Variant report

Variant	rs4709725
Chromosome Location	chr6:164008408-164008409
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	chr6:163881425..163884051-chr6:164006654..164009076,2	K562	blood:
2	chr6:163833702..163836881-chr6:164004949..164008923,4	K562	blood:

Variant related genes	Relation type
ENSG00000270419	Chromatin interaction
ENSG00000112531	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs9346964	0.83[GIH][hapmap]
rs9347768	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9365579	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9458863	0.81[ASN][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	nsv1018860	chr6:163939347-164532579	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538526	chr6:163939347-164532579	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv2758092	chr6:163992064-164161903	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv2759490	chr6:163992064-164161903	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163992200-164009000	Weak transcription	GM12878-XiMat	blood
2	chr6:163998200-164010800	Enhancers	Brain Cingulate Gyrus	brain
3	chr6:163998800-164009000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:164003800-164010000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr6:164005200-164009600	Enhancers	Brain Substantia Nigra	brain
6	chr6:164006400-164009000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr6:164006400-164009200	Enhancers	HUVEC	blood vessel
8	chr6:164006600-164008600	Enhancers	HSMM	muscle
9	chr6:164006800-164008800	Enhancers	Adipose Nuclei	Adipose
10	chr6:164006800-164010000	Enhancers	HMEC	breast
11	chr6:164007000-164008800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr6:164007000-164009800	Enhancers	Hela-S3	cervix
13	chr6:164007200-164009600	Enhancers	Right Ventricle	heart
14	chr6:164007200-164010200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:164007200-164010400	Enhancers	HSMMtube	muscle
16	chr6:164007400-164008800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:164007400-164009400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr6:164007400-164009600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr6:164007400-164011000	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr6:164007600-164008600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:164007600-164008600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:164007600-164008600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:164007600-164008600	Weak transcription	Brain Angular Gyrus	brain
24	chr6:164007600-164008600	Weak transcription	NH-A	brain
25	chr6:164007600-164008600	Weak transcription	NHEK	skin
26	chr6:164007600-164008800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr6:164007600-164008800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:164007600-164009200	Enhancers	Muscle Satellite Cultured Cells	--
29	chr6:164007600-164009200	Weak transcription	Brain Anterior Caudate	brain
30	chr6:164007600-164009400	Weak transcription	Fetal Muscle Leg	muscle
31	chr6:164007600-164009400	Enhancers	K562	blood
32	chr6:164007600-164009600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr6:164007600-164009600	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr6:164007800-164008800	Weak transcription	Brain Hippocampus Middle	brain
35	chr6:164007800-164008800	Weak transcription	NHDF-Ad	bronchial
36	chr6:164007800-164009400	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr6:164007800-164010000	Enhancers	Lung	lung
38	chr6:164007800-164010600	Weak transcription	Fetal Heart	heart
39	chr6:164008000-164008800	Weak transcription	Left Ventricle	heart
40	chr6:164008000-164009800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr6:164008200-164008600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr6:164008200-164009800	Weak transcription	Psoas Muscle	Psoas
43	chr6:164008200-164011400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr6:164008400-164010000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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