Variant report

Variant	rs4902495
Chromosome Location	chr14:68051884-68051885
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARG2-4	chr14:68051833-68052371	NONHSAT037449

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11547225	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11625701	0.88[EUR][1000 genomes]
rs17836777	1.00[CEU][hapmap]
rs2236232	0.84[EUR][1000 genomes]
rs36113087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902489	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4902493	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4902498	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7152499	0.92[EUR][1000 genomes];0.98[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
rs4902495	PIGH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:100 , 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	chr14:68011800-68054600	Weak transcription	Hela-S3	cervix
4	chr14:68013400-68052600	Weak transcription	Aorta	Aorta
5	chr14:68022800-68053000	Weak transcription	Lung	lung
6	chr14:68026400-68057400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr14:68026600-68054400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr14:68026600-68055200	Weak transcription	HMEC	breast
9	chr14:68034400-68052400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:68034600-68057000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:68036800-68052400	Weak transcription	Fetal Thymus	thymus
12	chr14:68038400-68052200	Strong transcription	Brain Inferior Temporal Lobe	brain
13	chr14:68038400-68052400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:68038600-68057800	Strong transcription	Brain Cingulate Gyrus	brain
15	chr14:68039400-68057200	Strong transcription	Brain Germinal Matrix	brain
16	chr14:68039400-68057400	Strong transcription	Brain Anterior Caudate	brain
17	chr14:68039600-68061000	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr14:68040000-68057800	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr14:68040600-68055400	Weak transcription	HepG2	liver
20	chr14:68040800-68052000	Strong transcription	Brain Hippocampus Middle	brain
21	chr14:68040800-68057800	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr14:68041200-68052400	Weak transcription	Thymus	Thymus
23	chr14:68042200-68057000	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr14:68042400-68062000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr14:68043800-68054800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr14:68044000-68054600	Weak transcription	Liver	Liver
27	chr14:68044600-68056200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr14:68044600-68065800	Weak transcription	Fetal Kidney	kidney
29	chr14:68044800-68054000	Weak transcription	Psoas Muscle	Psoas
30	chr14:68044800-68061200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr14:68045000-68052000	Weak transcription	Spleen	Spleen
32	chr14:68045000-68052200	Weak transcription	Fetal Muscle Trunk	muscle
33	chr14:68045000-68057000	Weak transcription	Colon Smooth Muscle	Colon
34	chr14:68045000-68057600	Strong transcription	Brain Substantia Nigra	brain
35	chr14:68045000-68061000	Strong transcription	Placenta	Placenta
36	chr14:68045400-68052000	Weak transcription	NHEK	skin
37	chr14:68045600-68053000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr14:68046000-68054800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr14:68046200-68054800	Weak transcription	Ovary	ovary
40	chr14:68046400-68052400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr14:68046800-68053000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr14:68047000-68052400	Weak transcription	Adipose Nuclei	Adipose
43	chr14:68047200-68054800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr14:68047400-68054600	Weak transcription	Esophagus	oesophagus
45	chr14:68047400-68065800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr14:68047600-68052200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr14:68047600-68057600	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr14:68047800-68052000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr14:68048000-68052800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr14:68048000-68054800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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