Variant report

Variant	rs1313578
Chromosome Location	chr18:28577747-28577748
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11081674	0.86[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11081675	0.82[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12373365	0.86[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs12606278	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12607476	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs12607553	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs1313577	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1313579	0.80[ASN][1000 genomes]
rs1313581	0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1313587	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs1313589	1.00[JPT][hapmap]
rs1313591	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1313595	0.82[JPT][hapmap]
rs1313692	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs1314625	1.00[JPT][hapmap]
rs1602895	0.86[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1789068	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs1789069	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56020661	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833613	chr18:28446454-28623599	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv909515	chr18:28556767-28584556	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28566200-28600600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr18:28572600-28579000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr18:28573000-28580200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr18:28573200-28590600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr18:28573400-28578000	Strong transcription	NHEK	skin
6	chr18:28573400-28591000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr18:28573800-28580800	Strong transcription	HMEC	breast
8	chr18:28575000-28578600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr18:28575400-28585200	Weak transcription	Esophagus	oesophagus
10	chr18:28576400-28578200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr18:28576800-28577800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr18:28576800-28578000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr18:28576800-28578200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr18:28576800-28578200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr18:28577000-28578000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr18:28577200-28578000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr18:28577400-28579200	Strong transcription	Placenta Amnion	Placenta Amnion

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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