Variant report

Variant	rs7104568
Chromosome Location	chr11:9457344-9457345
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:9457115-9458046	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr11:9456158-9457607	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:9456915..9461096-chr11:9478684..9483209,4	K562	blood:
2	chr11:9456044..9460247-chr11:9478772..9482798,6	K562	blood:

Variant related genes	Relation type
ENSG00000254397	TF binding region
ENSG00000268403	Chromatin interaction
ENSG00000166478	Chromatin interaction

Extended variants
information (count: 107 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs1020621	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1020622	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10437665	0.81[JPT][hapmap]
rs10743107	0.90[ASN][1000 genomes]
rs10770027	0.82[GIH][hapmap]
rs10770028	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10770029	0.89[ASN][1000 genomes]
rs10770032	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10770033	1.00[ASN][1000 genomes]
rs10770034	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10770037	0.84[MEX][hapmap]
rs10840228	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10840234	1.00[CHB][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs10840235	0.84[CHD][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs10840236	0.93[ASN][1000 genomes]
rs10840237	0.98[ASN][1000 genomes]
rs10840238	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10840241	0.87[ASN][1000 genomes]
rs10840243	0.95[JPT][hapmap];0.84[MEX][hapmap];0.89[ASN][1000 genomes]
rs10840244	0.82[ASN][1000 genomes]
rs10840245	0.89[ASW][hapmap];0.96[CEU][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10840247	0.85[ASN][1000 genomes]
rs10840249	0.81[ASN][1000 genomes]
rs10840253	0.81[CEU][hapmap];0.86[JPT][hapmap];0.83[MEX][hapmap]
rs11042328	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11042329	1.00[CHB][hapmap];0.94[CHD][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs11042343	0.82[GIH][hapmap]
rs11042348	0.97[ASN][1000 genomes]
rs11042349	0.94[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11042350	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11042353	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042355	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042356	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042366	0.94[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.90[ASN][1000 genomes]
rs11042374	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11042377	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11042393	0.82[EUR][1000 genomes]
rs11042395	0.92[CEU][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11601316	0.80[EUR][1000 genomes]
rs11824009	0.83[YRI][hapmap]
rs11826606	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12225755	0.94[ASN][1000 genomes]
rs12271897	0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12282176	1.00[ASN][1000 genomes]
rs12296039	0.96[ASN][1000 genomes]
rs12418581	0.82[GIH][hapmap]
rs12792161	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12795344	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12797567	0.97[ASN][1000 genomes]
rs12799672	0.87[ASN][1000 genomes]
rs12800802	0.92[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs12806418	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1377667	0.82[ASN][1000 genomes]
rs1470896	0.82[ASN][1000 genomes]
rs1543	0.82[ASN][1000 genomes]
rs17258462	0.81[CEU][hapmap]
rs1968717	0.86[ASN][1000 genomes]
rs2278900	0.96[CEU][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2290423	0.87[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.80[MEX][hapmap];0.95[ASN][1000 genomes]
rs2290424	0.92[CEU][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.80[TSI][hapmap];0.81[ASN][1000 genomes]
rs2290425	0.92[CEU][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35781320	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3763874	0.85[CEU][hapmap];0.96[MEX][hapmap]
rs3763877	0.82[ASN][1000 genomes]
rs41369549	0.90[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4625466	0.95[JPT][hapmap]
rs4810	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910048	0.81[JPT][hapmap]
rs4910051	0.82[ASW][hapmap];0.82[GIH][hapmap]
rs4910053	0.96[CEU][hapmap];0.95[JPT][hapmap]
rs4910468	0.82[ASN][1000 genomes]
rs6486306	0.86[ASN][1000 genomes]
rs6486307	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6486359	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486361	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6486394	0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs67548305	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68060819	0.82[ASN][1000 genomes]
rs7102473	0.86[ASN][1000 genomes]
rs7103931	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7114824	0.92[ASN][1000 genomes]
rs7115556	1.00[YRI][hapmap]
rs7122252	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.99[ASN][1000 genomes]
rs7122499	0.88[ASN][1000 genomes]
rs723297	0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs727405	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs729313	0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs7395411	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7483667	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7926589	0.95[JPT][hapmap];0.84[MEX][hapmap];0.82[ASN][1000 genomes]
rs7927350	0.94[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.80[MEX][hapmap];0.85[ASN][1000 genomes]
rs7928823	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7928945	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7932192	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7933621	0.86[ASN][1000 genomes]
rs7939724	0.83[MEX][hapmap]
rs7944435	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7944578	0.94[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.80[MEX][hapmap];0.92[ASN][1000 genomes]
rs7949973	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8785	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[ASN][1000 genomes]
rs9667574	0.92[ASN][1000 genomes]
rs972594	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs9787851	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1055078	chr11:9252857-9538877	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv427882	chr11:9431600-9626580	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv1039537	chr11:9455387-9535970	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7104568	SNORA23	cis	cerebellum	SCAN
rs7104568	SNORA23	cis	parietal	SCAN
rs7104568	IPO7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9407600-9464000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:9419600-9471000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr11:9421000-9471200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:9423000-9470400	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr11:9424200-9470400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr11:9424800-9468600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr11:9424800-9469000	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr11:9424800-9470600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr11:9425000-9468200	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr11:9425000-9468400	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr11:9425200-9467200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:9425800-9468000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:9426200-9471600	Strong transcription	Dnd41	blood
14	chr11:9426800-9468400	Strong transcription	Primary B cells from peripheral blood	blood
15	chr11:9426800-9470600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr11:9427200-9466800	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr11:9427600-9471000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr11:9429800-9469000	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr11:9430200-9459600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:9430200-9470200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:9430400-9457400	Strong transcription	A549	lung
22	chr11:9430400-9468200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:9431800-9468800	Weak transcription	Stomach Mucosa	stomach
24	chr11:9433000-9464000	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr11:9434800-9470400	Strong transcription	Osteobl	bone
26	chr11:9435400-9466600	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr11:9435400-9470400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:9439400-9468200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr11:9439600-9467600	Strong transcription	Placenta	Placenta
30	chr11:9439600-9468000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr11:9439600-9472000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr11:9439800-9467000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr11:9439800-9468200	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr11:9439800-9470200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr11:9439800-9470600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:9440000-9465600	Strong transcription	NH-A	brain
37	chr11:9440000-9466200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr11:9440000-9470800	Strong transcription	Fetal Thymus	thymus
39	chr11:9440200-9466600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr11:9440200-9468200	Strong transcription	Duodenum Mucosa	Duodenum
41	chr11:9440200-9468400	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr11:9440200-9470400	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr11:9441600-9466800	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr11:9441600-9468200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:9441800-9465400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
46	chr11:9442000-9466800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr11:9443600-9465600	Strong transcription	Brain Anterior Caudate	brain
48	chr11:9443600-9470200	Strong transcription	HSMM	muscle
49	chr11:9443800-9463600	Strong transcription	HMEC	breast
50	chr11:9443800-9465400	Strong transcription	Hela-S3	cervix

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