Variant report

Variant	rs3742867
Chromosome Location	chr14:68008867-68008868
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68008274..68010027-chr14:68011299..68013623,2	K562	blood:
2	chr14:67993812..67995992-chr14:68006775..68009101,2	K562	blood:
3	chr14:67826062..67828511-chr14:68007056..68009921,3	MCF-7	breast:
4	chr14:67997232..68003099-chr14:68003235..68008915,12	K562	blood:
5	chr14:67999470..68001789-chr14:68008159..68009675,2	MCF-7	breast:
6	chr14:68005520..68007606-chr14:68008009..68010384,2	MCF-7	breast:
7	chr14:68007197..68009938-chr14:68013704..68015617,3	K562	blood:

Variant related genes	Relation type
ENSG00000100554	Chromatin interaction
ENSG00000054690	Chromatin interaction
ENSG00000198133	Chromatin interaction
ENSG00000134001	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1465118	0.86[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17184938	0.93[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7148708	0.85[ASN][1000 genomes]
rs72721024	0.86[EUR][1000 genomes]
rs72721039	0.81[ASN][1000 genomes]
rs731680	1.00[CHB][hapmap];0.98[ASN][1000 genomes]
rs8006273	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3742867	PLEKHH1	cis	cerebellum	SCAN

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68000400-68044000	Weak transcription	Spleen	Spleen
2	chr14:68000800-68011400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:68000800-68013000	Weak transcription	A549	lung
4	chr14:68001000-68010600	Weak transcription	Hela-S3	cervix
5	chr14:68001000-68024400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr14:68001400-68028400	Weak transcription	Brain Germinal Matrix	brain
7	chr14:68001800-68023600	Weak transcription	HepG2	liver
8	chr14:68002000-68065800	Weak transcription	Fetal Brain Male	brain
9	chr14:68003200-68039800	Weak transcription	Fetal Kidney	kidney
10	chr14:68005400-68018200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr14:68005600-68010800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr14:68005600-68011000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr14:68005600-68023600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr14:68005800-68042400	Weak transcription	NHEK	skin
15	chr14:68006200-68011200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr14:68006400-68009800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr14:68006600-68010000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:68006800-68009400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr14:68006800-68009800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr14:68007800-68009000	Active TSS	Duodenum Mucosa	Duodenum
21	chr14:68008000-68009000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr14:68008000-68009000	Active TSS	Stomach Mucosa	stomach
23	chr14:68008000-68009200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr14:68008000-68009200	Active TSS	Rectal Smooth Muscle	rectum
25	chr14:68008200-68009000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
26	chr14:68008200-68009000	Active TSS	Fetal Intestine Large	intestine
27	chr14:68008200-68009000	Active TSS	Fetal Intestine Small	intestine
28	chr14:68008200-68009000	Bivalent/Poised TSS	Fetal Stomach	stomach
29	chr14:68008200-68009200	Active TSS	H9 Cell Line	embryonic stem cell
30	chr14:68008200-68009200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr14:68008200-68009200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr14:68008200-68009200	Active TSS	Colonic Mucosa	Colon
33	chr14:68008200-68009200	Bivalent Enhancer	Fetal Thymus	thymus
34	chr14:68008200-68009200	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
35	chr14:68008200-68009400	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr14:68008200-68011200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr14:68008400-68009000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr14:68008400-68009000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr14:68008400-68009000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr14:68008400-68009000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
41	chr14:68008400-68009000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr14:68008400-68009000	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr14:68008400-68009000	Flanking Active TSS	Pancreas	Pancrea
44	chr14:68008400-68010200	Genic enhancers	Brain Angular Gyrus	brain
45	chr14:68008400-68010200	Genic enhancers	Brain Inferior Temporal Lobe	brain
46	chr14:68008600-68009000	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr14:68008600-68009000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr14:68008600-68009000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
49	chr14:68008600-68009000	Bivalent/Poised TSS	Primary T helper cells PMA-I stimulated	--
50	chr14:68008600-68009000	Active TSS	Primary T helper cells fromperipheralblood	blood

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