Variant report

Variant	rs7936626
Chromosome Location	chr11:10554884-10554885
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: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1047730	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10500727	0.86[ASW][hapmap]
rs11602469	0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11604691	0.98[ASN][1000 genomes]
rs11607008	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11826750	1.00[CHB][hapmap];0.92[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.93[ASN][1000 genomes]
rs12275930	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12290357	0.93[CEU][hapmap];0.90[CHB][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12294022	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2054390	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4909938	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4909940	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4909941	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4910149	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4910150	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4910151	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7123581	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7128848	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7131507	0.90[ASN][1000 genomes]
rs73411920	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7929890	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7938782	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7936626	SNORA45	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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