Variant report

Variant	rs74076629
Chromosome Location	chr13:51060060-51060061
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	chr13:51059299..51061286-chr13:51063138..51065247,2	MCF-7	breast:
2	chr13:51057495..51060887-chr13:51065845..51068156,3	K562	blood:

Variant related genes	Relation type
ENSG00000176124	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs55818564	1.00[AMR][1000 genomes]
rs56329261	1.00[AMR][1000 genomes]
rs74076622	1.00[AMR][1000 genomes]
rs74076624	1.00[AMR][1000 genomes]
rs74076626	1.00[AMR][1000 genomes]
rs74076631	0.85[AFR][1000 genomes]
rs74076632	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74076633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74076634	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74076635	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74076636	1.00[AMR][1000 genomes]
rs74079212	1.00[AMR][1000 genomes]
rs74079227	1.00[AMR][1000 genomes]
rs74079228	1.00[AMR][1000 genomes]
rs74079233	1.00[AMR][1000 genomes]
rs74079235	1.00[AMR][1000 genomes]
rs74079244	1.00[AMR][1000 genomes]
rs74079246	1.00[AMR][1000 genomes]
rs74079248	1.00[AMR][1000 genomes]
rs74079251	1.00[AMR][1000 genomes]
rs74079254	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	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	nsv832609	chr13:50946577-51065968	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1045237	chr13:50976560-51102386	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv1040	chr13:51041591-51090903	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv526482	chr13:51042258-51065836	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv510585	chr13:51057884-51083783	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51041800-51060600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr13:51053400-51060200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr13:51056400-51060200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr13:51058400-51061400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr13:51058400-51061400	Enhancers	Fetal Heart	heart
6	chr13:51058600-51060200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr13:51059000-51060200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr13:51059000-51060400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr13:51059000-51060400	Enhancers	Osteobl	bone
10	chr13:51059000-51060600	Weak transcription	Right Atrium	heart
11	chr13:51059000-51061200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr13:51059200-51060200	Weak transcription	Brain Substantia Nigra	brain
13	chr13:51059200-51060400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr13:51059200-51060400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr13:51059200-51060400	Weak transcription	Ovary	ovary
16	chr13:51059200-51060400	Weak transcription	K562	blood
17	chr13:51059200-51060400	Weak transcription	NH-A	brain
18	chr13:51059200-51060600	Enhancers	Brain Angular Gyrus	brain
19	chr13:51059200-51061000	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr13:51059200-51061200	Enhancers	Brain Anterior Caudate	brain
21	chr13:51059200-51061400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr13:51059800-51060400	Enhancers	Fetal Lung	lung
23	chr13:51059800-51060400	Enhancers	NHDF-Ad	bronchial
24	chr13:51059800-51061000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr13:51060000-51060200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr13:51060000-51060200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr13:51060000-51060600	Active TSS	Brain Hippocampus Middle	brain
28	chr13:51060000-51061200	Enhancers	NHLF	lung

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