Variant report

Variant	rs4704622
Chromosome Location	chr5:79476410-79476411
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:79452539..79454095-chr5:79475595..79477433,2	MCF-7	breast:
2	chr5:79476108..79478145-chr5:79532399..79535168,2	MCF-7	breast:
3	chr5:79473747..79483322-chr5:79549257..79556501,16	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164300	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs4704630	0.86[AFR][1000 genomes]
rs4704633	0.87[AFR][1000 genomes]
rs73128070	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73128071	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432748	chr5:79300434-79577760	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79433600-79476600	Weak transcription	Small Intestine	intestine
2	chr5:79438600-79482600	Weak transcription	Psoas Muscle	Psoas
3	chr5:79442000-79487600	Weak transcription	NH-A	brain
4	chr5:79444000-79476800	Weak transcription	Colonic Mucosa	Colon
5	chr5:79450000-79477200	Weak transcription	HMEC	breast
6	chr5:79450000-79477600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr5:79458600-79479600	Weak transcription	Fetal Brain Female	brain
8	chr5:79462400-79476600	Weak transcription	Stomach Mucosa	stomach
9	chr5:79462400-79476800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr5:79464800-79477600	Weak transcription	GM12878-XiMat	blood
11	chr5:79465400-79476800	Weak transcription	Right Ventricle	heart
12	chr5:79465400-79476800	Weak transcription	Spleen	Spleen
13	chr5:79465600-79477600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr5:79465800-79481000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr5:79466400-79476800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:79466400-79477000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr5:79466400-79480400	Weak transcription	Fetal Brain Male	brain
18	chr5:79469000-79476600	Weak transcription	Brain Angular Gyrus	brain
19	chr5:79469000-79477600	Weak transcription	HSMM	muscle
20	chr5:79470000-79485000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:79470200-79476600	Weak transcription	Gastric	stomach
22	chr5:79470600-79476800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr5:79470600-79476800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr5:79470800-79480000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:79471000-79476800	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr5:79471000-79476800	Weak transcription	Primary B cells from peripheral blood	blood
27	chr5:79471000-79476800	Weak transcription	Pancreas	Pancrea
28	chr5:79471000-79488000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:79471400-79476600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:79473000-79476600	Weak transcription	Left Ventricle	heart
31	chr5:79473400-79478800	Weak transcription	Lung	lung
32	chr5:79473600-79476600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr5:79473600-79476600	Weak transcription	Fetal Lung	lung
34	chr5:79473600-79476600	Weak transcription	HepG2	liver
35	chr5:79473600-79476800	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr5:79473600-79476800	Weak transcription	Esophagus	oesophagus
37	chr5:79473600-79477000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr5:79473600-79477000	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr5:79473600-79477200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr5:79473600-79482600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr5:79473600-79483200	Weak transcription	Fetal Stomach	stomach
42	chr5:79473600-79487600	Weak transcription	Rectal Smooth Muscle	rectum
43	chr5:79473800-79476800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr5:79473800-79476800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr5:79473800-79477000	Weak transcription	Adipose Nuclei	Adipose
46	chr5:79473800-79477200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr5:79473800-79477400	Weak transcription	NHEK	skin
48	chr5:79473800-79477600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr5:79473800-79477600	Weak transcription	Fetal Muscle Leg	muscle
50	chr5:79473800-79478800	Enhancers	Primary T helper naive cells from peripheral blood	blood

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