Variant report

Variant	rs4869150
Chromosome Location	chr5:96516996-96516997
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:96268592..96270496-chr5:96515475..96517242,2	MCF-7	breast:
2	chr5:96508014..96513294-chr5:96513654..96520413,9	K562	blood:
3	chr5:96142348..96143873-chr5:96516638..96519268,2	K562	blood:
4	chr5:96142348..96145031-chr5:96516210..96518138,3	K562	blood:

Variant related genes	Relation type
ENSG00000164307	Chromatin interaction
ENSG00000206698	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2544771	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2544772	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2548319	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28484279	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs31000	0.92[EUR][1000 genomes]
rs31002	0.87[EUR][1000 genomes]
rs31004	0.86[EUR][1000 genomes]
rs316195	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4869320	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57726714	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv830412	chr5:96427305-96606619	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1019790	chr5:96471680-96980633	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv537812	chr5:96471680-96980633	ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv882391	chr5:96496189-96533469	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv882392	chr5:96496189-96546238	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv882393	chr5:96496189-96567950	Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4869150	RIOK2	Cis_1M	lymphoblastoid	RTeQTL
rs4869150	RIOK2	cis	Muscle Skeletal	GTEx
rs4869150	RIOK2	cis	Artery Tibial	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96494400-96518000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:96495200-96518000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:96495600-96517800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:96495800-96517400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:96510200-96517200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:96512400-96517200	Weak transcription	Fetal Stomach	stomach
7	chr5:96512600-96517000	Weak transcription	Small Intestine	intestine
8	chr5:96513600-96517400	Weak transcription	Brain Germinal Matrix	brain
9	chr5:96514600-96517200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr5:96514600-96517200	Weak transcription	Brain Substantia Nigra	brain
11	chr5:96514600-96517200	Weak transcription	Fetal Heart	heart
12	chr5:96514600-96517400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:96514600-96517400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr5:96514600-96517400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr5:96514600-96517400	Weak transcription	Fetal Brain Male	brain
16	chr5:96514600-96517400	Weak transcription	Gastric	stomach
17	chr5:96514600-96517400	Weak transcription	Pancreas	Pancrea
18	chr5:96514600-96517400	Weak transcription	Thymus	Thymus
19	chr5:96514600-96518000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:96514600-96518000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr5:96514600-96518400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr5:96514600-96518600	Weak transcription	Spleen	Spleen
23	chr5:96514800-96517000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr5:96514800-96517200	Weak transcription	Aorta	Aorta
25	chr5:96514800-96517200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr5:96514800-96517200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr5:96514800-96517400	Weak transcription	Brain Angular Gyrus	brain
28	chr5:96514800-96517400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr5:96514800-96517400	Weak transcription	Brain Hippocampus Middle	brain
30	chr5:96514800-96517400	Weak transcription	Right Ventricle	heart
31	chr5:96514800-96517600	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr5:96514800-96517600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr5:96514800-96517600	Weak transcription	Fetal Kidney	kidney
34	chr5:96514800-96518000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:96514800-96518000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr5:96514800-96518000	Weak transcription	Esophagus	oesophagus
37	chr5:96514800-96518000	Weak transcription	Left Ventricle	heart
38	chr5:96514800-96518000	Weak transcription	Lung	lung
39	chr5:96515000-96517000	Weak transcription	NHEK	skin
40	chr5:96515000-96517200	Weak transcription	Adipose Nuclei	Adipose
41	chr5:96515000-96517200	Weak transcription	HUVEC	blood vessel
42	chr5:96515000-96517400	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr5:96515000-96517400	Weak transcription	Colonic Mucosa	Colon
44	chr5:96515200-96517000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr5:96515200-96517000	Weak transcription	Fetal Intestine Large	intestine
46	chr5:96515200-96517200	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr5:96515200-96517200	Weak transcription	NHLF	lung
48	chr5:96515200-96517400	Weak transcription	Fetal Lung	lung
49	chr5:96515200-96517400	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr5:96515200-96517600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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