Variant report

Variant	rs56141146
Chromosome Location	chr4:151069349-151069350
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1160433	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11737192	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3922818	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4346630	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4513543	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55803223	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60467236	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7340876	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7674585	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
4	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
5	esv3335754	chr4:151069024-151069349	Weak transcription	n/a	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs56141146	RP11-372K14.2	cis	Nerve Tibial	GTEx

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151038800-151070000	Weak transcription	Ovary	ovary
2	chr4:151045200-151099000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:151049200-151074000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr4:151057800-151070600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:151061800-151069800	Weak transcription	Left Ventricle	heart
6	chr4:151061800-151071800	Weak transcription	Brain Anterior Caudate	brain
7	chr4:151062800-151071800	Weak transcription	Colon Smooth Muscle	Colon
8	chr4:151062800-151072000	Weak transcription	Aorta	Aorta
9	chr4:151063000-151070800	Weak transcription	HSMMtube	muscle
10	chr4:151063200-151070600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:151063400-151070600	Weak transcription	Fetal Heart	heart
12	chr4:151063600-151070200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:151064600-151080200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:151066400-151071800	Weak transcription	Fetal Stomach	stomach
15	chr4:151067400-151069600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr4:151067400-151070000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr4:151067400-151071400	Weak transcription	NHLF	lung
18	chr4:151067400-151074200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:151067600-151070400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:151067800-151070400	Weak transcription	Osteobl	bone
21	chr4:151067800-151070600	Weak transcription	A549	lung
22	chr4:151067800-151071800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr4:151067800-151074200	Weak transcription	HSMM	muscle
24	chr4:151068000-151070400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr4:151068000-151070600	Weak transcription	Brain Germinal Matrix	brain
26	chr4:151068000-151074000	Weak transcription	Brain Substantia Nigra	brain
27	chr4:151068200-151070400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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