Variant report

Variant	rs7119375
Chromosome Location	chr11:57005964-57005965
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	GATA3	chr11:57005962-57006145	SH-SY5Y	brain:	n/a	n/a
2	POLR2A	chr11:57005926-57006545	K562	blood:	n/a	n/a

Variant related genes	Relation type
APLNR	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10501367	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];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10736682	0.86[JPT][hapmap]
rs11544374	1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17651610	0.84[EUR][1000 genomes]
rs1893675	0.86[JPT][hapmap]
rs948844	0.86[JPT][hapmap]
rs948847	0.86[JPT][hapmap]
rs9943582	0.82[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.94[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	nsv915640	chr11:56814841-57139786	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv482317	chr11:56857026-57028631	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7119375	OR5T1	cis	cerebellum	SCAN
rs7119375	OR8U1	cis	parietal	SCAN
rs7119375	SLC43A3	cis	cerebellum	SCAN
rs7119375	OR5AN1	cis	parietal	SCAN

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:56999200-57007800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr11:57003200-57007400	Weak transcription	HSMMtube	muscle
3	chr11:57004200-57009200	Weak transcription	Gastric	stomach
4	chr11:57004400-57006800	Weak transcription	Liver	Liver
5	chr11:57004600-57006000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr11:57004600-57006200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr11:57004600-57007200	Weak transcription	Brain Anterior Caudate	brain
8	chr11:57004800-57006000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:57004800-57006000	Enhancers	Spleen	Spleen
10	chr11:57004800-57007000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr11:57005000-57009200	Weak transcription	Fetal Lung	lung
12	chr11:57005200-57007200	Weak transcription	Fetal Muscle Leg	muscle
13	chr11:57005200-57008200	Weak transcription	Right Atrium	heart
14	chr11:57005200-57009000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr11:57005200-57009200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:57005200-57009200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:57005200-57009200	Weak transcription	Adipose Nuclei	Adipose
18	chr11:57005200-57009200	Weak transcription	Left Ventricle	heart
19	chr11:57005200-57009200	Weak transcription	Lung	lung
20	chr11:57005200-57009800	Enhancers	K562	blood
21	chr11:57005200-57016400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr11:57005400-57007400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:57005400-57007600	Weak transcription	Placenta	Placenta
24	chr11:57005400-57007800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr11:57005400-57008200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr11:57005400-57008400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:57005400-57008400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr11:57005400-57010000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr11:57005600-57006000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr11:57005600-57006200	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr11:57005600-57006200	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr11:57005600-57007600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr11:57005600-57009200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr11:57005800-57006000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr11:57005800-57006000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:57005800-57006000	Enhancers	A549	lung
37	chr11:57005800-57006800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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