Variant report

Variant	rs1366638
Chromosome Location	chr5:36616535-36616536
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10941308	0.91[CHB][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs1428975	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2432213	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.97[TSI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs448281	0.92[CHB][hapmap];0.95[CHD][hapmap];0.92[JPT][hapmap];0.94[MEX][hapmap];0.80[TSI][hapmap];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6451303	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6868250	0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv830263	chr5:36576504-36755093	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic 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	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1366638	NPR3	cis	parietal	SCAN
rs1366638	C5orf33	cis	parietal	SCAN

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36608400-36617200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:36608600-36617200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:36608800-36639600	Weak transcription	Esophagus	oesophagus
4	chr5:36609200-36617200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr5:36609400-36619200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:36609400-36619800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr5:36610000-36617200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr5:36610600-36629800	Weak transcription	NHDF-Ad	bronchial
9	chr5:36611000-36633600	Weak transcription	Brain Germinal Matrix	brain
10	chr5:36611200-36630000	Weak transcription	Right Ventricle	heart
11	chr5:36612200-36623400	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr5:36612400-36619200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
13	chr5:36612600-36616800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:36613200-36618000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr5:36613200-36620200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr5:36613400-36618800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:36613600-36617600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:36613600-36618200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr5:36613600-36618600	Weak transcription	NHEK	skin
20	chr5:36613600-36618800	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr5:36613600-36619000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr5:36613600-36624400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr5:36613800-36618200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr5:36614000-36624000	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr5:36614000-36629600	Weak transcription	Fetal Muscle Leg	muscle
26	chr5:36614200-36618400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr5:36614200-36619000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:36614400-36619000	Weak transcription	Hela-S3	cervix
29	chr5:36614600-36616800	Enhancers	Psoas Muscle	Psoas
30	chr5:36614600-36617000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr5:36614600-36619400	Enhancers	Fetal Heart	heart
32	chr5:36614800-36618600	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr5:36614800-36621400	Weak transcription	Brain Angular Gyrus	brain
34	chr5:36615000-36617200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr5:36615000-36624000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr5:36615000-36629600	Weak transcription	Fetal Muscle Trunk	muscle
37	chr5:36615200-36616600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr5:36615200-36618600	Weak transcription	HMEC	breast
39	chr5:36615200-36621800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr5:36615200-36624200	Weak transcription	HSMM	muscle
41	chr5:36615200-36627600	Weak transcription	Adipose Nuclei	Adipose
42	chr5:36615400-36621800	Weak transcription	Brain Substantia Nigra	brain
43	chr5:36615400-36630000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr5:36615400-36630200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr5:36615800-36617000	Weak transcription	Left Ventricle	heart
46	chr5:36615800-36618000	Weak transcription	Brain Hippocampus Middle	brain
47	chr5:36615800-36619000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr5:36615800-36629800	Weak transcription	Placenta	Placenta
49	chr5:36616000-36616600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr5:36616000-36616600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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