Variant report

Variant	rs12418581
Chromosome Location	chr11:9442388-9442389
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:9405090..9407610-chr11:9440133..9443604,3	MCF-7	breast:
2	chr11:9386147..9387677-chr11:9442254..9444555,2	K562	blood:

Variant related genes	Relation type
ENSG00000205339	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10770026	0.95[ASN][1000 genomes]
rs10770027	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap]
rs10840227	0.82[ASN][1000 genomes]
rs10840228	0.83[MEX][hapmap]
rs10840229	0.95[ASN][1000 genomes]
rs10840230	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10840233	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10840235	0.81[AMR][1000 genomes]
rs10840245	0.81[ASW][hapmap]
rs11042330	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11042338	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11042343	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11042348	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11042349	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11608024	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12225755	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12790938	0.94[ASN][1000 genomes]
rs12797567	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12800802	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12801513	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12801924	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12804650	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34177710	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41369549	0.82[GIH][hapmap]
rs4810	0.81[ASW][hapmap];0.82[GIH][hapmap]
rs4910051	0.91[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];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4910465	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7104568	0.82[GIH][hapmap]
rs7115477	1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[JPT][hapmap];0.83[MEX][hapmap];0.92[ASN][1000 genomes]
rs7128033	0.95[ASN][1000 genomes]
rs7480253	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7480643	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.94[ASN][1000 genomes]

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	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12418581	OR5P2	cis	cerebellum	SCAN
rs12418581	IPO7	Cis_1M	lymphoblastoid	RTeQTL
rs12418581	TEAD1	cis	cerebellum	SCAN

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	chr11:9416000-9456000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:9419200-9446600	Weak transcription	Small Intestine	intestine
4	chr11:9419600-9471000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:9419800-9444200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr11:9420600-9450400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:9421000-9471200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:9423000-9470400	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr11:9424200-9470400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr11:9424800-9468600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr11:9424800-9469000	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr11:9424800-9470600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:9425000-9468200	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr11:9425000-9468400	Strong transcription	H1 Cell Line	embryonic stem cell
15	chr11:9425200-9467200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:9425600-9446800	Weak transcription	Colonic Mucosa	Colon
17	chr11:9425800-9468000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:9426200-9471600	Strong transcription	Dnd41	blood
19	chr11:9426400-9443000	Strong transcription	Hela-S3	cervix
20	chr11:9426800-9468400	Strong transcription	Primary B cells from peripheral blood	blood
21	chr11:9426800-9470600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr11:9427200-9466800	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr11:9427600-9471000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr11:9429800-9443000	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr11:9429800-9469000	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr11:9430200-9459600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr11:9430200-9470200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:9430400-9457400	Strong transcription	A549	lung
29	chr11:9430400-9468200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr11:9431000-9453000	Strong transcription	Muscle Satellite Cultured Cells	--
31	chr11:9431200-9443600	Weak transcription	Gastric	stomach
32	chr11:9431600-9449200	Weak transcription	Fetal Heart	heart
33	chr11:9431800-9468800	Weak transcription	Stomach Mucosa	stomach
34	chr11:9432800-9450400	Weak transcription	Spleen	Spleen
35	chr11:9433000-9446800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr11:9433000-9449600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr11:9433000-9464000	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr11:9433200-9442600	Weak transcription	Lung	lung
39	chr11:9433200-9443400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:9433200-9443400	Weak transcription	Pancreas	Pancrea
41	chr11:9433200-9444000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr11:9433200-9448600	Weak transcription	Brain Angular Gyrus	brain
43	chr11:9433200-9451400	Weak transcription	Aorta	Aorta
44	chr11:9433400-9444400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr11:9433800-9442400	Strong transcription	HMEC	breast
46	chr11:9434800-9470400	Strong transcription	Osteobl	bone
47	chr11:9435200-9442800	Strong transcription	HSMM	muscle
48	chr11:9435400-9466600	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr11:9435400-9470400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr11:9436000-9450000	Strong transcription	Liver	Liver

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