Variant report

Variant	rs948844
Chromosome Location	chr11:57009598-57009599
allele	A/C
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	MXI1	chr11:57007471-57009654	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
APLNR	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10501367	0.86[JPT][hapmap]
rs10736682	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10792079	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11544374	0.86[JPT][hapmap]
rs1893675	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs599947	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7119375	0.86[JPT][hapmap]
rs7928905	0.81[EUR][1000 genomes]
rs948847	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9943582	1.00[CEU][hapmap];0.83[CHB][hapmap];0.94[GIH][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];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	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
3	esv3373066	chr11:57007276-57011574	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs948844	TIMM10	cis	parietal	SCAN
rs948844	OR5M9	cis	cerebellum	SCAN
rs948844	OR8U1	cis	parietal	SCAN
rs948844	MS4A3	cis	cerebellum	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57005200-57009800	Enhancers	K562	blood
2	chr11:57005200-57016400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:57005400-57010000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:57006800-57009600	Enhancers	Liver	Liver
5	chr11:57006800-57010400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:57007000-57010000	Enhancers	A549	lung
7	chr11:57007200-57011400	Enhancers	Fetal Muscle Leg	muscle
8	chr11:57007400-57010400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:57007400-57010400	Enhancers	HSMMtube	muscle
10	chr11:57007600-57010000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:57007600-57010000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:57007600-57010800	Enhancers	Fetal Muscle Trunk	muscle
13	chr11:57007600-57011200	Enhancers	Placenta	Placenta
14	chr11:57007800-57009600	Weak transcription	HSMM	muscle
15	chr11:57007800-57010200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:57008200-57010000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:57008200-57010200	Enhancers	Right Atrium	heart
18	chr11:57008200-57010400	Enhancers	Fetal Stomach	stomach
19	chr11:57008200-57010600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr11:57008400-57010000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:57008400-57011600	Enhancers	Spleen	Spleen
22	chr11:57008800-57016200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr11:57009000-57009600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr11:57009000-57009600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr11:57009000-57009600	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr11:57009000-57010800	Enhancers	Right Ventricle	heart
27	chr11:57009200-57009600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:57009200-57009600	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr11:57009200-57009800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr11:57009200-57009800	Enhancers	Fetal Kidney	kidney
31	chr11:57009200-57010000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:57009200-57010000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:57009200-57010000	Enhancers	Adipose Nuclei	Adipose
34	chr11:57009200-57010000	Enhancers	Gastric	stomach
35	chr11:57009200-57010000	Enhancers	Left Ventricle	heart
36	chr11:57009200-57010200	Enhancers	Ovary	ovary
37	chr11:57009200-57010400	Enhancers	Fetal Lung	lung
38	chr11:57009200-57010400	Enhancers	Lung	lung
39	chr11:57009400-57009600	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr11:57009400-57009600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
41	chr11:57009400-57009600	Enhancers	Brain Anterior Caudate	brain
42	chr11:57009400-57009800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr11:57009400-57010000	Enhancers	Skeletal Muscle Male	skeletal muscle

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