Variant report

Variant	rs73032306
Chromosome Location	chr5:7852567-7852568
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr5:7852452-7852955	SK-N-SH	brain:	n/a	chr5:7852801-7852808 chr5:7852802-7852813 chr5:7852801-7852809 chr5:7852799-7852810 chr5:7852801-7852810
2	EBF1	chr5:7852556-7853201	GM12878	blood:	n/a	chr5:7852652-7852665 chr5:7852654-7852663 chr5:7852654-7852664
3	GATA3	chr5:7851489-7852622	MCF-7	breast:	n/a	chr5:7852189-7852199

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:7850851..7852971-chr5:7863121..7865145,2	MCF-7	breast:
2	chr5:7849253..7853514-chr5:7868734..7871211,5	MCF-7	breast:

Variant related genes	Relation type
C5orf49	TF binding region
ENSG00000124279	Chromatin interaction
ENSG00000124275	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs73048918	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916892	chr5:7634377-8158890	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv949492	chr5:7682909-7953909	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv533983	chr5:7701457-8275379	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv461927	chr5:7757812-7854289	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv597004	chr5:7757812-7854289	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:7851000-7853000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr5:7851200-7852800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr5:7851200-7859600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr5:7851400-7852600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr5:7851400-7852800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
6	chr5:7851400-7852800	Enhancers	Lung	lung
7	chr5:7851400-7852800	Enhancers	Right Atrium	heart
8	chr5:7851400-7853200	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr5:7851400-7857800	Weak transcription	Left Ventricle	heart
10	chr5:7851400-7858000	Weak transcription	HSMM	muscle
11	chr5:7851400-7859600	Weak transcription	Esophagus	oesophagus
12	chr5:7851400-7860000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr5:7851600-7852600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr5:7851600-7852600	Bivalent Enhancer	Placenta	Placenta
15	chr5:7851600-7852800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr5:7851600-7852800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr5:7851600-7852800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:7851600-7852800	Enhancers	Pancreas	Pancrea
19	chr5:7851600-7853400	Enhancers	Fetal Lung	lung
20	chr5:7851600-7853400	Enhancers	Ovary	ovary
21	chr5:7851600-7857000	Weak transcription	Fetal Stomach	stomach
22	chr5:7851600-7857600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr5:7851600-7857600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:7851600-7857600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr5:7851600-7857600	Weak transcription	Brain Hippocampus Middle	brain
26	chr5:7851600-7857800	Weak transcription	Brain Angular Gyrus	brain
27	chr5:7851600-7857800	Weak transcription	Colon Smooth Muscle	Colon
28	chr5:7851600-7857800	Weak transcription	Fetal Intestine Large	intestine
29	chr5:7851600-7858000	Weak transcription	Adipose Nuclei	Adipose
30	chr5:7851600-7858200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:7851600-7859000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr5:7851600-7859200	Weak transcription	Fetal Brain Female	brain
33	chr5:7851600-7859800	Weak transcription	Psoas Muscle	Psoas
34	chr5:7851600-7859800	Weak transcription	Right Ventricle	heart
35	chr5:7851600-7860000	Weak transcription	Aorta	Aorta
36	chr5:7851600-7861600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr5:7851600-7861600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr5:7851600-7865000	Weak transcription	Small Intestine	intestine
39	chr5:7851600-7866400	Weak transcription	Fetal Heart	heart
40	chr5:7851800-7853000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr5:7851800-7857800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr5:7851800-7859200	Weak transcription	HMEC	breast
43	chr5:7851800-7859600	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr5:7851800-7861800	Weak transcription	Brain Substantia Nigra	brain
45	chr5:7851800-7868600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr5:7852000-7852600	Enhancers	Fetal Muscle Leg	muscle
47	chr5:7852000-7853600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:7852000-7857600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr5:7852200-7852600	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr5:7852200-7852800	Enhancers	Primary T helper cells fromperipheralblood	blood

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