Variant report

Variant	rs11727093
Chromosome Location	chr4:210459-210460
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11728456	0.93[AMR][1000 genomes]
rs11731353	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11737729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4518181	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4579063	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4690165	0.83[EUR][1000 genomes]
rs4690243	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7661412	0.90[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011715	chr4:43860-823487	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1001899	chr4:68809-517736	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	esv2830422	chr4:72247-681939	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv532703	chr4:72447-614414	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	nsv931097	chr4:72447-683874	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
6	nsv532702	chr4:72447-755236	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
7	nsv532704	chr4:85040-628550	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
8	nsv1010829	chr4:147570-547070	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv536970	chr4:147570-547070	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 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	chr4:207200-229400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:207600-211000	Weak transcription	Osteobl	bone
3	chr4:207600-214200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:207800-212200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr4:207800-215400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr4:207800-216400	Weak transcription	Placenta	Placenta
7	chr4:207800-217600	Weak transcription	Left Ventricle	heart
8	chr4:207800-235600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:208000-212000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr4:208000-216200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:208000-217200	Weak transcription	Ovary	ovary
12	chr4:208000-219000	Weak transcription	Brain Hippocampus Middle	brain
13	chr4:208000-219000	Weak transcription	Right Ventricle	heart
14	chr4:208000-219800	Weak transcription	NH-A	brain
15	chr4:208000-223000	Weak transcription	Fetal Heart	heart
16	chr4:208200-210600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr4:208200-211600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:208200-211800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr4:208200-219400	Weak transcription	Thymus	Thymus
20	chr4:208400-214600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr4:208600-213800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr4:208600-213800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr4:208800-217600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr4:209000-210600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr4:209000-210600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:209200-212600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr4:209600-228000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr4:209800-211600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr4:209800-211800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr4:210200-213600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr4:210400-211000	Weak transcription	Fetal Lung	lung
32	chr4:210400-211200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr4:210400-217000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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