Variant report

Variant	rs7342189
Chromosome Location	chr11:76387966-76387967
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:76380390..76383779-chr11:76386028..76388503,4	K562	blood:
2	chr11:76378581..76382468-chr11:76384470..76388855,6	K562	blood:
3	chr11:76387901..76389837-chr11:76392060..76394666,2	K562	blood:

Variant related genes	Relation type
ENSG00000137507	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10899251	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11236851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11606717	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs947998	1.00[CEU][hapmap];0.93[GIH][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][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	nsv1043912	chr11:76301316-76439095	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1039451	chr11:76301316-76440221	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv1810781	chr11:76311021-76464814	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv1047069	chr11:76367686-76420813	Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv1850014	chr11:76384895-76464814	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7342189	PLEKHB1	cis	parietal	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76382400-76388200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr11:76382400-76388600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr11:76384400-76388200	Weak transcription	Left Ventricle	heart
4	chr11:76384400-76391800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr11:76384400-76412800	Weak transcription	Right Atrium	heart
6	chr11:76384600-76388200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr11:76384800-76388200	Weak transcription	Fetal Heart	heart
8	chr11:76385400-76389000	Enhancers	Adipose Nuclei	Adipose
9	chr11:76385400-76390200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:76385400-76391600	Weak transcription	Right Ventricle	heart
11	chr11:76386000-76388200	Weak transcription	Placenta	Placenta
12	chr11:76386000-76388800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:76386200-76389600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr11:76386200-76389600	Enhancers	GM12878-XiMat	blood
15	chr11:76386400-76388200	Weak transcription	Colon Smooth Muscle	Colon
16	chr11:76386600-76388000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:76387000-76388000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:76387000-76389400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:76387000-76390600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:76387200-76388200	Enhancers	Spleen	Spleen
21	chr11:76387200-76388400	Enhancers	Primary B cells from cord blood	blood
22	chr11:76387200-76389200	Enhancers	Fetal Thymus	thymus
23	chr11:76387200-76390200	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr11:76387400-76388800	Enhancers	Fetal Stomach	stomach
25	chr11:76387400-76389200	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr11:76387400-76390200	Enhancers	Primary hematopoietic stem cells	blood
27	chr11:76387800-76388000	Weak transcription	Fetal Muscle Leg	muscle
28	chr11:76387800-76388400	Enhancers	Fetal Kidney	kidney
29	chr11:76387800-76388400	Enhancers	Pancreas	Pancrea
30	chr11:76387800-76389000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:76387800-76389000	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr11:76387800-76389000	Enhancers	NHDF-Ad	bronchial
33	chr11:76387800-76389200	Enhancers	HSMMtube	muscle

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