Variant report

Variant	rs13184
Chromosome Location	chr2:54587659-54587660
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11895729	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11904342	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13000039	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13009959	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13023335	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34474573	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34567788	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35123043	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35421399	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4077591	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57798791	0.83[EUR][1000 genomes]
rs62138163	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6711656	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6715177	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6739530	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6761635	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs985773	0.82[EUR][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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54586200-54590600	Enhancers	Fetal Heart	heart
2	chr2:54586400-54587800	Enhancers	Fetal Muscle Leg	muscle
3	chr2:54586400-54588200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr2:54586800-54587800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:54587000-54587800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr2:54587000-54587800	Active TSS	Brain Anterior Caudate	brain
7	chr2:54587200-54587800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:54587200-54587800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:54587200-54587800	Flanking Active TSS	Brain Hippocampus Middle	brain
10	chr2:54587200-54587800	Active TSS	Colon Smooth Muscle	Colon
11	chr2:54587200-54587800	Active TSS	Stomach Smooth Muscle	stomach
12	chr2:54587200-54587800	Flanking Active TSS	NH-A	brain
13	chr2:54587200-54587800	Active TSS	Osteobl	bone
14	chr2:54587200-54588000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:54587400-54587800	Active TSS	Right Atrium	heart
16	chr2:54587400-54587800	Flanking Active TSS	NHLF	lung
17	chr2:54587400-54589200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:54587600-54587800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:54587600-54587800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:54587600-54587800	Flanking Active TSS	Brain Cingulate Gyrus	brain
21	chr2:54587600-54587800	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr2:54587600-54587800	Enhancers	Rectal Smooth Muscle	rectum
23	chr2:54587600-54587800	Enhancers	HepG2	liver
24	chr2:54587600-54587800	Active TSS	HSMMtube	muscle
25	chr2:54587600-54588000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:54587600-54588200	Enhancers	Adipose Nuclei	Adipose
27	chr2:54587600-54588200	Enhancers	Fetal Lung	lung
28	chr2:54587600-54588200	Enhancers	NHDF-Ad	bronchial
29	chr2:54587600-54588400	Enhancers	HUVEC	blood vessel
30	chr2:54587600-54589000	Weak transcription	Ovary	ovary
31	chr2:54587600-54589200	Weak transcription	Brain Angular Gyrus	brain
32	chr2:54587600-54589800	Weak transcription	Left Ventricle	heart
33	chr2:54587600-54591200	Weak transcription	Fetal Brain Male	brain
34	chr2:54587600-54592200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr2:54587600-54606200	Weak transcription	Fetal Kidney	kidney

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