Variant report

Variant	rs62338172
Chromosome Location	chr4:151038270-151038271
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:151033571..151036431-chr4:151037555..151040280,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs12500357	1.00[AFR][1000 genomes]
rs12502340	1.00[AFR][1000 genomes]
rs12506111	1.00[AFR][1000 genomes]
rs12507820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12509998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4401436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4519777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56039024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62338169	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62338170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62339872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62339873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62339881	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62339882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62339883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62339884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62339885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62339886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62339887	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62339888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62339889	0.90[EUR][1000 genomes]
rs62339890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62339893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62339908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62339914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62339915	0.95[EUR][1000 genomes]
rs62341682	0.84[AMR][1000 genomes]
rs62341683	0.84[AMR][1000 genomes]
rs62341685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62341687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62341688	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72730305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72730312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72730320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72730321	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72730325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7655129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7658824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7675626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[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	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
4	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
5	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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151035600-151040400	Weak transcription	HSMM	muscle
2	chr4:151036200-151042600	Weak transcription	Brain Substantia Nigra	brain
3	chr4:151036400-151042400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:151036600-151039200	Enhancers	Fetal Heart	heart
5	chr4:151036600-151040400	Enhancers	A549	lung
6	chr4:151036800-151039600	Enhancers	Osteobl	bone
7	chr4:151036800-151040000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:151037000-151039400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:151037000-151039400	Enhancers	Left Ventricle	heart
10	chr4:151037200-151038600	Enhancers	Brain Angular Gyrus	brain
11	chr4:151037200-151038800	Enhancers	Lung	lung
12	chr4:151037200-151039000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:151037200-151039000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:151037200-151039400	Enhancers	HSMMtube	muscle
15	chr4:151037200-151040600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:151037400-151038600	Enhancers	Right Atrium	heart
17	chr4:151037400-151038800	Weak transcription	Primary B cells from peripheral blood	blood
18	chr4:151037400-151038800	Weak transcription	NH-A	brain
19	chr4:151037400-151039000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
20	chr4:151037400-151039000	Enhancers	Fetal Muscle Leg	muscle
21	chr4:151037400-151039000	Enhancers	Right Ventricle	heart
22	chr4:151037400-151039400	Enhancers	Brain Anterior Caudate	brain
23	chr4:151037400-151040600	Weak transcription	NHEK	skin
24	chr4:151037400-151048400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:151037600-151038600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr4:151037600-151038800	Enhancers	Fetal Brain Female	brain
27	chr4:151037600-151039000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr4:151037600-151039400	Enhancers	Aorta	Aorta
29	chr4:151037600-151039600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr4:151037800-151038400	Enhancers	Colon Smooth Muscle	Colon
31	chr4:151037800-151038400	Enhancers	Stomach Smooth Muscle	stomach
32	chr4:151037800-151039000	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr4:151037800-151039000	Enhancers	Brain Cingulate Gyrus	brain
34	chr4:151038000-151038800	Enhancers	Ovary	ovary
35	chr4:151038000-151038800	Weak transcription	NHLF	lung
36	chr4:151038000-151039000	Enhancers	Rectal Smooth Muscle	rectum
37	chr4:151038200-151038400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr4:151038200-151038400	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr4:151038200-151038600	Enhancers	Brain Germinal Matrix	brain
40	chr4:151038200-151038600	Enhancers	Fetal Muscle Trunk	muscle
41	chr4:151038200-151038800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr4:151038200-151038800	Enhancers	Fetal Brain Male	brain
43	chr4:151038200-151040400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr4:151038200-151051600	Weak transcription	Brain Hippocampus Middle	brain

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