Variant report

Variant	rs4612756
Chromosome Location	chr11:93358154-93358155
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	chr11:93356197..93359571-chr11:93360394..93364299,4	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10160552	0.81[TSI][hapmap]
rs10765620	0.80[TSI][hapmap]
rs10831093	0.81[TSI][hapmap]
rs12802772	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1939561	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1939574	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1939575	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2186687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4121453	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs4612756	PIWIL4	cis	parietal	SCAN
rs4612756	C11orf54	cis	cerebellum	SCAN
rs4612756	SCARNA9	cis	parietal	SCAN
rs4612756	MED17	cis	cerebellum	SCAN
rs4612756	ANKRD49	cis	parietal	SCAN
rs4612756	C11orf54	cis	lymphoblastoid	seeQTL
rs4612756	C11orf54	cis	parietal	SCAN
rs4612756	SCARNA9	cis	cerebellum	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93355400-93359200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:93355600-93358800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:93355800-93358400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr11:93355800-93358400	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr11:93355800-93358400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr11:93356000-93359000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr11:93356000-93359200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:93356200-93358800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr11:93356200-93358800	Enhancers	HepG2	liver
10	chr11:93356400-93358400	Enhancers	Fetal Lung	lung
11	chr11:93356400-93358600	Enhancers	Fetal Intestine Large	intestine
12	chr11:93356400-93358800	Enhancers	Fetal Intestine Small	intestine
13	chr11:93356600-93359600	Enhancers	Fetal Brain Male	brain
14	chr11:93356600-93364600	Weak transcription	Pancreas	Pancrea
15	chr11:93357000-93358200	Enhancers	Gastric	stomach
16	chr11:93357000-93358800	Enhancers	Fetal Brain Female	brain
17	chr11:93357200-93358200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:93357400-93358200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr11:93357800-93358200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr11:93357800-93358200	Bivalent Enhancer	HSMM	muscle
21	chr11:93358000-93358200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:93358000-93358200	Enhancers	Right Atrium	heart
23	chr11:93358000-93358200	Flanking Active TSS	HSMMtube	muscle
24	chr11:93358000-93358400	Bivalent Enhancer	K562	blood
25	chr11:93358000-93358600	Enhancers	Fetal Heart	heart

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