Variant report

Variant	rs1443615
Chromosome Location	chr18:7843986-7843987
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10502361	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10502363	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs16952551	1.00[JPT][hapmap]
rs2083561	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2218368	0.86[CHB][hapmap];0.89[JPT][hapmap];0.96[ASN][1000 genomes]
rs28859109	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs331417	0.83[ASN][1000 genomes]
rs56310854	0.96[ASN][1000 genomes]
rs7235300	0.81[JPT][hapmap]
rs8094976	1.00[CEU][hapmap]
rs94312	1.00[CEU][hapmap]
rs9946064	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9947733	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9947984	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9950595	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9953101	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9953491	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9955771	0.96[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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7837800-7844000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr18:7839000-7844000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr18:7840800-7844000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr18:7840800-7844000	Weak transcription	HMEC	breast
5	chr18:7841000-7844000	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr18:7841200-7844200	Weak transcription	Fetal Heart	heart
7	chr18:7842000-7845200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr18:7843400-7844800	ZNF genes & repeats	Fetal Muscle Leg	muscle
9	chr18:7843600-7844000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr18:7843600-7844000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr18:7843600-7844000	Weak transcription	Fetal Lung	lung
12	chr18:7843800-7844000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr18:7843800-7844000	Enhancers	Gastric	stomach
14	chr18:7843800-7844000	Enhancers	Right Atrium	heart
15	chr18:7843800-7844200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr18:7843800-7844200	Enhancers	Left Ventricle	heart
17	chr18:7843800-7844200	Enhancers	Lung	lung
18	chr18:7843800-7844200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
19	chr18:7843800-7844600	ZNF genes & repeats	Aorta	Aorta
20	chr18:7843800-7844800	ZNF genes & repeats	Thymus	Thymus
21	chr18:7843800-7844800	ZNF genes & repeats	A549	lung
22	chr18:7843800-7845000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived

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