Variant report

Variant	rs11188044
Chromosome Location	chr10:96387079-96387080
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10430657	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10736086	0.88[YRI][hapmap]
rs10882476	0.84[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap]
rs10882487	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11187953	0.94[JPT][hapmap]
rs11187968	0.81[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap]
rs11187969	0.90[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap]
rs11187971	0.81[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap]
rs11187974	0.81[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap]
rs11188066	0.89[ASN][1000 genomes]
rs11527882	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs12220941	0.81[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap]
rs4388808	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs68060620	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7093613	0.84[CEU][hapmap];0.90[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap]
rs7920052	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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	nsv497859	chr10:96058024-97027747	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv517681	chr10:96343228-96387079	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11188044	BTAF1	cis	parietal	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96383000-96387400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr10:96383400-96387800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr10:96383600-96389800	Weak transcription	Fetal Intestine Large	intestine
4	chr10:96383800-96388800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr10:96384400-96387400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr10:96386200-96387400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr10:96386200-96387600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr10:96386200-96387600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr10:96386200-96387600	Enhancers	NHEK	skin
10	chr10:96386200-96388000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr10:96386400-96387200	Enhancers	Fetal Kidney	kidney
12	chr10:96386400-96387600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr10:96386400-96387800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr10:96386600-96387600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr10:96386600-96387800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr10:96386800-96387400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr10:96386800-96392600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr10:96386800-96397800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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Input of quick search could be:

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

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