Variant report

Variant	rs62339915
Chromosome Location	chr4:151029062-151029063
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs12498375	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12501667	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12507820	0.92[EUR][1000 genomes]
rs12509998	0.90[EUR][1000 genomes]
rs4260524	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4260525	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4274824	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4274825	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4401436	0.90[EUR][1000 genomes]
rs4519777	0.95[EUR][1000 genomes]
rs4557242	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4622980	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56039024	0.90[EUR][1000 genomes]
rs56080313	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56382032	0.95[ASN][1000 genomes]
rs56896627	0.88[ASN][1000 genomes]
rs62338169	0.95[EUR][1000 genomes]
rs62338170	0.95[EUR][1000 genomes]
rs62338172	0.95[EUR][1000 genomes]
rs62338174	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62338175	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62338176	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62338177	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62338178	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62338180	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs62338181	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62338183	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62339872	0.90[EUR][1000 genomes]
rs62339873	0.90[EUR][1000 genomes]
rs62339881	0.90[EUR][1000 genomes]
rs62339882	0.90[EUR][1000 genomes]
rs62339883	0.90[EUR][1000 genomes]
rs62339884	0.90[EUR][1000 genomes]
rs62339885	0.90[EUR][1000 genomes]
rs62339886	0.90[EUR][1000 genomes]
rs62339887	0.90[EUR][1000 genomes]
rs62339888	0.90[EUR][1000 genomes]
rs62339889	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62339890	0.89[EUR][1000 genomes]
rs62339893	0.93[EUR][1000 genomes]
rs62339908	0.95[EUR][1000 genomes]
rs62339914	0.95[EUR][1000 genomes]
rs62341685	0.87[EUR][1000 genomes]
rs62341687	0.89[EUR][1000 genomes]
rs62341688	0.90[EUR][1000 genomes]
rs72730305	0.89[EUR][1000 genomes]
rs72730312	0.90[EUR][1000 genomes]
rs72730320	0.93[EUR][1000 genomes]
rs72730321	0.92[EUR][1000 genomes]
rs72730325	0.95[EUR][1000 genomes]
rs72965546	0.88[ASN][1000 genomes]
rs7438351	0.88[ASN][1000 genomes]
rs7655129	0.90[EUR][1000 genomes]
rs7658824	0.90[EUR][1000 genomes]
rs7667241	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7667342	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7675626	0.90[EUR][1000 genomes]
rs7688261	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7695751	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026797	chr4:150246932-151217137	Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv932022	chr4:150831733-151419552	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv830111	chr4:150867357-151035556	Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv530158	chr4:150877557-151040992	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1032689	chr4:150971003-151316856	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv537300	chr4:150971003-151316856	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151012200-151035400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:151017800-151030000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr4:151018000-151031800	Weak transcription	Brain Anterior Caudate	brain
4	chr4:151019400-151030000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr4:151019400-151037000	Weak transcription	NHLF	lung
6	chr4:151019600-151037200	Weak transcription	HSMMtube	muscle
7	chr4:151020000-151034400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr4:151020200-151031200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr4:151021000-151035400	Weak transcription	HSMM	muscle
10	chr4:151021000-151037000	Weak transcription	Pancreas	Pancrea
11	chr4:151021600-151030000	Weak transcription	Fetal Stomach	stomach
12	chr4:151023600-151029200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:151024800-151031400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:151026400-151029800	Weak transcription	Fetal Brain Female	brain
15	chr4:151027000-151032000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:151027800-151029200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr4:151028400-151030000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr4:151028400-151030000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:151028400-151035400	Weak transcription	Osteobl	bone
20	chr4:151028600-151029800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr4:151028600-151030000	Weak transcription	A549	lung
22	chr4:151028600-151036600	Weak transcription	Fetal Heart	heart
23	chr4:151028800-151030800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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