Variant report

Variant	rs73957206
Chromosome Location	chr2:134524130-134524131
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11883512	0.83[AMR][1000 genomes]
rs11888142	0.85[AMR][1000 genomes]
rs11892278	1.00[AMR][1000 genomes]
rs58744145	0.83[AMR][1000 genomes]
rs61136240	0.85[AMR][1000 genomes]
rs6713798	0.83[AMR][1000 genomes]
rs6746677	0.83[AMR][1000 genomes]
rs73957204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73957207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7607368	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1006101	chr2:134263288-134973917	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1013713	chr2:134322236-134644574	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv535931	chr2:134322236-134644574	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr2:134522800-134524600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr2:134522800-134525200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr2:134523000-134524200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:134523000-134524200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:134523000-134524400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:134523000-134524600	Enhancers	Brain Substantia Nigra	brain
7	chr2:134523000-134524600	Enhancers	HepG2	liver
8	chr2:134523000-134524600	Enhancers	NHDF-Ad	bronchial
9	chr2:134523000-134524800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:134523000-134524800	Enhancers	Osteobl	bone
11	chr2:134523000-134526400	Enhancers	Liver	Liver
12	chr2:134523000-134526400	Enhancers	Fetal Heart	heart
13	chr2:134523200-134524200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr2:134523200-134524200	Enhancers	Brain Angular Gyrus	brain
15	chr2:134523200-134524200	Enhancers	Fetal Lung	lung
16	chr2:134523200-134524400	Enhancers	Colon Smooth Muscle	Colon
17	chr2:134523200-134524400	Enhancers	Fetal Muscle Leg	muscle
18	chr2:134523200-134524800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:134523200-134524800	Enhancers	Ovary	ovary
20	chr2:134523400-134524200	Enhancers	Rectal Smooth Muscle	rectum
21	chr2:134523400-134524200	Weak transcription	Right Atrium	heart
22	chr2:134523400-134524400	Enhancers	Brain Anterior Caudate	brain
23	chr2:134523400-134524400	Weak transcription	Left Ventricle	heart
24	chr2:134523600-134524400	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr2:134523600-134524400	Weak transcription	NHLF	lung
26	chr2:134523600-134532400	Weak transcription	Right Ventricle	heart
27	chr2:134523800-134524400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:134524000-134524400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:134524000-134524400	Weak transcription	Fetal Stomach	stomach
30	chr2:134524000-134529400	Weak transcription	Adipose Nuclei	Adipose
31	chr2:134524000-134530800	Weak transcription	Brain Hippocampus Middle	brain
32	chr2:134524000-134531200	Weak transcription	Brain Cingulate Gyrus	brain

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