Variant report

Variant	rs17566499
Chromosome Location	chr18:7930401-7930402
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	chr18:7928564..7930698-chr18:7930899..7932884,2	K562	blood:
2	chr18:7912955..7915835-chr18:7928834..7931488,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs16952755	0.81[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap]
rs16952764	0.90[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap]
rs16952768	0.90[CEU][hapmap];0.81[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.82[MEX][hapmap]
rs17566436	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17566876	0.90[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28704912	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4633833	0.90[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap]
rs60434124	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60647787	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62090937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62090939	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62090940	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6506540	0.83[CHB][hapmap]
rs718274	1.00[CEU][hapmap];0.88[CHB][hapmap];0.82[JPT][hapmap]
rs7228385	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7229479	0.90[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.82[MEX][hapmap]
rs7232132	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7232467	0.90[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7234961	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7237410	1.00[ASW][hapmap];0.81[CEU][hapmap];0.81[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.82[MEX][hapmap]
rs7238517	1.00[CEU][hapmap]
rs7240783	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7241732	0.90[CEU][hapmap];0.81[CHB][hapmap];0.82[JPT][hapmap]
rs7244725	0.81[CEU][hapmap];0.81[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap]
rs8084791	0.90[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.82[MEX][hapmap]
rs8087998	0.81[CHB][hapmap]
rs8089170	0.90[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.82[MEX][hapmap]
rs8096083	0.91[CHB][hapmap]
rs8096085	0.89[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
5	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
6	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
7	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

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7922400-7940600	Weak transcription	Gastric	stomach
2	chr18:7923000-7936200	Weak transcription	Thymus	Thymus
3	chr18:7923400-7932400	Weak transcription	HSMM	muscle
4	chr18:7923400-7937400	Weak transcription	Right Ventricle	heart
5	chr18:7923400-7945800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr18:7923600-7937000	Weak transcription	Adipose Nuclei	Adipose
7	chr18:7923800-7936800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr18:7924400-7940400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr18:7925000-7933000	Weak transcription	Right Atrium	heart
10	chr18:7925000-7936200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr18:7925200-7931800	Weak transcription	HepG2	liver
12	chr18:7925800-7940400	Weak transcription	Fetal Muscle Leg	muscle
13	chr18:7926000-7931800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr18:7926000-7936600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr18:7926200-7936200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr18:7926400-7940200	Weak transcription	Brain Germinal Matrix	brain
17	chr18:7926400-7945200	Weak transcription	Ovary	ovary
18	chr18:7926800-7936600	Weak transcription	Fetal Stomach	stomach
19	chr18:7926800-7945600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr18:7926800-7945800	Weak transcription	Fetal Lung	lung
21	chr18:7927400-7936400	Weak transcription	Aorta	Aorta
22	chr18:7927400-7939800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr18:7927400-7940200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr18:7927800-7936000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr18:7927800-7937400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr18:7927800-7946600	Weak transcription	Fetal Kidney	kidney
27	chr18:7928000-7931800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr18:7928000-7946600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr18:7928200-7937400	Weak transcription	Left Ventricle	heart
30	chr18:7929400-7935800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr18:7929600-7937000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr18:7930400-7930800	Genic enhancers	A549	lung

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