Variant report

Variant	rs10518323
Chromosome Location	chr4:119718085-119718086
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:119715898..119718716-chr4:119755472..119757940,2	K562	blood:
2	chr4:119715812..119718716-chr4:119755325..119757940,3	K562	blood:

Variant related genes	Relation type
ENSG00000150961	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10011672	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10014208	0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.84[TSI][hapmap];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10470914	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10518322	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10518324	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11098449	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11098450	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11722833	0.91[CEU][hapmap];0.81[GIH][hapmap];0.83[MKK][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes]
rs11730993	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11736024	1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.95[MKK][hapmap];0.84[TSI][hapmap];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12500272	0.87[AMR][1000 genomes]
rs12505513	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12506295	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12506576	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12509236	0.87[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];0.84[GIH][hapmap];0.86[JPT][hapmap];0.85[LWK][hapmap];0.86[MKK][hapmap];0.88[TSI][hapmap];0.87[AMR][1000 genomes]
rs12509654	0.91[CEU][hapmap];0.86[MKK][hapmap];0.86[TSI][hapmap];0.86[AMR][1000 genomes]
rs12649666	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs13109947	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13109966	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13114964	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13120798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13128195	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs17050423	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2303512	0.81[CHB][hapmap]
rs2303513	0.82[CEU][hapmap];0.81[TSI][hapmap]
rs298977	0.86[CEU][hapmap];0.86[MKK][hapmap];0.91[TSI][hapmap]
rs298980	0.86[CEU][hapmap];0.86[MKK][hapmap];0.91[TSI][hapmap]
rs298981	0.86[CEU][hapmap];0.83[MKK][hapmap];0.91[TSI][hapmap]
rs298989	0.86[AMR][1000 genomes]
rs298990	0.86[CEU][hapmap];0.86[AMR][1000 genomes]
rs34384498	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34616305	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34730066	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35868882	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3775836	0.88[CHD][hapmap];0.85[JPT][hapmap];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4834699	0.87[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];0.86[TSI][hapmap];0.82[AMR][1000 genomes]
rs58450672	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs67175714	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7676832	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs960738	0.82[GIH][hapmap];0.82[JPT][hapmap];0.83[MKK][hapmap]
rs960739	0.91[CEU][hapmap];0.84[GIH][hapmap];0.82[JPT][hapmap];0.83[MKK][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes]
rs9997799	0.81[AMR][1000 genomes];0.99[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	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats 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	39 gene(s)	inside rSNPs	diseases
2	esv3355840	chr4:119296640-119774737	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10518323	MYOZ2	cis	parietal	SCAN
rs10518323	METTL14	cis	lymphoblastoid	seeQTL
rs10518323	USP53	cis	cerebellum	SCAN
rs10518323	METTL14	cis	brain	seeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119688600-119732600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:119703400-119732200	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr4:119703800-119738200	Strong transcription	Placenta	Placenta
4	chr4:119704200-119740000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:119704800-119735200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:119705200-119721200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:119705200-119748200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr4:119707800-119730800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr4:119708000-119732800	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr4:119708400-119723000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:119708800-119722200	Strong transcription	Liver	Liver
12	chr4:119709600-119719800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr4:119710200-119719200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:119712400-119723400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:119712400-119739000	Strong transcription	Fetal Muscle Leg	muscle
16	chr4:119713600-119724400	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr4:119713800-119739600	Strong transcription	Fetal Muscle Trunk	muscle
18	chr4:119714000-119718400	Strong transcription	HUVEC	blood vessel
19	chr4:119714000-119719800	Strong transcription	NH-A	brain
20	chr4:119714000-119719800	Strong transcription	Osteobl	bone
21	chr4:119714000-119720200	Strong transcription	NHDF-Ad	bronchial
22	chr4:119714000-119721800	Strong transcription	HSMMtube	muscle
23	chr4:119714000-119722800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr4:119714000-119724600	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr4:119714000-119738200	Strong transcription	Duodenum Mucosa	Duodenum
26	chr4:119714000-119739000	Strong transcription	HSMM	muscle
27	chr4:119714000-119739200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr4:119714200-119722000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr4:119714200-119724800	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr4:119714400-119740200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:119714600-119724400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr4:119714600-119729400	Strong transcription	HepG2	liver
33	chr4:119714600-119731000	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr4:119714600-119737800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:119714800-119721400	Strong transcription	Dnd41	blood
36	chr4:119714800-119723200	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr4:119715200-119733800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr4:119715600-119719200	Strong transcription	Primary B cells from cord blood	blood
39	chr4:119715600-119721400	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr4:119715600-119721600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr4:119715800-119723200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr4:119715800-119734200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr4:119716200-119718800	Strong transcription	NHEK	skin
44	chr4:119716200-119720800	Weak transcription	Brain Hippocampus Middle	brain
45	chr4:119716200-119721400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr4:119716200-119723200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr4:119716200-119723400	Weak transcription	Psoas Muscle	Psoas
48	chr4:119716200-119736000	Weak transcription	A549	lung
49	chr4:119716200-119738000	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr4:119716400-119718200	Strong transcription	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links