Variant report

Variant	rs7152499
Chromosome Location	chr14:68045753-68045754
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:68045640-68045790	GM12874	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:67998392..68000379-chr14:68043032..68045856,2	MCF-7	breast:
2	chr14:67998697..68001854-chr14:68041996..68045954,4	MCF-7	breast:

Variant related genes	Relation type
PLEKHH1	TF binding region
ENSG00000198133	Chromatin interaction
ENSG00000054690	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11547225	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11625701	0.87[EUR][1000 genomes]
rs2236232	0.81[EUR][1000 genomes]
rs36113087	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4902489	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4902493	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902495	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4902498	0.82[EUR][1000 genomes];0.94[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
rs7152499	PIGH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68002000-68065800	Weak transcription	Fetal Brain Male	brain
2	chr14:68008800-68052200	Weak transcription	Left Ventricle	heart
3	chr14:68009000-68050400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr14:68011800-68054600	Weak transcription	Hela-S3	cervix
5	chr14:68013400-68052600	Weak transcription	Aorta	Aorta
6	chr14:68022800-68053000	Weak transcription	Lung	lung
7	chr14:68026400-68057400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr14:68026600-68054400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr14:68026600-68055200	Weak transcription	HMEC	breast
10	chr14:68034400-68052400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:68034600-68057000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:68034800-68047200	Weak transcription	Stomach Mucosa	stomach
13	chr14:68036800-68052400	Weak transcription	Fetal Thymus	thymus
14	chr14:68038400-68052200	Strong transcription	Brain Inferior Temporal Lobe	brain
15	chr14:68038400-68052400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:68038600-68057800	Strong transcription	Brain Cingulate Gyrus	brain
17	chr14:68039200-68046000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr14:68039400-68049000	Strong transcription	Stomach Smooth Muscle	stomach
19	chr14:68039400-68049200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr14:68039400-68049400	Strong transcription	Fetal Stomach	stomach
21	chr14:68039400-68057200	Strong transcription	Brain Germinal Matrix	brain
22	chr14:68039400-68057400	Strong transcription	Brain Anterior Caudate	brain
23	chr14:68039600-68046200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:68039600-68046800	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr14:68039600-68049400	Strong transcription	Brain Angular Gyrus	brain
26	chr14:68039600-68061000	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr14:68039800-68048600	Strong transcription	Fetal Brain Female	brain
28	chr14:68040000-68057800	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr14:68040200-68046800	Strong transcription	Duodenum Mucosa	Duodenum
30	chr14:68040400-68051600	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr14:68040600-68055400	Weak transcription	HepG2	liver
32	chr14:68040800-68052000	Strong transcription	Brain Hippocampus Middle	brain
33	chr14:68040800-68057800	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr14:68041200-68052400	Weak transcription	Thymus	Thymus
35	chr14:68041600-68049200	Strong transcription	H9 Cell Line	embryonic stem cell
36	chr14:68042200-68048000	Strong transcription	Colonic Mucosa	Colon
37	chr14:68042200-68057000	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr14:68042400-68048000	Strong transcription	Right Ventricle	heart
39	chr14:68042400-68062000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr14:68042600-68049200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr14:68043800-68046200	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr14:68043800-68054800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr14:68044000-68046800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr14:68044000-68054600	Weak transcription	Liver	Liver
45	chr14:68044200-68046000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr14:68044400-68046600	Strong transcription	Fetal Intestine Large	intestine
47	chr14:68044600-68049400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr14:68044600-68056200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr14:68044600-68065800	Weak transcription	Fetal Kidney	kidney
50	chr14:68044800-68047000	Strong transcription	Adipose Nuclei	Adipose

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