Variant report

Variant	rs57795451
Chromosome Location	chr11:35028511-35028512
allele	C/T
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: 19 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11032937	0.80[ASN][1000 genomes]
rs11032940	0.80[ASN][1000 genomes]
rs11032941	0.80[ASN][1000 genomes]
rs11032942	0.80[ASN][1000 genomes]
rs11032943	0.80[ASN][1000 genomes]
rs11032973	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12274383	0.80[ASN][1000 genomes]
rs12274490	0.80[ASN][1000 genomes]
rs12275911	0.80[ASN][1000 genomes]
rs12282382	0.80[ASN][1000 genomes]
rs12282419	0.80[ASN][1000 genomes]
rs12294125	0.80[ASN][1000 genomes]
rs7947650	0.80[ASN][1000 genomes]
rs7952208	0.80[ASN][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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs57795451	PDHX	cis	Muscle Skeletal	GTEx
rs57795451	APIP	cis	Skin Sun Exposed Lower leg	GTEx
rs57795451	APIP	cis	lung	GTEx
rs57795451	APIP	cis	Esophagus Mucosa	GTEx
rs57795451	APIP	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:69 , 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	chr11:35007000-35029800	Weak transcription	Esophagus	oesophagus
4	chr11:35007200-35035200	Weak transcription	Fetal Stomach	stomach
5	chr11:35008600-35030800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr11:35017200-35030800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr11:35019800-35035400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr11:35020000-35030400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:35020200-35029800	Weak transcription	NHDF-Ad	bronchial
10	chr11:35021400-35029400	Weak transcription	Hela-S3	cervix
11	chr11:35025400-35029800	Weak transcription	HMEC	breast
12	chr11:35025400-35030800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:35025400-35035200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr11:35025600-35030600	Weak transcription	Osteobl	bone
15	chr11:35025600-35030800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr11:35025600-35030800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr11:35025800-35030400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:35026600-35028600	Enhancers	NHEK	skin
19	chr11:35026600-35032000	Enhancers	Stomach Mucosa	stomach
20	chr11:35026800-35029200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr11:35026800-35030200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr11:35027000-35029200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr11:35027000-35029600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr11:35027000-35029600	Weak transcription	Colonic Mucosa	Colon
25	chr11:35027000-35029800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr11:35027000-35029800	Weak transcription	Psoas Muscle	Psoas
27	chr11:35027000-35029800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr11:35027000-35030800	Weak transcription	Fetal Intestine Large	intestine
29	chr11:35027000-35032200	Enhancers	Duodenum Mucosa	Duodenum
30	chr11:35027200-35030800	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr11:35027400-35029200	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr11:35027400-35030200	Enhancers	A549	lung
33	chr11:35027600-35029200	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr11:35027600-35029200	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr11:35027600-35030000	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr11:35027800-35028600	Enhancers	Primary T cells fromperipheralblood	blood
37	chr11:35027800-35028600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:35027800-35028600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr11:35027800-35029800	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr11:35027800-35031600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:35028000-35028600	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr11:35028000-35028600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:35028000-35028600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr11:35028000-35028600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr11:35028000-35028600	Enhancers	Left Ventricle	heart
46	chr11:35028000-35028600	Enhancers	Pancreas	Pancrea
47	chr11:35028000-35028800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr11:35028000-35029000	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr11:35028000-35029200	Enhancers	Primary B cells from peripheral blood	blood
50	chr11:35028000-35029600	Enhancers	Monocytes-CD14+_RO01746	blood

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