Variant report

Variant	rs2509542
Chromosome Location	chr18:8330674-8330675
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	chr18:8322556..8325112-chr18:8329390..8331269,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11876223	1.00[EUR][1000 genomes]
rs11877698	1.00[EUR][1000 genomes]
rs4798630	0.87[YRI][hapmap]
rs628775	1.00[MEX][hapmap]
rs631700	0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs639197	1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs639640	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs647829	1.00[MEX][hapmap]
rs652740	0.95[YRI][hapmap]
rs653652	0.82[MKK][hapmap]
rs668262	0.86[YRI][hapmap]
rs7240753	1.00[EUR][1000 genomes]
rs73939439	0.86[EUR][1000 genomes]
rs9962195	1.00[EUR][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:27 , 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	chr18:8327400-8330800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr18:8327600-8339400	Weak transcription	Ovary	ovary
12	chr18:8327600-8339600	Weak transcription	Psoas Muscle	Psoas
13	chr18:8327800-8339400	Weak transcription	Left Ventricle	heart
14	chr18:8328000-8342600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr18:8329000-8341400	Weak transcription	Fetal Stomach	stomach
16	chr18:8329000-8341400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr18:8329600-8337400	Weak transcription	Fetal Heart	heart
18	chr18:8329600-8340400	Weak transcription	HSMMtube	muscle
19	chr18:8329600-8358200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr18:8329800-8331800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr18:8329800-8337400	Weak transcription	Stomach Mucosa	stomach
22	chr18:8329800-8365200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr18:8330000-8337200	Weak transcription	A549	lung
24	chr18:8330400-8339400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr18:8330400-8341600	Weak transcription	Fetal Muscle Leg	muscle
26	chr18:8330600-8330800	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr18:8330600-8341400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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