Variant report

Variant	rs13173144
Chromosome Location	chr5:36609024-36609025
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	chr5:36607368..36609529-chr5:36613052..36615679,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000079215	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11741316	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11743024	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13154397	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13155110	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13170531	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13179272	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35668907	0.94[AMR][1000 genomes];0.97[EUR][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	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv881025	chr5:36575021-36613053	Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
3	nsv830263	chr5:36576504-36755093	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv2762516	chr5:36599385-36613201	Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36604800-36612000	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr5:36605400-36612800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr5:36605600-36609800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr5:36605600-36609800	Active TSS	Brain Hippocampus Middle	brain
5	chr5:36605800-36611200	Active TSS	Right Atrium	heart
6	chr5:36606000-36609200	Active TSS	Brain Substantia Nigra	brain
7	chr5:36606000-36609200	Active TSS	Fetal Heart	heart
8	chr5:36606000-36609200	Active TSS	Psoas Muscle	Psoas
9	chr5:36606000-36609400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:36606000-36610400	Active TSS	Right Ventricle	heart
11	chr5:36606200-36610000	Active TSS	Brain Cingulate Gyrus	brain
12	chr5:36606200-36610400	Active TSS	Left Ventricle	heart
13	chr5:36606200-36611000	Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr5:36606400-36612000	Active TSS	Fetal Brain Female	brain
15	chr5:36606800-36610400	Active TSS	Brain Germinal Matrix	brain
16	chr5:36607000-36610800	Active TSS	Fetal Brain Male	brain
17	chr5:36607800-36609800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr5:36607800-36610200	Weak transcription	Aorta	Aorta
19	chr5:36607800-36613600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr5:36608000-36609200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr5:36608200-36611800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:36608200-36613400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr5:36608400-36609200	Transcr. at gene 5' and 3'	Brain Anterior Caudate	brain
24	chr5:36608400-36609200	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr5:36608400-36609200	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr5:36608400-36609400	Transcr. at gene 5' and 3'	HSMM	muscle
27	chr5:36608400-36615400	Weak transcription	HSMMtube	muscle
28	chr5:36608400-36617200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr5:36608600-36609200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr5:36608600-36609200	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr5:36608600-36609600	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
32	chr5:36608600-36611600	Weak transcription	Fetal Muscle Trunk	muscle
33	chr5:36608600-36611800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr5:36608600-36612800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr5:36608600-36612800	Weak transcription	Fetal Lung	lung
36	chr5:36608600-36613000	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr5:36608600-36617200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr5:36608800-36609200	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
39	chr5:36608800-36609400	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr5:36608800-36609400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr5:36608800-36609400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr5:36608800-36609400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr5:36608800-36609400	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
44	chr5:36608800-36609400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr5:36608800-36609400	Active TSS	Brain Angular Gyrus	brain
46	chr5:36608800-36609800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:36608800-36609800	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr5:36608800-36610400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr5:36608800-36611000	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr5:36608800-36611200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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