Variant report

Variant	rs653652
Chromosome Location	chr18:8329946-8329947
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	chr18:8322556..8325112-chr18:8329390..8331269,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11872468	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11875736	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16953244	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16953299	1.00[CEU][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.81[ASN][1000 genomes]
rs16953309	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.84[ASN][1000 genomes]
rs16953319	0.80[ASN][1000 genomes]
rs16953340	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs16953349	1.00[CEU][hapmap]
rs2000643	1.00[CEU][hapmap]
rs2446498	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2446499	0.82[ASN][1000 genomes]
rs2446503	0.82[EUR][1000 genomes]
rs2509542	0.82[MKK][hapmap]
rs2509543	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35933807	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4798629	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55653524	0.82[ASN][1000 genomes]
rs57165119	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57486401	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58102861	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs592535	1.00[CEU][hapmap];0.89[JPT][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs59726215	0.84[ASN][1000 genomes]
rs598149	1.00[CEU][hapmap];0.89[JPT][hapmap];0.88[TSI][hapmap];0.82[EUR][1000 genomes]
rs603476	0.82[EUR][1000 genomes]
rs606954	1.00[CEU][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes]
rs613113	1.00[CEU][hapmap]
rs62089873	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62089874	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62089877	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62089899	0.84[ASN][1000 genomes]
rs624559	0.82[ASN][1000 genomes]
rs635416	1.00[CEU][hapmap]
rs652740	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs656568	1.00[CEU][hapmap]
rs665525	1.00[CEU][hapmap];0.89[JPT][hapmap];0.88[TSI][hapmap];0.82[EUR][1000 genomes]
rs668262	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs669168	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs681383	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs685266	0.82[EUR][1000 genomes]
rs694406	1.00[CEU][hapmap];0.89[JPT][hapmap];0.88[TSI][hapmap];0.82[EUR][1000 genomes]
rs73396032	0.83[EUR][1000 genomes]
rs73396034	0.87[EUR][1000 genomes]
rs8090276	0.86[CHB][hapmap];0.89[JPT][hapmap];0.82[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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8294200-8341400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr18:8319800-8341600	Weak transcription	Adipose Nuclei	Adipose
3	chr18:8320400-8339400	Weak transcription	Right Ventricle	heart
4	chr18:8320800-8357200	Weak transcription	Thymus	Thymus
5	chr18:8321000-8333800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr18:8321200-8341400	Weak transcription	Lung	lung
7	chr18:8323600-8333800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr18:8325000-8334000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr18:8325800-8341200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr18:8327000-8330000	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr18:8327200-8330000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr18:8327400-8330400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr18:8327400-8330800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr18:8327600-8339400	Weak transcription	Ovary	ovary
15	chr18:8327600-8339600	Weak transcription	Psoas Muscle	Psoas
16	chr18:8327800-8339400	Weak transcription	Left Ventricle	heart
17	chr18:8328000-8342600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr18:8329000-8330400	Enhancers	NHLF	lung
19	chr18:8329000-8341400	Weak transcription	Fetal Stomach	stomach
20	chr18:8329000-8341400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr18:8329400-8330200	Enhancers	Aorta	Aorta
22	chr18:8329400-8330400	Enhancers	Fetal Muscle Leg	muscle
23	chr18:8329600-8330000	Enhancers	A549	lung
24	chr18:8329600-8337400	Weak transcription	Fetal Heart	heart
25	chr18:8329600-8340400	Weak transcription	HSMMtube	muscle
26	chr18:8329600-8358200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr18:8329800-8331800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr18:8329800-8337400	Weak transcription	Stomach Mucosa	stomach
29	chr18:8329800-8365200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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