Variant report

Variant	rs4410868
Chromosome Location	chr8:11574802-11574803
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11569983..11572181-chr8:11572898..11575500,3	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11250160	0.80[CHB][hapmap]
rs12550668	0.88[MEX][hapmap]
rs13267318	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13270069	1.00[CEU][hapmap];0.90[CHB][hapmap];0.92[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2409807	0.80[CHB][hapmap];0.87[CHD][hapmap];0.92[JPT][hapmap];0.96[MEX][hapmap];0.92[ASN][1000 genomes]
rs6601604	1.00[CEU][hapmap];0.90[CHB][hapmap];0.87[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.92[TSI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6983129	0.90[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1017865	chr8:11377795-11579954	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4410868	FLJ10661	cis	cerebellum	SCAN
rs4410868	DEFB136	cis	parietal	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11568000-11577600	Weak transcription	Gastric	stomach
2	chr8:11572200-11575000	Weak transcription	Pancreas	Pancrea
3	chr8:11572200-11576600	Enhancers	Fetal Intestine Small	intestine
4	chr8:11572400-11575000	Enhancers	Fetal Heart	heart
5	chr8:11572400-11577400	Weak transcription	Placenta	Placenta
6	chr8:11573200-11576000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:11573800-11575000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
8	chr8:11574000-11575000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:11574000-11575000	Enhancers	Left Ventricle	heart
10	chr8:11574000-11575200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
11	chr8:11574000-11575400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
12	chr8:11574000-11575400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
13	chr8:11574000-11575600	Enhancers	Right Ventricle	heart
14	chr8:11574000-11575800	Bivalent Enhancer	Fetal Intestine Large	intestine
15	chr8:11574000-11576000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
16	chr8:11574000-11577800	Enhancers	Stomach Mucosa	stomach
17	chr8:11574000-11578000	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr8:11574000-11578400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:11574200-11575000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
20	chr8:11574200-11575000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
21	chr8:11574200-11575200	Flanking Active TSS	Right Atrium	heart
22	chr8:11574400-11575200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
23	chr8:11574400-11575200	Bivalent Enhancer	Fetal Lung	lung
24	chr8:11574400-11575400	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
25	chr8:11574400-11576800	Flanking Active TSS	HepG2	liver
26	chr8:11574600-11575000	Enhancers	Liver	Liver
27	chr8:11574600-11575200	Enhancers	Duodenum Mucosa	Duodenum
28	chr8:11574600-11576800	Enhancers	Ovary	ovary

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