Variant report

Variant	rs74072556
Chromosome Location	chr13:49961299-49961300
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:49959574..49961755-chr13:50016698..50018510,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000102547	Chromatin interaction
ENSG00000136169	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs55969417	0.84[AFR][1000 genomes]
rs74072542	0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv900069	chr13:49815405-49976393	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1047311	chr13:49895019-50224227	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv430558	chr13:49914393-50059354	Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv430559	chr13:49930369-50059354	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv430560	chr13:49930643-50059354	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv430562	chr13:49930643-50067246	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv430561	chr13:49930643-50089844	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv430564	chr13:49945247-50059354	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv430566	chr13:49945247-50089844	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv430571	chr13:49961137-50059354	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv430570	chr13:49961137-50089844	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49945200-49973000	Weak transcription	Brain Substantia Nigra	brain
2	chr13:49946800-49961400	Weak transcription	Brain Hippocampus Middle	brain
3	chr13:49946800-49961400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr13:49946800-49962600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr13:49946800-49964000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr13:49948200-49961600	Weak transcription	Ovary	ovary
7	chr13:49949200-49971200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr13:49950800-49961600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr13:49960800-49961400	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
10	chr13:49960800-49961600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr13:49960800-49961600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr13:49961000-49961400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
13	chr13:49961000-49961400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
14	chr13:49961000-49961400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr13:49961000-49961400	Enhancers	Colon Smooth Muscle	Colon
16	chr13:49961000-49961400	Enhancers	K562	blood
17	chr13:49961000-49961600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr13:49961000-49961600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr13:49961000-49961800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr13:49961000-49962600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr13:49961200-49961400	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr13:49961200-49961600	Enhancers	Brain Anterior Caudate	brain
23	chr13:49961200-49961800	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr13:49961200-49961800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr13:49961200-49962200	Enhancers	Brain Angular Gyrus	brain
26	chr13:49961200-49962200	Enhancers	Fetal Heart	heart
27	chr13:49961200-49962400	Enhancers	Hela-S3	cervix

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