Variant report

Variant	rs10742324
Chromosome Location	chr11:34770077-34770078
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:34621214..34622751-chr11:34769844..34772782,2	MCF-7	breast:
2	chr11:34768738..34771170-chr11:34853652..34856105,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10742323	0.94[ASN][1000 genomes]
rs10768101	0.97[ASN][1000 genomes]
rs1396884	0.97[ASN][1000 genomes]
rs1605879	0.97[ASN][1000 genomes]
rs1813690	0.97[ASN][1000 genomes]
rs474636	0.82[ASN][1000 genomes]
rs484717	0.84[ASN][1000 genomes]
rs486710	0.84[ASN][1000 genomes]
rs490410	0.84[ASN][1000 genomes]
rs494170	0.84[ASN][1000 genomes]
rs497837	0.82[ASN][1000 genomes]
rs504186	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs508536	0.84[ASN][1000 genomes]
rs513051	0.82[ASN][1000 genomes]
rs514220	0.84[ASN][1000 genomes]
rs519858	0.82[ASN][1000 genomes]
rs522585	0.84[ASN][1000 genomes]
rs535054	0.84[ASN][1000 genomes]
rs535744	0.84[ASN][1000 genomes]
rs542156	0.84[ASN][1000 genomes]
rs571164	0.84[ASN][1000 genomes]
rs704749	0.84[ASN][1000 genomes]
rs7109762	0.97[ASN][1000 genomes]
rs7110293	0.97[ASN][1000 genomes]
rs7129969	0.94[ASN][1000 genomes]
rs7933091	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	nsv1045130	chr11:34641598-34777725	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1052192	chr11:34641598-34781288	ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Strong transcription 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
4	nsv1051492	chr11:34641598-34789331	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription 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
5	nsv1052008	chr11:34641598-34794024	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv467788	chr11:34642493-34770494	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription 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
7	nsv553998	chr11:34642493-34770494	Enhancers Strong transcription Active TSS ZNF genes & repeats Weak transcription 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 target site	5 gene(s)	inside rSNPs	diseases
8	nsv518807	chr11:34642493-34780936	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv519718	chr11:34642493-34780936	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats 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
10	nsv467789	chr11:34642493-34780936	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer 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
11	nsv467790	chr11:34642493-34780936	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats 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
12	nsv553999	chr11:34642493-34780936	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
13	nsv554000	chr11:34643780-34780936	Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS 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
14	nsv869812	chr11:34648088-34810956	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS 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
15	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
16	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10742324	APIP	cis	Esophagus Muscularis	GTEx

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34752800-34770800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:34759800-34780000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:34760200-34774400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr11:34760200-34776200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:34760200-34776800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:34760400-34787000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:34762200-34776000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr11:34764800-34776200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr11:34765000-34777000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:34765200-34787000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr11:34767000-34770800	Weak transcription	Pancreas	Pancrea
12	chr11:34767400-34770200	Weak transcription	Gastric	stomach
13	chr11:34768800-34778200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr11:34769000-34771000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr11:34769400-34779800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr11:34769600-34770200	Strong transcription	Placenta	Placenta
17	chr11:34769600-34770200	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr11:34769600-34771600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr11:34769800-34771200	Enhancers	Esophagus	oesophagus
20	chr11:34769800-34773400	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr11:34769800-34773600	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr11:34770000-34770200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr11:34770000-34770200	Enhancers	Adipose Nuclei	Adipose
24	chr11:34770000-34771000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:34770000-34773000	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr11:34770000-34773400	Enhancers	Psoas Muscle	Psoas

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