Variant report

Variant	rs11250113
Chromosome Location	chr8:10907479-10907480
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10887222..10889685-chr8:10905766..10908616,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11250112	0.89[EUR][1000 genomes]
rs11777486	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11781155	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11985603	0.92[CHB][hapmap];0.91[MEX][hapmap];0.87[AMR][1000 genomes]
rs13251510	0.93[AMR][1000 genomes]
rs2409685	0.85[CEU][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28447601	0.81[ASN][1000 genomes]
rs34440473	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4326351	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4489292	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841483	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4841485	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62490742	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62490743	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6601555	0.85[AMR][1000 genomes]
rs6987767	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7016414	0.93[AMR][1000 genomes]
rs7016760	0.84[CHB][hapmap];0.92[CHD][hapmap]
rs7462014	0.81[CHD][hapmap];0.86[JPT][hapmap]
rs7462931	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7839902	0.84[CHB][hapmap]

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	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1022434	chr8:10866242-10916523	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs11250113	C8orf5	Cis_1M	lymphoblastoid	RTeQTL
rs11250113	DEFB134	cis	cerebellum	SCAN
rs11250113	FLJ10661	cis	parietal	SCAN
rs11250113	MFHAS1	cis	cerebellum	SCAN
rs11250113	FAM167A	cis	lymphoblastoid	seeQTL
rs11250113	BLK	Cis_1M	lymphoblastoid	RTeQTL
rs11250113	CTSB	cis	cerebellum	SCAN
rs11250113	TDH	cis	cerebellum	SCAN
rs11250113	DEFB136	cis	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10889800-10910800	Weak transcription	HSMMtube	muscle
2	chr8:10905000-10908000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:10905000-10908400	Enhancers	H1 Cell Line	embryonic stem cell
4	chr8:10905200-10907600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr8:10905400-10907800	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr8:10905400-10908400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:10905600-10909000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:10906000-10907600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr8:10906200-10907600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:10906200-10907800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr8:10906200-10908000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr8:10906400-10908000	Enhancers	H9 Cell Line	embryonic stem cell
13	chr8:10906600-10907600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:10906600-10908400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:10906600-10912000	Weak transcription	Spleen	Spleen
16	chr8:10907000-10907600	Enhancers	Ovary	ovary
17	chr8:10907000-10912000	Weak transcription	Fetal Thymus	thymus
18	chr8:10907400-10907600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:10907400-10907800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr8:10907400-10907800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
21	chr8:10907400-10907800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr8:10907400-10907800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr8:10907400-10907800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:10907400-10907800	Bivalent Enhancer	Fetal Brain Male	brain
25	chr8:10907400-10908000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr8:10907400-10916200	Weak transcription	Brain Germinal Matrix	brain

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