Variant report

Variant	rs7395347
Chromosome Location	chr11:9152463-9152464
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:9151966..9154190-chr11:9155190..9157192,2	K562	blood:
2	chr11:9149953..9152541-chr11:9155189..9157810,2	K562	blood:
3	chr11:9110959..9114784-chr11:9149976..9153737,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000264984	Chromatin interaction
ENSG00000175356	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10047438	0.90[ASN][1000 genomes]
rs1039210	0.86[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10769990	0.81[AFR][1000 genomes]
rs10769991	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10769992	0.83[JPT][hapmap]
rs10769993	0.86[CEU][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10769995	0.82[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10769996	0.82[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10840174	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10840175	0.80[AMR][1000 genomes]
rs10840176	1.00[ASN][1000 genomes]
rs10840178	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10840179	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840181	0.82[ASN][1000 genomes]
rs10840182	0.82[ASN][1000 genomes]
rs10840183	0.90[ASN][1000 genomes]
rs10840185	0.84[ASN][1000 genomes]
rs11042195	0.95[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11042199	0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs11604616	0.95[CEU][hapmap];0.85[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1353730	0.92[GIH][hapmap];0.81[TSI][hapmap];0.85[EUR][1000 genomes]
rs17256375	0.86[CHB][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1827011	0.81[CHD][hapmap];0.89[LWK][hapmap];0.85[MKK][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1874822	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1997628	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2133217	0.86[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2291839	0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs2647537	0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs2742556	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2742557	0.85[ASN][1000 genomes]
rs3898554	0.95[CEU][hapmap];0.95[GIH][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4910035	0.85[ASN][1000 genomes]
rs56077948	0.82[ASN][1000 genomes]
rs56216908	0.92[ASN][1000 genomes]
rs7109745	0.87[ASN][1000 genomes]
rs7123970	0.82[CEU][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7128469	0.84[ASN][1000 genomes]
rs7394878	0.86[CHB][hapmap];0.81[CHD][hapmap]
rs7395846	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7925308	0.86[CHB][hapmap]
rs7930507	0.86[CHB][hapmap]
rs7947251	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7948219	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9888257	0.92[JPT][hapmap];0.82[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	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv33264	chr11:9007612-9311131	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv896985	chr11:9013002-9152463	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7395347	OR56A1	cis	cerebellum	SCAN
rs7395347	OR10A6	cis	cerebellum	SCAN

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9113600-9159800	Weak transcription	Right Ventricle	heart
2	chr11:9121800-9154800	Weak transcription	Brain Substantia Nigra	brain
3	chr11:9130800-9153600	Weak transcription	Brain Angular Gyrus	brain
4	chr11:9132000-9153200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr11:9134000-9153000	Weak transcription	Brain Germinal Matrix	brain
6	chr11:9134000-9154000	Weak transcription	Osteobl	bone
7	chr11:9134200-9154000	Weak transcription	NHDF-Ad	bronchial
8	chr11:9134800-9159000	Weak transcription	Brain Hippocampus Middle	brain
9	chr11:9134800-9161200	Weak transcription	Fetal Brain Male	brain
10	chr11:9135200-9152600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr11:9135600-9153000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:9136400-9159200	Weak transcription	Brain Anterior Caudate	brain
13	chr11:9137200-9159000	Weak transcription	Fetal Heart	heart
14	chr11:9141200-9153000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr11:9141400-9153600	Weak transcription	Primary T cells from cord blood	blood
16	chr11:9141400-9153800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr11:9141600-9158400	Weak transcription	Pancreas	Pancrea
18	chr11:9142000-9157200	Weak transcription	NHLF	lung
19	chr11:9142400-9163000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr11:9142600-9153000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr11:9142600-9159000	Weak transcription	Adipose Nuclei	Adipose
22	chr11:9142600-9159200	Weak transcription	Duodenum Mucosa	Duodenum
23	chr11:9142600-9175000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr11:9143000-9152600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:9143000-9154400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:9143000-9155000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:9143400-9159200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:9143400-9161200	Weak transcription	Aorta	Aorta
29	chr11:9143600-9152600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:9143600-9152800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr11:9143600-9159000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr11:9143800-9152600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr11:9143800-9158800	Weak transcription	Fetal Brain Female	brain
34	chr11:9144400-9161200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr11:9144800-9153400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr11:9145400-9156800	Weak transcription	Placenta	Placenta
37	chr11:9146000-9152800	Weak transcription	Fetal Muscle Leg	muscle
38	chr11:9146000-9157400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr11:9146400-9154800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr11:9146400-9158400	Weak transcription	Gastric	stomach
41	chr11:9146400-9159200	Weak transcription	K562	blood
42	chr11:9146600-9158800	Weak transcription	Lung	lung
43	chr11:9147000-9158800	Weak transcription	A549	lung
44	chr11:9147400-9152800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr11:9148400-9153000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr11:9148400-9158400	Weak transcription	GM12878-XiMat	blood
47	chr11:9148400-9159000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr11:9148400-9159000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr11:9148400-9159200	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr11:9148600-9159000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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