Variant report

Variant	rs977434
Chromosome Location	chr18:28905217-28905218
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	chr18:28902016..28904959-chr18:28905023..28907896,2	K562	blood:

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10163619	0.85[EUR][1000 genomes]
rs10164077	0.89[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs10438909	0.80[EUR][1000 genomes]
rs10438930	0.82[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs11081687	0.81[CEU][hapmap]
rs11081690	0.85[EUR][1000 genomes]
rs11081691	0.81[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs1154850	0.89[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs1154851	0.85[EUR][1000 genomes]
rs11660608	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs11663622	0.89[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs11663676	1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs11872734	0.89[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs11875510	0.88[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs11875560	0.89[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs11876846	0.85[CEU][hapmap]
rs12607370	0.82[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs12962355	0.82[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs12963302	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs12967407	0.89[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs1426309	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs1426310	0.82[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs1426311	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs1834582	0.80[EUR][1000 genomes]
rs2007149	1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs2114269	0.89[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs2162272	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2162273	0.89[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs2199301	0.89[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs2219582	0.85[EUR][1000 genomes]
rs2219583	1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs2303465	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2901124	0.89[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs2901125	1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs34248946	0.84[EUR][1000 genomes]
rs35257361	0.85[EUR][1000 genomes]
rs35382145	0.85[EUR][1000 genomes]
rs3810007	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs3810008	1.00[JPT][hapmap]
rs4356544	0.83[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs4399610	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62090169	0.80[EUR][1000 genomes]
rs62090172	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6506914	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs6506915	0.83[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs6506916	0.83[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs6506917	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7229263	0.89[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7231346	0.85[EUR][1000 genomes]
rs7233743	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs7234662	0.86[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs7234854	0.82[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs7235354	0.82[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs7235951	0.92[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs7235975	0.89[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs7236225	0.89[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs7236309	0.80[EUR][1000 genomes]
rs7236327	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7236370	0.85[EUR][1000 genomes]
rs7237370	0.89[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs7237383	0.89[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs7237419	0.89[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs765054	1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs8087410	0.83[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs8087621	0.80[EUR][1000 genomes]
rs8088418	0.80[EUR][1000 genomes]
rs8091151	0.89[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs8091579	1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs8091847	0.83[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs8091934	0.80[EUR][1000 genomes]
rs8095423	0.83[CEU][hapmap]
rs930963	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9947296	1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs9947444	0.83[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs9948210	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs9948589	0.86[CEU][hapmap];0.88[CHB][hapmap]
rs9948802	0.87[CEU][hapmap];0.88[CHB][hapmap]
rs9948963	0.88[CHB][hapmap]
rs9950209	1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs9950622	0.89[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs9951341	1.00[JPT][hapmap]
rs9956026	0.89[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs9959406	0.88[CEU][hapmap];0.80[EUR][1000 genomes]
rs9962740	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066692	chr18:28856066-29190505	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv543674	chr18:28856066-29190505	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv916545	chr18:28898800-29166364	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28899600-28927200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr18:28904400-28905600	Enhancers	Hela-S3	cervix
3	chr18:28904400-28905800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr18:28904400-28905800	Enhancers	Liver	Liver
5	chr18:28904400-28905800	Enhancers	NH-A	brain
6	chr18:28904600-28905600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr18:28904600-28905600	Enhancers	Adipose Nuclei	Adipose
8	chr18:28904600-28905600	Enhancers	NHEK	skin
9	chr18:28904600-28905800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr18:28904600-28905800	Enhancers	Osteobl	bone
11	chr18:28904800-28905400	Enhancers	A549	lung
12	chr18:28904800-28908200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr18:28904800-28933800	Weak transcription	Esophagus	oesophagus
14	chr18:28905200-28905400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr18:28905200-28905400	Enhancers	Gastric	stomach
16	chr18:28905200-28905600	Enhancers	H1 Cell Line	embryonic stem cell
17	chr18:28905200-28905600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr18:28905200-28905600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr18:28905200-28905600	Enhancers	Aorta	Aorta

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