,2	MCF-7	breast:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10168899	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10177706	1.00[AMR][1000 genomes]
rs10182439	1.00[AMR][1000 genomes]
rs10184091	1.00[AMR][1000 genomes]
rs10184388	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10190817	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10192536	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10192849	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10193885	1.00[AMR][1000 genomes]
rs10195165	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10195657	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10196054	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10206181	1.00[AMR][1000 genomes]
rs10206939	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10207434	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10207830	1.00[AMR][1000 genomes]
rs10209379	1.00[AMR][1000 genomes]
rs10210249	1.00[AMR][1000 genomes]
rs11125530	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13386127	1.00[AMR][1000 genomes]
rs13386211	1.00[AMR][1000 genomes]
rs13389240	1.00[AMR][1000 genomes]
rs13390991	1.00[AMR][1000 genomes]
rs13392879	1.00[AMR][1000 genomes]
rs13392982	1.00[AMR][1000 genomes]
rs13393792	1.00[AMR][1000 genomes]
rs13396310	1.00[AMR][1000 genomes]
rs13396318	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs13407955	1.00[AMR][1000 genomes]
rs13410757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13411424	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13411458	1.00[AMR][1000 genomes]
rs13415033	1.00[AMR][1000 genomes]
rs13415558	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13419158	1.00[AMR][1000 genomes]
rs13423383	1.00[AMR][1000 genomes]
rs13423617	1.00[AMR][1000 genomes]
rs13425423	0.83[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13431239	1.00[AMR][1000 genomes]
rs28607569	1.00[AMR][1000 genomes]
rs28698214	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9808395	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54586200-54590600	Enhancers	Fetal Heart	heart
2	chr2:54586400-54588200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr2:54587200-54588000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:54587400-54589200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:54587600-54588000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:54587600-54588200	Enhancers	Adipose Nuclei	Adipose
7	chr2:54587600-54588200	Enhancers	Fetal Lung	lung
8	chr2:54587600-54588200	Enhancers	NHDF-Ad	bronchial
9	chr2:54587600-54588400	Enhancers	HUVEC	blood vessel
10	chr2:54587600-54589000	Weak transcription	Ovary	ovary
11	chr2:54587600-54589200	Weak transcription	Brain Angular Gyrus	brain
12	chr2:54587600-54589800	Weak transcription	Left Ventricle	heart
13	chr2:54587600-54591200	Weak transcription	Fetal Brain Male	brain
14	chr2:54587600-54592200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr2:54587600-54606200	Weak transcription	Fetal Kidney	kidney
16	chr2:54587800-54588000	Enhancers	Brain Cingulate Gyrus	brain
17	chr2:54587800-54588000	Enhancers	Brain Hippocampus Middle	brain
18	chr2:54587800-54588200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:54587800-54588200	Enhancers	Fetal Brain Female	brain
20	chr2:54587800-54588200	Enhancers	NHLF	lung
21	chr2:54587800-54588800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:54587800-54589000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:54587800-54589600	Weak transcription	Right Atrium	heart
24	chr2:54587800-54593000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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