Variant report

Variant	rs1359725
Chromosome Location	chr11:35027770-35027771
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:35026581..35028709-chr11:35030070..35032050,2	K562	blood:
2	chr11:35026796..35028891-chr11:35159653..35162331,2	MCF-7	breast:
3	chr11:35026967..35028548-chr11:35162664..35165084,2	MCF-7	breast:
4	chr11:35027303..35029685-chr11:35029694..35032602,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000026508	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1117051	0.88[JPT][hapmap];0.80[AMR][1000 genomes]
rs1117445	0.80[AMR][1000 genomes]
rs1326944	0.81[AMR][1000 genomes]
rs1326947	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1409716	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1409717	0.80[AMR][1000 genomes]
rs1509662	0.80[AMR][1000 genomes]
rs1960524	0.88[JPT][hapmap];0.81[AMR][1000 genomes]
rs1991648	0.88[JPT][hapmap];0.80[AMR][1000 genomes]
rs2031686	0.88[JPT][hapmap];0.81[AMR][1000 genomes]
rs2033358	0.80[AMR][1000 genomes]
rs2147341	0.81[AMR][1000 genomes]
rs2732556	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2761823	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2767037	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2915187	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2915189	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2915191	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2915197	0.80[AMR][1000 genomes]
rs2915198	0.88[JPT][hapmap];0.80[AMR][1000 genomes]
rs2915201	0.80[AMR][1000 genomes]
rs2915202	0.80[AMR][1000 genomes]
rs2915203	0.80[AMR][1000 genomes]
rs2915208	0.80[AMR][1000 genomes]
rs2915214	0.88[JPT][hapmap];0.81[AMR][1000 genomes]
rs2915217	0.88[JPT][hapmap];0.80[AMR][1000 genomes]
rs2915218	0.81[AMR][1000 genomes]
rs2915225	0.89[JPT][hapmap];0.80[AMR][1000 genomes]
rs2915226	0.80[AMR][1000 genomes]
rs2915230	0.80[AMR][1000 genomes]
rs2915232	0.80[AMR][1000 genomes]
rs2956077	0.93[CHB][hapmap];0.88[JPT][hapmap];0.81[YRI][hapmap];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2956086	0.88[JPT][hapmap]
rs2956095	0.88[JPT][hapmap]
rs2956097	0.87[JPT][hapmap];0.83[YRI][hapmap];0.81[AMR][1000 genomes]
rs2956098	0.93[JPT][hapmap];0.80[AMR][1000 genomes]
rs2956101	0.80[AMR][1000 genomes]
rs2956109	0.80[AMR][1000 genomes]
rs2956116	0.88[JPT][hapmap];0.81[AMR][1000 genomes]
rs2956118	0.82[CEU][hapmap];0.80[AMR][1000 genomes]
rs2956119	0.80[AMR][1000 genomes]
rs2956120	0.81[AMR][1000 genomes]
rs2956125	0.88[JPT][hapmap];0.80[AMR][1000 genomes]
rs2956126	0.80[AMR][1000 genomes]
rs2956128	0.80[AMR][1000 genomes]
rs2985150	0.93[CHB][hapmap];0.89[JPT][hapmap];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2985382	0.88[JPT][hapmap];0.80[AMR][1000 genomes]
rs2985385	0.81[AMR][1000 genomes]
rs2986402	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2986403	0.93[CHB][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2986405	0.93[CHB][hapmap];0.82[JPT][hapmap];0.80[YRI][hapmap];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2986406	0.93[CHB][hapmap];0.89[JPT][hapmap];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2986407	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2986408	0.88[JPT][hapmap];0.80[AMR][1000 genomes]
rs2986412	0.80[AMR][1000 genomes]
rs2986413	0.89[JPT][hapmap];0.80[AMR][1000 genomes]
rs2986415	0.80[AMR][1000 genomes]
rs2986417	0.80[AMR][1000 genomes]
rs2986421	0.88[JPT][hapmap];0.80[AMR][1000 genomes]
rs3118498	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs496653	0.93[CHB][hapmap];0.93[ASN][1000 genomes]
rs511776	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs520658	0.93[CHB][hapmap];0.88[JPT][hapmap];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs522436	0.90[ASN][1000 genomes]
rs568932	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs724714	0.88[JPT][hapmap];0.80[AMR][1000 genomes]
rs733567	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7808	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs919554	0.80[AMR][1000 genomes]
rs984690	0.88[JPT][hapmap];0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1359725	APIP	cis	multi-tissue	Pritchard
rs1359725	APIP	cis	Lymphoblastoid	GTEx

Chromatin state (count:63 , 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	chr11:35000800-35031000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr11:35007000-35028000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:35007000-35029800	Weak transcription	Esophagus	oesophagus
5	chr11:35007200-35035200	Weak transcription	Fetal Stomach	stomach
6	chr11:35007400-35027800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr11:35008600-35030800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr11:35009000-35028000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr11:35011400-35028200	Weak transcription	HSMMtube	muscle
10	chr11:35017200-35030800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr11:35019800-35035400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr11:35020000-35028000	Weak transcription	Small Intestine	intestine
13	chr11:35020000-35030400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:35020200-35028200	Weak transcription	Fetal Lung	lung
15	chr11:35020200-35028400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr11:35020200-35029800	Weak transcription	NHDF-Ad	bronchial
17	chr11:35021400-35029400	Weak transcription	Hela-S3	cervix
18	chr11:35022000-35028000	Weak transcription	Gastric	stomach
19	chr11:35025400-35029800	Weak transcription	HMEC	breast
20	chr11:35025400-35030800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:35025400-35035200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:35025600-35027800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:35025600-35027800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr11:35025600-35028000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr11:35025600-35028200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr11:35025600-35028200	Weak transcription	HSMM	muscle
27	chr11:35025600-35028200	Weak transcription	NH-A	brain
28	chr11:35025600-35030600	Weak transcription	Osteobl	bone
29	chr11:35025600-35030800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:35025600-35030800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:35025800-35028000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr11:35025800-35028200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:35025800-35030400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr11:35026600-35027800	Enhancers	Liver	Liver
35	chr11:35026600-35028600	Enhancers	NHEK	skin
36	chr11:35026600-35032000	Enhancers	Stomach Mucosa	stomach
37	chr11:35026800-35027800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr11:35026800-35028400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:35026800-35029200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr11:35026800-35030200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr11:35027000-35027800	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr11:35027000-35028000	Weak transcription	Fetal Intestine Small	intestine
43	chr11:35027000-35028000	Weak transcription	Left Ventricle	heart
44	chr11:35027000-35028000	Weak transcription	Pancreas	Pancrea
45	chr11:35027000-35028000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr11:35027000-35028200	Weak transcription	Fetal Muscle Leg	muscle
47	chr11:35027000-35029200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr11:35027000-35029600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr11:35027000-35029600	Weak transcription	Colonic Mucosa	Colon
50	chr11:35027000-35029800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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