Variant report

Variant	rs11032973
Chromosome Location	chr11:35033098-35033099
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:35028741..35031427-chr11:35032787..35035913,3	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10488801	0.86[JPT][hapmap]
rs10488803	0.88[JPT][hapmap]
rs10488804	0.88[JPT][hapmap]
rs10488806	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs1049306	0.86[JPT][hapmap]
rs1049307	0.86[JPT][hapmap]
rs11032927	0.86[JPT][hapmap]
rs11032937	0.85[CHB][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs11032938	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs11032940	0.82[CHB][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs11032941	0.82[CHB][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs11032942	0.85[CHB][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs11032943	0.85[CHB][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs11500297	0.88[JPT][hapmap]
rs12273271	0.88[JPT][hapmap]
rs12274383	0.80[ASN][1000 genomes]
rs12274490	0.80[ASN][1000 genomes]
rs12275620	0.88[JPT][hapmap]
rs12275911	0.85[CHB][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs12276735	0.88[JPT][hapmap]
rs12278245	0.88[JPT][hapmap]
rs12282382	0.80[ASN][1000 genomes]
rs12282419	0.80[ASN][1000 genomes]
rs12283763	0.88[JPT][hapmap]
rs12286538	0.86[JPT][hapmap]
rs12288594	1.00[JPT][hapmap]
rs12292719	0.88[JPT][hapmap]
rs12293733	0.86[JPT][hapmap]
rs12294125	0.84[JPT][hapmap];0.80[ASN][1000 genomes]
rs3763926	0.88[JPT][hapmap]
rs3763931	0.86[JPT][hapmap]
rs3763933	0.86[JPT][hapmap]
rs3763934	0.86[JPT][hapmap]
rs3763937	0.86[JPT][hapmap]
rs3794165	0.88[JPT][hapmap]
rs3794170	0.86[JPT][hapmap]
rs3818393	0.86[JPT][hapmap]
rs3818401	0.88[JPT][hapmap]
rs57795451	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6484746	0.86[JPT][hapmap]
rs7102259	0.88[JPT][hapmap]
rs7110223	0.86[JPT][hapmap]
rs7111607	0.86[JPT][hapmap]
rs7113708	0.86[JPT][hapmap]
rs7126659	0.86[JPT][hapmap]
rs7129830	0.86[JPT][hapmap]
rs7931454	0.88[JPT][hapmap]
rs7938962	0.86[JPT][hapmap]
rs7941930	0.86[JPT][hapmap]
rs7947650	0.85[CHB][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs7952208	0.85[CHB][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045837	chr11:34893992-35395190	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv430371	chr11:34975067-35111292	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	esv1826391	chr11:35000983-35098193	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv897215	chr11:35009233-35048359	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
5	nsv540999	chr11:35021936-35185471	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	esv2758263	chr11:35029933-35226784	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers 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 miRNA target site	25 gene(s)	inside rSNPs	diseases
7	esv2759818	chr11:35029933-35238578	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs11032973	APIP	cis	Skin Sun Exposed Lower leg	GTEx
rs11032973	APIP	cis	Adipose Subcutaneous	GTEx
rs11032973	PDHX	cis	Muscle Skeletal	GTEx
rs11032973	APIP	cis	Esophagus Mucosa	GTEx
rs11032973	APIP	cis	Muscle Skeletal	GTEx
rs11032973	APIP	cis	lung	GTEx

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35000600-35035000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:35007200-35035200	Weak transcription	Fetal Stomach	stomach
3	chr11:35019800-35035400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr11:35025400-35035200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:35028200-35033200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr11:35028400-35033800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr11:35028400-35039600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr11:35028600-35033200	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr11:35028600-35033600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr11:35028600-35051600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr11:35029200-35033200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr11:35029200-35033200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr11:35029200-35033400	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr11:35029200-35033400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr11:35029200-35033600	Weak transcription	Primary B cells from cord blood	blood
16	chr11:35029200-35033800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr11:35029200-35033800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr11:35029600-35033200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr11:35029600-35036200	Enhancers	Fetal Muscle Leg	muscle
20	chr11:35029800-35033600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:35029800-35034200	Enhancers	NHDF-Ad	bronchial
22	chr11:35030000-35035000	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr11:35030000-35035000	Weak transcription	Adipose Nuclei	Adipose
24	chr11:35030000-35037400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:35030200-35033200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr11:35030400-35033200	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr11:35030400-35033200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr11:35030400-35033400	Enhancers	Muscle Satellite Cultured Cells	--
29	chr11:35030400-35033600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:35030400-35036000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr11:35030600-35033400	Enhancers	Osteobl	bone
32	chr11:35030800-35034400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr11:35031200-35033200	Weak transcription	Placenta	Placenta
34	chr11:35031200-35033800	Weak transcription	Thymus	Thymus
35	chr11:35031200-35034800	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr11:35031400-35035400	Weak transcription	Colon Smooth Muscle	Colon
37	chr11:35031600-35033800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr11:35031600-35033800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr11:35031600-35035400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr11:35031600-35035400	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr11:35031800-35033200	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr11:35031800-35033200	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr11:35031800-35033800	Weak transcription	Colonic Mucosa	Colon
44	chr11:35031800-35035000	Weak transcription	Rectal Smooth Muscle	rectum
45	chr11:35031800-35035000	Weak transcription	NH-A	brain
46	chr11:35032000-35035000	Weak transcription	Stomach Mucosa	stomach
47	chr11:35032200-35033800	Weak transcription	Duodenum Mucosa	Duodenum
48	chr11:35032200-35035000	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr11:35032200-35035600	Weak transcription	HSMM	muscle
50	chr11:35032200-35035800	Weak transcription	HSMMtube	muscle

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