Variant report

Variant	rs10732882
Chromosome Location	chr11:57111693-57111694
allele	G/T
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	chr11:57111093-57111724	SK-N-MC	brain:	n/a	n/a
2	KAP1	chr11:57111125-57111702	HEK293	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:57109658..57111927-chr11:57120300..57122314,2	K562	blood:
2	chr11:57109377..57112591-chr11:57112819..57115430,3	K562	blood:
3	chr11:57110145..57111927-chr11:57119276..57121800,2	K562	blood:

Variant related genes	Relation type
P2RX3	TF binding region
ENSG00000109991	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10736683	0.81[CHD][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs10750859	0.81[ASN][1000 genomes]
rs10792083	0.81[JPT][hapmap]
rs10792085	0.81[CHD][hapmap];0.81[JPT][hapmap]
rs10896601	0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs10896602	0.81[CHD][hapmap];0.81[JPT][hapmap]
rs10896609	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10896610	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11602501	0.90[CHD][hapmap];0.81[JPT][hapmap];0.83[MKK][hapmap];0.83[ASN][1000 genomes]
rs17573746	0.93[CHD][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs1837974	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1939496	0.82[ASN][1000 genomes]
rs2003065	0.88[ASN][1000 genomes]
rs2013314	0.81[GIH][hapmap]
rs2276042	0.95[CHB][hapmap];0.88[CHD][hapmap];0.81[GIH][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3781901	0.81[ASN][1000 genomes]
rs3781902	0.81[CHD][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs3935069	0.82[ASN][1000 genomes]
rs4570598	0.85[CHB][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs4939129	0.82[ASN][1000 genomes]
rs4939131	0.82[ASN][1000 genomes]
rs4939138	0.81[ASN][1000 genomes]
rs4939140	0.81[GIH][hapmap]
rs55637147	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56077100	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7130020	0.93[CHD][hapmap];0.81[JPT][hapmap];0.81[MKK][hapmap];0.82[ASN][1000 genomes]
rs7931298	0.81[JPT][hapmap]
rs7943915	0.83[ASN][1000 genomes]
rs7948723	0.82[ASN][1000 genomes]
rs879646	0.90[CHB][hapmap];0.88[CHD][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs9667065	0.84[AMR][1000 genomes];0.91[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	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	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv541048	chr11:57076815-57120781	Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10732882	GPR44	cis	parietal	SCAN
rs10732882	OR5AN1	cis	parietal	SCAN
rs10732882	OR5M10	cis	parietal	SCAN
rs10732882	OR4C11	cis	cerebellum	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57104000-57113000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:57104000-57117200	Weak transcription	Right Atrium	heart
3	chr11:57104200-57117000	Weak transcription	Adipose Nuclei	Adipose
4	chr11:57104200-57117000	Weak transcription	Liver	Liver
5	chr11:57104200-57119200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:57106800-57114200	Enhancers	Fetal Brain Male	brain
7	chr11:57107400-57117200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:57107600-57117000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:57108000-57113000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr11:57108400-57113000	Weak transcription	A549	lung
11	chr11:57109400-57112400	Weak transcription	GM12878-XiMat	blood
12	chr11:57109600-57117200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:57110000-57111800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr11:57110000-57114200	Enhancers	Fetal Brain Female	brain
15	chr11:57110200-57111800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:57110200-57112000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr11:57110400-57111800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:57110400-57113200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr11:57110600-57111800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr11:57110600-57111800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr11:57110600-57111800	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr11:57110800-57111800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:57110800-57111800	Enhancers	Fetal Heart	heart
24	chr11:57111000-57112400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:57111200-57111800	Enhancers	K562	blood
26	chr11:57111400-57113000	Weak transcription	Fetal Muscle Leg	muscle
27	chr11:57111400-57113400	Weak transcription	Fetal Muscle Trunk	muscle
28	chr11:57111400-57116800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr11:57111400-57117000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:57111600-57112800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr11:57111600-57113000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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