Variant report

Variant	rs6506570
Chromosome Location	chr18:8287805-8287806
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:8286081..8288713-chr18:8292383..8293972,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10163763	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11876033	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17568213	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];0.93[TSI][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2000645	0.83[CEU][hapmap]
rs2155755	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4798619	0.92[ASW][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.90[LWK][hapmap];0.81[MEX][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6506572	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];0.90[JPT][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7504280	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7505246	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7505593	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9949149	0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9961216	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]

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	nsv458018	chr18:8110805-8645907	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv576426	chr18:8110805-8645907	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1057288	chr18:8218725-8351340	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv543639	chr18:8218725-8351340	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv3351324	chr18:8250514-8405140	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1058445	chr18:8270681-8421249	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8191200-8288600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr18:8245400-8288600	Weak transcription	Aorta	Aorta
3	chr18:8265400-8288400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr18:8265400-8296600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr18:8270800-8297400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr18:8275200-8296400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr18:8280800-8288600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr18:8281400-8288600	Weak transcription	Fetal Heart	heart
9	chr18:8281400-8288800	Weak transcription	Fetal Brain Male	brain
10	chr18:8281600-8288800	Weak transcription	Spleen	Spleen
11	chr18:8284600-8288800	Weak transcription	Adipose Nuclei	Adipose
12	chr18:8284600-8288800	Weak transcription	Fetal Stomach	stomach
13	chr18:8284600-8298800	Weak transcription	HepG2	liver
14	chr18:8284600-8300600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr18:8284800-8296200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr18:8284800-8296400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr18:8284800-8296600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr18:8284800-8301000	Weak transcription	Osteobl	bone
19	chr18:8285600-8292800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr18:8286200-8289200	Enhancers	Fetal Lung	lung
21	chr18:8286400-8288400	Weak transcription	Right Atrium	heart
22	chr18:8286400-8296200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr18:8286400-8298400	Weak transcription	Gastric	stomach
24	chr18:8286600-8291000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr18:8286600-8292000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr18:8286800-8296400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr18:8287000-8289200	Enhancers	Fetal Muscle Leg	muscle
28	chr18:8287200-8289200	Enhancers	Pancreas	Pancrea
29	chr18:8287400-8288400	Enhancers	Fetal Brain Female	brain
30	chr18:8287400-8289000	Enhancers	Psoas Muscle	Psoas
31	chr18:8287400-8289200	Enhancers	Left Ventricle	heart
32	chr18:8287400-8296600	Weak transcription	Thymus	Thymus
33	chr18:8287800-8288800	Weak transcription	Brain Anterior Caudate	brain
34	chr18:8287800-8289200	Enhancers	Lung	lung
35	chr18:8287800-8306800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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