Variant report

Variant	rs609201
Chromosome Location	chr18:7677822-7677823
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	chr18:7673185..7674687-chr18:7676145..7677987,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11876394	0.89[JPT][hapmap]
rs13381320	0.89[JPT][hapmap]
rs28497003	0.85[ASN][1000 genomes]
rs60600197	0.85[ASN][1000 genomes]
rs7240069	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs8086686	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9946337	0.89[JPT][hapmap]
rs9954075	0.89[JPT][hapmap]
rs9960652	1.00[CHB][hapmap];0.88[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064597	chr18:7169490-7762738	Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv543636	chr18:7169490-7762738	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised 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	8 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7657400-7680600	Weak transcription	Ovary	ovary
2	chr18:7668600-7681400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr18:7668800-7680800	Weak transcription	Gastric	stomach
4	chr18:7669600-7688400	Weak transcription	Aorta	Aorta
5	chr18:7669800-7679400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr18:7671400-7680800	Weak transcription	Small Intestine	intestine
7	chr18:7675600-7678600	Enhancers	Right Atrium	heart
8	chr18:7675800-7678600	Enhancers	Psoas Muscle	Psoas
9	chr18:7676200-7678000	Enhancers	Adipose Nuclei	Adipose
10	chr18:7676200-7678400	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr18:7676200-7678600	Enhancers	Fetal Muscle Leg	muscle
12	chr18:7676400-7678600	Enhancers	Left Ventricle	heart
13	chr18:7676600-7680000	Weak transcription	Pancreas	Pancrea
14	chr18:7676800-7680800	Weak transcription	Colon Smooth Muscle	Colon
15	chr18:7677200-7678600	Enhancers	Placenta	Placenta
16	chr18:7677400-7678200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr18:7677400-7678200	Enhancers	Right Ventricle	heart
18	chr18:7677400-7679600	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr18:7677600-7678200	Enhancers	Spleen	Spleen
20	chr18:7677600-7678400	Enhancers	Lung	lung
21	chr18:7677600-7679000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr18:7677600-7682000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr18:7677600-7682400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr18:7677800-7678000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr18:7677800-7679000	Weak transcription	Fetal Heart	heart

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