Variant report

Variant	rs4704611
Chromosome Location	chr5:79413104-79413105
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11950944	0.90[ASN][1000 genomes]
rs12523350	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13167875	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1863959	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2028270	0.90[ASN][1000 genomes]
rs4703798	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4704613	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4704614	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6867810	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv598744	chr5:79388745-79423347	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79406200-79421000	Weak transcription	Right Ventricle	heart
2	chr5:79406800-79415200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr5:79407400-79424000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr5:79409400-79417600	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr5:79409800-79420800	Weak transcription	Thymus	Thymus
6	chr5:79410000-79430800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:79410200-79417400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr5:79410400-79413400	Weak transcription	Fetal Intestine Small	intestine
9	chr5:79410400-79414000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr5:79411000-79413200	Weak transcription	Fetal Thymus	thymus
11	chr5:79411000-79413800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr5:79411200-79413600	Weak transcription	Fetal Lung	lung
13	chr5:79411400-79413800	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr5:79411600-79413600	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr5:79411800-79414000	Enhancers	Primary T cells fromperipheralblood	blood
16	chr5:79411800-79414400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr5:79411800-79415800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr5:79412000-79413200	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr5:79412200-79413400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr5:79412200-79413800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr5:79412400-79413800	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr5:79412400-79415000	Weak transcription	Fetal Heart	heart
23	chr5:79412600-79414600	Weak transcription	Left Ventricle	heart
24	chr5:79412600-79424200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr5:79413000-79413200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
26	chr5:79413000-79413200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:79413000-79413200	Enhancers	Ovary	ovary
28	chr5:79413000-79413400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr5:79413000-79413600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr5:79413000-79413600	Enhancers	Dnd41	blood
31	chr5:79413000-79413800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:79413000-79413800	Genic enhancers	Primary T cells from cord blood	blood
33	chr5:79413000-79413800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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