Variant report

Variant	rs1465118
Chromosome Location	chr14:68032874-68032875
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68028812..68031315-chr14:68031885..68034063,2	MCF-7	breast:
2	chr14:67998796..68001289-chr14:68031432..68034356,3	MCF-7	breast:
3	chr14:67999015..68003161-chr14:68029425..68040471,13	MCF-7	breast:
4	chr14:68031752..68034679-chr14:68045751..68048479,2	K562	blood:

Variant related genes	Relation type
ENSG00000198133	Chromatin interaction
ENSG00000054690	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17184938	0.82[ASW][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.91[ASN][1000 genomes]
rs3742867	0.86[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7148708	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs72721039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8006273	0.93[CHD][hapmap];1.00[JPT][hapmap]

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
rs1465118	PLEKHH1	cis	cerebellum	SCAN

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68000400-68044000	Weak transcription	Spleen	Spleen
2	chr14:68002000-68065800	Weak transcription	Fetal Brain Male	brain
3	chr14:68003200-68039800	Weak transcription	Fetal Kidney	kidney
4	chr14:68005800-68042400	Weak transcription	NHEK	skin
5	chr14:68008800-68052200	Weak transcription	Left Ventricle	heart
6	chr14:68009000-68044800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:68009000-68050400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr14:68009200-68040400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr14:68009200-68045200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr14:68010200-68036400	Weak transcription	Small Intestine	intestine
11	chr14:68011800-68045000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr14:68011800-68054600	Weak transcription	Hela-S3	cervix
13	chr14:68012000-68033000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr14:68012000-68045000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr14:68013400-68052600	Weak transcription	Aorta	Aorta
16	chr14:68014400-68036200	Weak transcription	Colonic Mucosa	Colon
17	chr14:68016000-68033000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:68018600-68042400	Weak transcription	Right Ventricle	heart
19	chr14:68020800-68033600	Weak transcription	Stomach Mucosa	stomach
20	chr14:68022800-68053000	Weak transcription	Lung	lung
21	chr14:68024200-68038000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:68024400-68033000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr14:68024600-68037000	Strong transcription	Fetal Intestine Small	intestine
24	chr14:68024600-68039400	Weak transcription	HepG2	liver
25	chr14:68025000-68033000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr14:68026400-68057400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr14:68026600-68036400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr14:68026600-68054400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr14:68026600-68055200	Weak transcription	HMEC	breast
30	chr14:68027200-68033400	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr14:68027600-68045400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr14:68029800-68033000	Weak transcription	Esophagus	oesophagus
33	chr14:68029800-68035800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr14:68029800-68040000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr14:68029800-68042600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr14:68030000-68033000	Weak transcription	Adipose Nuclei	Adipose
37	chr14:68030000-68033200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr14:68030000-68035600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr14:68030000-68040400	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr14:68030000-68041600	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr14:68030000-68042200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr14:68030000-68042600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr14:68030000-68044800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr14:68030200-68034600	Weak transcription	Fetal Brain Female	brain
45	chr14:68030200-68039400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr14:68030200-68041600	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr14:68030600-68039400	Weak transcription	Brain Germinal Matrix	brain
48	chr14:68030800-68034200	Weak transcription	Gastric	stomach
49	chr14:68031000-68035200	Strong transcription	Duodenum Mucosa	Duodenum
50	chr14:68031000-68038200	Genic enhancers	Brain Hippocampus Middle	brain

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