Variant report

Variant	rs12502340
Chromosome Location	chr4:151052714-151052715
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12500357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12506111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12507820	1.00[AFR][1000 genomes]
rs12509998	1.00[AFR][1000 genomes]
rs4401436	1.00[AFR][1000 genomes]
rs4519777	1.00[AFR][1000 genomes]
rs56039024	1.00[AFR][1000 genomes]
rs62338059	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62338169	1.00[AFR][1000 genomes]
rs62338170	1.00[AFR][1000 genomes]
rs62338172	1.00[AFR][1000 genomes]
rs62339872	1.00[AFR][1000 genomes]
rs62339873	1.00[AFR][1000 genomes]
rs62339881	1.00[AFR][1000 genomes]
rs62339882	1.00[AFR][1000 genomes]
rs62339883	1.00[AFR][1000 genomes]
rs62339884	1.00[AFR][1000 genomes]
rs62339885	1.00[AFR][1000 genomes]
rs62339886	1.00[AFR][1000 genomes]
rs62339887	1.00[AFR][1000 genomes]
rs62339888	1.00[AFR][1000 genomes]
rs62339890	1.00[AFR][1000 genomes]
rs62339893	1.00[AFR][1000 genomes]
rs62339908	1.00[AFR][1000 genomes]
rs62339914	1.00[AFR][1000 genomes]
rs62341685	1.00[AFR][1000 genomes]
rs62341687	1.00[AFR][1000 genomes]
rs72730305	1.00[AFR][1000 genomes]
rs72730312	1.00[AFR][1000 genomes]
rs72730320	1.00[AFR][1000 genomes]
rs72730321	1.00[AFR][1000 genomes]
rs72730325	1.00[AFR][1000 genomes]
rs7655129	1.00[AFR][1000 genomes]
rs7658824	1.00[AFR][1000 genomes]
rs7675626	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	esv3367011	chr4:151049031-151053489	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
6	esv3467428	chr4:151049063-151053482	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
7	esv3467429	chr4:151049063-151053482	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151038800-151070000	Weak transcription	Ovary	ovary
2	chr4:151039000-151052800	Weak transcription	Right Ventricle	heart
3	chr4:151044200-151052800	Weak transcription	Brain Germinal Matrix	brain
4	chr4:151045200-151099000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:151045400-151052800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr4:151047400-151058200	Weak transcription	Left Ventricle	heart
7	chr4:151048400-151057000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:151049200-151052800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr4:151049200-151057800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:151049200-151074000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr4:151050200-151056800	Weak transcription	HSMM	muscle
12	chr4:151050400-151056000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:151050600-151054000	Weak transcription	Gastric	stomach
14	chr4:151051000-151053600	Enhancers	A549	lung
15	chr4:151051200-151053400	Enhancers	Brain Anterior Caudate	brain
16	chr4:151051400-151053200	Enhancers	Osteobl	bone
17	chr4:151051400-151053400	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr4:151051400-151053400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:151051400-151053400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr4:151051400-151053800	Enhancers	NHDF-Ad	bronchial
21	chr4:151051600-151053400	Enhancers	NHLF	lung
22	chr4:151051600-151053600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:151051800-151053200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr4:151051800-151053400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr4:151051800-151062600	Weak transcription	Fetal Heart	heart
26	chr4:151052000-151052800	Weak transcription	Lung	lung
27	chr4:151052000-151053400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr4:151052000-151056600	Weak transcription	Brain Substantia Nigra	brain
29	chr4:151052200-151053400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr4:151052400-151053400	Enhancers	NH-A	brain
31	chr4:151052400-151053800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr4:151052600-151052800	Enhancers	Colon Smooth Muscle	Colon
33	chr4:151052600-151053800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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