Variant report

Variant	rs72920721
Chromosome Location	chr11:34815277-34815278
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	chr11:34814107..34816684-chr11:34826234..34828652,3	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10466455	0.81[EUR][1000 genomes]
rs10501135	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10742325	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10742326	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10768093	0.87[EUR][1000 genomes]
rs10768094	0.81[EUR][1000 genomes]
rs10768097	0.81[EUR][1000 genomes]
rs10768099	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10768100	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10836295	0.81[EUR][1000 genomes]
rs10836302	0.81[EUR][1000 genomes]
rs10836303	0.81[EUR][1000 genomes]
rs10836304	0.81[EUR][1000 genomes]
rs10836306	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10836307	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10836310	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10836311	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10836312	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10836314	0.99[ASN][1000 genomes]
rs11032839	0.86[EUR][1000 genomes]
rs11032840	0.81[EUR][1000 genomes]
rs11032849	0.81[EUR][1000 genomes]
rs11032852	0.81[EUR][1000 genomes]
rs11032860	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11032866	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11032867	0.82[ASN][1000 genomes]
rs11032868	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11032870	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11032872	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11032874	0.82[ASN][1000 genomes]
rs11499809	0.81[EUR][1000 genomes]
rs12280698	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12286940	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1396885	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1472975	0.82[EUR][1000 genomes]
rs1509667	0.81[EUR][1000 genomes]
rs1588354	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1605880	0.81[EUR][1000 genomes]
rs2116086	0.99[ASN][1000 genomes]
rs2136508	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2421740	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs483769	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7112043	0.81[EUR][1000 genomes]
rs7122506	0.80[EUR][1000 genomes]
rs7932115	0.99[ASN][1000 genomes]
rs7942593	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7942701	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs906902	0.81[EUR][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	nsv832117	chr11:34639008-34831199	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv832118	chr11:34743123-34903951	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv897214	chr11:34764251-34821948	Weak transcription Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
4	nsv1049551	chr11:34811180-34833640	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs72920721	APIP	cis	Skin Sun Exposed Lower leg	GTEx
rs72920721	APIP	cis	Esophagus Muscularis	GTEx
rs72920721	APIP	cis	lung	GTEx

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34811400-34816000	Weak transcription	Esophagus	oesophagus
2	chr11:34811800-34818800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:34812400-34815400	Enhancers	Liver	Liver
4	chr11:34812400-34815400	Enhancers	HUVEC	blood vessel
5	chr11:34812800-34815600	Enhancers	Brain Substantia Nigra	brain
6	chr11:34812800-34817800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr11:34813200-34815600	Enhancers	Brain Anterior Caudate	brain
8	chr11:34813200-34815600	Enhancers	Brain Cingulate Gyrus	brain
9	chr11:34813200-34815600	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr11:34813800-34818000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:34814000-34815600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:34814000-34815600	Enhancers	Brain Angular Gyrus	brain
13	chr11:34814200-34815600	Enhancers	Fetal Lung	lung
14	chr11:34814200-34820400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:34814600-34816000	Weak transcription	Right Atrium	heart
16	chr11:34814600-34816600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr11:34814600-34817600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr11:34814800-34817000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr11:34814800-34817200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:34815000-34816000	Enhancers	Adipose Nuclei	Adipose
21	chr11:34815000-34816200	Weak transcription	Stomach Mucosa	stomach
22	chr11:34815000-34817600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:34815000-34821200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr11:34815000-34833600	Weak transcription	HepG2	liver
25	chr11:34815200-34815800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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