Variant report

Variant	rs1498272
Chromosome Location	chr10:4731224-4731225
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11252656	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11252657	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11252658	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11252660	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11252662	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12572602	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1498273	0.87[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.94[MEX][hapmap];0.96[MKK][hapmap];0.91[TSI][hapmap];0.88[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17133411	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4242771	0.80[ASN][1000 genomes]
rs4992184	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7080358	0.87[YRI][hapmap]
rs7080649	0.82[ASN][1000 genomes]
rs7904029	0.87[YRI][hapmap]
rs924288	0.80[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894787	chr10:4385379-4857717	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1498272	NET1	cis	cerebellum	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4721200-4733600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr10:4727200-4733800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr10:4728200-4733600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr10:4728200-4735600	Weak transcription	Psoas Muscle	Psoas
5	chr10:4728200-4738000	Weak transcription	Fetal Muscle Leg	muscle
6	chr10:4728400-4731800	Weak transcription	Pancreas	Pancrea
7	chr10:4729000-4731400	Enhancers	HMEC	breast
8	chr10:4729200-4733800	Weak transcription	HSMM	muscle
9	chr10:4729400-4731400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr10:4729400-4731400	Enhancers	Placenta Amnion	Placenta Amnion
11	chr10:4729800-4733600	Weak transcription	Osteobl	bone
12	chr10:4729800-4733800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr10:4730000-4733800	Weak transcription	A549	lung
14	chr10:4730000-4733800	Weak transcription	NHDF-Ad	bronchial
15	chr10:4730200-4731800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr10:4730200-4732000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr10:4730200-4733600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr10:4730400-4731400	Enhancers	Dnd41	blood
19	chr10:4730400-4731800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr10:4730400-4733600	Weak transcription	NH-A	brain
21	chr10:4730600-4731400	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr10:4730800-4731400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr10:4730800-4731400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr10:4730800-4731400	Enhancers	Thymus	Thymus
25	chr10:4731000-4731400	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr10:4731000-4731600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr10:4731200-4731600	Weak transcription	NHEK	skin
28	chr10:4731200-4731800	Weak transcription	Left Ventricle	heart
29	chr10:4731200-4733200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr10:4731200-4733600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr10:4731200-4733800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr10:4731200-4733800	Weak transcription	Stomach Mucosa	stomach

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