Variant report

Variant	rs1350991
Chromosome Location	chr11:10554630-10554631
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:10548650..10551746-chr11:10552608..10557430,5	K562	blood:
2	chr11:10544840..10547633-chr11:10554007..10556925,3	K562	blood:
3	chr11:10545885..10548023-chr11:10551263..10555868,4	K562	blood:
4	chr11:10554356..10555938-chr11:10584656..10587351,2	K562	blood:
5	chr11:10552304..10556337-chr11:10558208..10563308,9	K562	blood:

Variant related genes	Relation type
ENSG00000110315	Chromatin interaction
ENSG00000177112	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10458930	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10458931	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10500725	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10770123	0.83[MEX][hapmap]
rs10770124	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10840432	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10840433	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10840434	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840437	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042865	1.00[CHB][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.82[MEX][hapmap];0.90[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11042866	0.81[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11042868	0.83[CHB][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];0.82[MEX][hapmap];0.90[TSI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11042872	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12448	1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.90[TSI][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1841811	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1993819	0.83[MEX][hapmap]
rs2054391	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3781862	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4146830	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4243915	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4910152	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7126551	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7131588	0.84[CHB][hapmap]
rs728528	0.84[CHB][hapmap];0.88[JPT][hapmap]
rs7932321	0.81[CHD][hapmap]
rs7939044	0.84[CHB][hapmap];0.81[JPT][hapmap]
rs7943804	0.81[CHD][hapmap]
rs9300104	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[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	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv1044011	chr11:10529353-10564450	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs1350991	OLFML1	cis	cerebellum	SCAN
rs1350991	MICAL2	cis	parietal	SCAN
rs1350991	MRVI1	cis	brain	seeQTL
rs1350991	RNF141	cis	parietal	SCAN
rs1350991	WEE1	cis	cerebellum	SCAN
rs1350991	C11orf17	cis	cerebellum	SCAN
rs1350991	GALNTL4	cis	cerebellum	SCAN

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10502600-10560800	Weak transcription	Fetal Brain Male	brain
2	chr11:10522400-10560800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:10525800-10555600	Strong transcription	Primary B cells from peripheral blood	blood
4	chr11:10526400-10561600	Weak transcription	Colonic Mucosa	Colon
5	chr11:10528400-10555800	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr11:10533200-10561600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr11:10533200-10561600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:10533400-10561400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:10533800-10557400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr11:10535600-10556200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr11:10536400-10555600	Strong transcription	Primary B cells from cord blood	blood
12	chr11:10538200-10561600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:10538400-10561600	Weak transcription	Esophagus	oesophagus
14	chr11:10538400-10561600	Weak transcription	Lung	lung
15	chr11:10539400-10555800	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr11:10540200-10555400	Strong transcription	Liver	Liver
17	chr11:10540200-10555600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:10540600-10555600	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr11:10540800-10555200	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr11:10541400-10561600	Weak transcription	Fetal Heart	heart
21	chr11:10541600-10561400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr11:10541600-10562000	Weak transcription	Gastric	stomach
23	chr11:10542200-10561600	Weak transcription	Fetal Stomach	stomach
24	chr11:10544200-10561400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:10546400-10555800	Strong transcription	Fetal Thymus	thymus
26	chr11:10546600-10555400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr11:10546800-10561400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr11:10548600-10556200	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr11:10549200-10561600	Weak transcription	Right Ventricle	heart
30	chr11:10549400-10555800	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr11:10549400-10560800	Weak transcription	Aorta	Aorta
32	chr11:10549400-10560800	Weak transcription	HSMMtube	muscle
33	chr11:10549400-10561400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr11:10549400-10562000	Weak transcription	Spleen	Spleen
35	chr11:10549600-10555800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:10549600-10555800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:10549600-10555800	Strong transcription	Fetal Intestine Large	intestine
38	chr11:10549600-10560600	Weak transcription	Hela-S3	cervix
39	chr11:10549600-10561400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr11:10549600-10561400	Weak transcription	Fetal Intestine Small	intestine
41	chr11:10551000-10561600	Weak transcription	Left Ventricle	heart
42	chr11:10551200-10559400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:10551200-10559800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr11:10551200-10561400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:10551200-10561400	Weak transcription	Fetal Kidney	kidney
46	chr11:10551200-10561400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr11:10551400-10560200	Weak transcription	A549	lung
48	chr11:10551400-10561400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr11:10551400-10561400	Weak transcription	Fetal Brain Female	brain
50	chr11:10551400-10561400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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