Variant report

Variant	rs10040098
Chromosome Location	chr5:95674266-95674267
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10036439	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10213823	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10213965	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10476552	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10476553	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10515237	0.91[CEU][hapmap];0.90[JPT][hapmap]
rs12332295	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13159579	0.90[CEU][hapmap]
rs13168460	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs13169290	0.90[ASN][1000 genomes]
rs17085655	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17085658	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17085665	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17085675	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2882298	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35247507	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35648612	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36115340	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3811951	0.91[CEU][hapmap];0.91[JPT][hapmap]
rs59139497	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6234	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6235	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6869253	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6890994	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7700417	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7713317	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7722200	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9285019	0.84[EUR][1000 genomes];0.93[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	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95667600-95675400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr5:95669000-95674400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr5:95669000-95675400	Weak transcription	Aorta	Aorta
4	chr5:95669000-95675400	Weak transcription	Psoas Muscle	Psoas
5	chr5:95669200-95674400	Weak transcription	Left Ventricle	heart
6	chr5:95669400-95675400	Weak transcription	Right Ventricle	heart
7	chr5:95669600-95674400	Weak transcription	Gastric	stomach
8	chr5:95669600-95675400	Weak transcription	Right Atrium	heart
9	chr5:95671000-95675000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:95671000-95676200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:95671200-95675200	Enhancers	HMEC	breast
12	chr5:95671200-95675600	Enhancers	HepG2	liver
13	chr5:95671200-95676200	Enhancers	A549	lung
14	chr5:95671200-95676400	Enhancers	HSMM	muscle
15	chr5:95671400-95674600	Enhancers	Liver	Liver
16	chr5:95671400-95676400	Enhancers	Osteobl	bone
17	chr5:95671400-95676800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:95671600-95676400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr5:95671800-95674600	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr5:95672000-95674400	Weak transcription	Pancreas	Pancrea
21	chr5:95672000-95674400	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr5:95672200-95674400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:95672200-95674600	Weak transcription	Fetal Heart	heart
24	chr5:95672200-95675200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:95672200-95675200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr5:95672200-95675400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr5:95672200-95675800	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr5:95672200-95676400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr5:95672200-95687400	Enhancers	Hela-S3	cervix
30	chr5:95672400-95675800	Weak transcription	NHEK	skin
31	chr5:95672600-95674400	Weak transcription	Stomach Smooth Muscle	stomach
32	chr5:95672600-95674600	Weak transcription	Adipose Nuclei	Adipose
33	chr5:95672600-95675400	Weak transcription	Brain Hippocampus Middle	brain
34	chr5:95672600-95675400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr5:95672600-95675600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr5:95672600-95675600	Weak transcription	HUVEC	blood vessel
37	chr5:95672600-95675800	Weak transcription	Brain Anterior Caudate	brain
38	chr5:95673000-95675200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr5:95673000-95675800	Weak transcription	NH-A	brain
40	chr5:95673400-95674400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr5:95673400-95674400	Weak transcription	NHDF-Ad	bronchial
42	chr5:95673400-95674400	Weak transcription	NHLF	lung
43	chr5:95673400-95674600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr5:95673400-95674800	Weak transcription	Brain Substantia Nigra	brain
45	chr5:95673400-95675200	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr5:95673400-95675800	Enhancers	Muscle Satellite Cultured Cells	--
47	chr5:95673400-95676000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr5:95673600-95674400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr5:95673800-95675400	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr5:95673800-95675800	Enhancers	GM12878-XiMat	blood

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