Variant report

Variant	rs12273153
Chromosome Location	chr11:34956291-34956292
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:34956035..34958785-chr11:35004705..35006336,2	MCF-7	breast:
2	chr11:34944920..34946901-chr11:34953844..34956335,2	K562	blood:
3	chr11:34954386..34956581-chr11:34957357..34959864,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110435	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11500298	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12283472	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12283652	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12286538	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12293733	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16926295	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2033356	0.92[ASN][1000 genomes]
rs2901525	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3763937	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3794172	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6484746	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7104943	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7104984	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7129830	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7931454	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7938962	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7941930	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832119	chr11:34815528-35009370	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	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
3	esv2757436	chr11:34913315-34963728	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	13 gene(s)	inside rSNPs	diseases
4	esv2759817	chr11:34913315-34963728	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	13 gene(s)	inside rSNPs	diseases
5	esv2754010	chr11:34940724-35001024	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1055116	chr11:34940737-34962291	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs12273153	APIP	cis	Adipose Subcutaneous	GTEx
rs12273153	APIP	cis	Esophagus Mucosa	GTEx
rs12273153	APIP	cis	Whole Blood	GTEx
rs12273153	APIP	cis	Heart Left Ventricle	GTEx
rs12273153	APIP	cis	lung	GTEx
rs12273153	APIP	cis	Esophagus Muscularis	GTEx
rs12273153	APIP	cis	Thyroid	GTEx
rs12273153	APIP	cis	Artery Tibial	GTEx
rs12273153	APIP	cis	Muscle Skeletal	GTEx
rs12273153	APIP	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34938800-34957400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr11:34938800-34990400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:34939200-35000000	Weak transcription	Thymus	Thymus
4	chr11:34939600-34962600	Weak transcription	Right Ventricle	heart
5	chr11:34939800-34960400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr11:34940000-34959200	Weak transcription	Fetal Brain Male	brain
7	chr11:34940000-34963800	Weak transcription	Spleen	Spleen
8	chr11:34940200-34970400	Weak transcription	Left Ventricle	heart
9	chr11:34940200-34984800	Weak transcription	Fetal Stomach	stomach
10	chr11:34940400-34957000	Weak transcription	Brain Germinal Matrix	brain
11	chr11:34940400-34959200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr11:34940400-34959400	Weak transcription	Fetal Brain Female	brain
13	chr11:34940400-34962600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:34940600-34957400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:34940800-34957000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr11:34943800-34961600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr11:34946200-34958600	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr11:34948000-34990600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr11:34948000-35000400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr11:34948000-35006800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr11:34948200-34957600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr11:34948200-34957800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr11:34948200-34960200	Weak transcription	HMEC	breast
24	chr11:34948200-34997000	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr11:34948400-34958600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr11:34948600-34990400	Weak transcription	HUVEC	blood vessel
27	chr11:34948800-34965000	Weak transcription	HSMM	muscle
28	chr11:34949000-34961200	Weak transcription	GM12878-XiMat	blood
29	chr11:34949200-34961000	Weak transcription	Osteobl	bone
30	chr11:34949200-34990400	Weak transcription	NHEK	skin
31	chr11:34949400-34960400	Weak transcription	Fetal Heart	heart
32	chr11:34950200-34957000	Weak transcription	Hela-S3	cervix
33	chr11:34950400-34991600	Weak transcription	NHLF	lung
34	chr11:34951000-34965200	Weak transcription	Gastric	stomach
35	chr11:34951000-34970400	Weak transcription	Aorta	Aorta
36	chr11:34951000-34970400	Weak transcription	Ovary	ovary
37	chr11:34951000-34981400	Weak transcription	Brain Cingulate Gyrus	brain
38	chr11:34951400-34957800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr11:34951400-34986600	Weak transcription	Fetal Thymus	thymus
40	chr11:34951600-34957400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr11:34951600-34959800	Weak transcription	Colon Smooth Muscle	Colon
42	chr11:34951600-34963400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr11:34951600-34992000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr11:34951800-34958600	Weak transcription	Colonic Mucosa	Colon
45	chr11:34951800-34970400	Weak transcription	Pancreas	Pancrea
46	chr11:34951800-34985000	Weak transcription	Lung	lung
47	chr11:34951800-34988200	Weak transcription	Fetal Intestine Small	intestine
48	chr11:34951800-35000200	Weak transcription	Psoas Muscle	Psoas
49	chr11:34952000-34958600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr11:34952200-34956400	Weak transcription	H1 Cell Line	embryonic stem cell

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