Variant report

Variant	rs74079254
Chromosome Location	chr13:51025748-51025749
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:50994481..50996784-chr13:51024058..51026768,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55818564	1.00[AMR][1000 genomes]
rs56329261	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74076622	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74076624	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74076626	1.00[AMR][1000 genomes]
rs74076629	1.00[AMR][1000 genomes]
rs74076631	0.88[AFR][1000 genomes]
rs74076632	1.00[AMR][1000 genomes]
rs74076633	1.00[AMR][1000 genomes]
rs74076634	1.00[AMR][1000 genomes]
rs74076635	1.00[AMR][1000 genomes]
rs74076636	1.00[AMR][1000 genomes]
rs74079212	1.00[AMR][1000 genomes]
rs74079227	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74079228	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74079233	1.00[AMR][1000 genomes]
rs74079235	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74079244	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74079246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74079248	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74079251	1.00[AFR][1000 genomes];1.00[AMR][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	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	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases
5	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
6	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

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51019600-51025800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr13:51021600-51025800	Weak transcription	Pancreas	Pancrea
3	chr13:51022000-51027200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr13:51022600-51034200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr13:51023000-51026200	Weak transcription	Fetal Kidney	kidney
6	chr13:51023000-51027000	Weak transcription	Psoas Muscle	Psoas
7	chr13:51023200-51026800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr13:51023200-51026800	Weak transcription	Fetal Heart	heart
9	chr13:51023200-51027000	Weak transcription	Fetal Muscle Leg	muscle
10	chr13:51023200-51027000	Weak transcription	Right Atrium	heart
11	chr13:51023200-51027200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr13:51023200-51027400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr13:51023200-51027400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr13:51023200-51030200	Weak transcription	Colon Smooth Muscle	Colon
15	chr13:51023400-51026200	Weak transcription	Brain Hippocampus Middle	brain
16	chr13:51023400-51026400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr13:51023400-51026800	Weak transcription	Adipose Nuclei	Adipose
18	chr13:51023400-51027000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr13:51023400-51027000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr13:51023600-51025800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr13:51023600-51026800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr13:51023600-51027000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr13:51023600-51027000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr13:51023600-51027400	Weak transcription	HMEC	breast
25	chr13:51024600-51026400	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr13:51024600-51030200	Weak transcription	Aorta	Aorta
27	chr13:51024800-51026200	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr13:51025000-51026200	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr13:51025400-51026000	Enhancers	Primary T cells fromperipheralblood	blood
30	chr13:51025400-51026200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr13:51025600-51026000	Enhancers	Left Ventricle	heart
32	chr13:51025600-51026000	Enhancers	Lung	lung
33	chr13:51025600-51026200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr13:51025600-51026200	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr13:51025600-51026400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr13:51025600-51027200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr13:51025600-51028200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr13:51025600-51032400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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