Variant report

Variant	rs727952
Chromosome Location	chr18:7840952-7840953
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16952564	1.00[CHB][hapmap];0.86[JPT][hapmap];0.97[ASN][1000 genomes]
rs16952566	1.00[CHB][hapmap];0.88[JPT][hapmap];0.97[ASN][1000 genomes]
rs4356548	1.00[ASN][1000 genomes]
rs4572487	1.00[CHB][hapmap];0.88[JPT][hapmap];0.97[ASN][1000 genomes]
rs59483663	0.97[ASN][1000 genomes]
rs7244492	1.00[ASN][1000 genomes]
rs9948485	0.88[JPT][hapmap];0.83[ASN][1000 genomes]

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	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv458016	chr18:7488133-7934001	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv576399	chr18:7488133-7934001	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2762810	chr18:7492090-7924728	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1062911	chr18:7561991-8088274	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv543637	chr18:7561991-8088274	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1064345	chr18:7562051-8088274	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv543638	chr18:7562051-8088274	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv576425	chr18:7747873-7859757	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7815400-7843800	Weak transcription	A549	lung
2	chr18:7830800-7843800	Weak transcription	Aorta	Aorta
3	chr18:7837200-7841200	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr18:7837400-7841200	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr18:7837600-7841800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr18:7837800-7844000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr18:7839000-7841200	Enhancers	Fetal Heart	heart
8	chr18:7839000-7844000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr18:7839600-7841000	Enhancers	Fetal Brain Female	brain
10	chr18:7839800-7841200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr18:7839800-7841200	Enhancers	Thymus	Thymus
12	chr18:7839800-7843800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr18:7839800-7843800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr18:7840000-7843400	Weak transcription	Fetal Muscle Leg	muscle
15	chr18:7840000-7843800	Weak transcription	Left Ventricle	heart
16	chr18:7840000-7843800	Weak transcription	Lung	lung
17	chr18:7840200-7841200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr18:7840200-7841200	Enhancers	HUVEC	blood vessel
19	chr18:7840200-7843800	Weak transcription	Gastric	stomach
20	chr18:7840400-7841000	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr18:7840400-7841000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr18:7840400-7841200	Enhancers	Primary T cells from cord blood	blood
23	chr18:7840400-7841200	Enhancers	Colon Smooth Muscle	Colon
24	chr18:7840400-7841200	Enhancers	NHEK	skin
25	chr18:7840600-7842000	Weak transcription	Psoas Muscle	Psoas
26	chr18:7840600-7843800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr18:7840600-7843800	Weak transcription	Right Atrium	heart
28	chr18:7840800-7842000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr18:7840800-7843600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr18:7840800-7844000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr18:7840800-7844000	Weak transcription	HMEC	breast

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